Tumor neuroectodérmico maligno del tracto gastrointestinal: a propósito de un caso / Malignant neuroectodermal tumor of the gastrointestinal tract: case report

El tumor neuroectodérmico maligno del tracto gastrointestinal es una neoplasia rara con pocos casos reportados en la literatura, especialmente en América Latina. Descrito por primera vez en 2003, se trata de una entidad sin tratamiento estandarizado y de pobre pronóstico. Se presenta el caso de una paciente de 22 años de edad que acude a la consulta por dolor abdominal, anemia y masa abdominal palpable. Luego de estudios pertinentes se decide la conducta resectiva y el posterior tratamiento oncológico. (AU)

Malignant gastrointestinal neuroectodermal tumor (GNET), formerly known as clear cell sarcoma of the gastrointestinal tract, is an extremely rare tumor of mesenchymal origin, which presents great microscopic and molecular similarity to clear cell sarcoma found in other parts of the body, such as tendons and aponeurosis. It is characterized by its rapid evolution, high recurrence rate and frequent diagnosis as metastatic disease.1,2 (AU)

MiR-15b-5p Promotes Growth and Metastasis of Renal Clear Cell Carcinoma / MiR-15b-5p Promueve el Crecimiento y la Metástasis del Carcinoma Renal de Células Claras

SUMMARY: We investigated the expression and clinical significance of miR-15b-5p in clear cell renal cell carcinoma (RCC) through bioinformatics analysis and experimental verification. The differentially expressed miRNAs were screened in the GEO database. Venn diagram showed that there were 5 up-regulated miRNAs (has-miR-210, has-miR-142-3p, has-miR-142-5p, has-miR-15b-5p, and has-miR-193a-3p) and only 1 down-regulated miRNA (has-miR-532-3p) that were commonly expressed between GSE189331 and GSE16441 datasets. This was further confirmed in TCGA. Further analysis showed that the has-miR-193a-3p, has-miR-142-3p, has- miR-142-5p, and has-miR-15b-5p were closely related to tumor invasion, distant metastasis and survival probability. The expression of miR-15b-5p in ccRCC tissues was significantly higher than that in adjacent normal kidney tissues (P0.05). Following inhibition of miR-15b-5p expression, RCC cells had attenuated proliferation, increased apoptosis, and attenuated migration and invasion. has-miR-15b-5p-WEE1, has-miR-15b-5p-EIF4E, has-miR-15b-5p-PPP2R1B may be three potential regulatory pathways in ccRCC. miR-15b-5p is highly expressed in cancer tissues of ccRCC patients. It may promote proliferation, inhibit apoptosis and enhance cell migration and invasion of RCC cells. The has-miR-15b-5p-WEE1, has-miR-15b-5p-EIF4E, and has-miR-15b-5p-PPP2R1B may be three potential regulatory pathways in ccRCC.

Investigamos la expresión y la importancia clínica de miR-15b-5p en el carcinoma de células renales (CCR) de células claras mediante análisis bioinformático y verificación experimental. Los miARN expresados diferencialmente se examinaron en la base de datos GEO. El diagrama de Venn mostró que había 5 miARN regulados positivamente (has-miR-210, has-miR-142-3p, has-miR-142-5p, has-miR-15b-5p y has-miR-193a-3p). ) y solo 1 miARN regulado negativamente (has-miR-532-3p) que se expresaron comúnmente entre los conjuntos de datos GSE189331 y GSE16441. Esto fue confirmado aún más en TCGA. Un análisis más detallado mostró que has-miR-193a-3p, has-miR-142-3p, has- miR-142-5p y has-miR-15b-5p estaban estrechamente relacionados con la invasión tumoral, la metástasis a distancia y la probabilidad de supervivencia. La expresión de miR-15b-5p en tejidos ccRCC fue significativamente mayor que la de los tejidos renales normales adyacentes (P 0,05). Tras la inhibición de la expresión de miR-15b-5p, las células RCC tuvieron una proliferación atenuada, un aumento de la apoptosis y una migración e invasión atenuadas. has-miR-15b-5p-WEE1, has- miR-15b-5p-EIF4E, has-miR-15b-5p-PPP2R1B pueden ser tres posibles vías reguladoras en ccRCC. miR-15b-5p se expresa altamente en tejidos cancerosos de pacientes con ccRCC. Puede promover la proliferación, inhibir la apoptosis y mejorar la migración celular y la invasión de células RCC. has-miR-15b-5p-WEE1, has- miR-15b-5p-EIF4E y has-miR-15b-5p-PPP2R1B pueden ser tres posibles vías reguladoras en ccRCC.

Metástasis de cáncer de células claras renal en cuerdas vocales. Reporte de un caso / Metastasis of renal clear cell carcinoma in vocal cords. A Case report

Introducción: Las metástasis a distancia de tumores primarios a cuerdas vocales son poco frecuentes. Las metástasis a laringe con mayor frecuencia corresponden a melanomas y carcinomas, afectando principalmente a la región supraglótica. Las metástasis a cabeza y cuello de los carcinomas de células renales (CCR) tienen una incidencia de 14-16%. Se presenta el caso de un paciente con metástasis de carcinoma de células claras renal a cuerdas vocales, cuya importancia recae en que es un caso poco frecuente y no existen reportes similares en el país. Paciente masculino, 57 años, con disfonía de 3 meses de evolución. Nasofibroscopía evidencia lesión polipoídea en cuerda vocal y ventrículo izquierdo. Se realiza microcirugía laríngea, enviando muestra a biopsia diferida, resultando lesión metastásica de CCR células claras. Evaluado por nefrología, se pesquisa tumor renal izquierdo sugerente de CCR. Las metástasis de neoplasias remotas a laringe son infrecuentes. Se considera al CCR el tercero en frecuencia respecto a neoplasias infraclaviculares. Éstas se pueden presentar hasta 10 años después del tratamiento del primario. Se recomienda seguimiento a largo plazo y énfasis a nuevos síntomas en región de cabeza y cuello, teniendo en consideración antecedente de CCR en pacientes con disfonía y lesiones polipoídeas en cuerdas vocales.

Introduction: The metastasis of distant site primary tumors to the vocal cords is infrequent. The most frequent source of metastasis to the larynx is melanomas and carcinomas, mainly affecting the supraglottic region. The metastasis to the head and neck of renal cell carcinomas (RCC) has an incidence of 14-16%. To present a case of metastasis of clear renal cell carcinoma to the vocal cords, since it is very infrequent, and there are no similar reports in the country. A male patient, 57 years old, presenting dysphonia for a duration of 3 months. Nasofibroscopy showed a polypoid lesion in the left vocal cord and ventricle. Larynx microsurgery was performed, and a sample was sent for biopsy, which reported a metastatic lesion of RCC clear cells. When assessed by nephrology, a left renal tumor is found, suggesting RCC. The metastasis of distant site neoplasias are infrequent. RCC is considered the third in frequency concerning to infraclavicular neoplasias. These can present up to 10 years after the treatment of the primary. Long term follow-up is recommended, and an emphasis on new symptoms in the head and neck region, considering the history of RCC in patients with dysphonia and polypoid lesions in vocal cords.

PEComa pulmonar / PEComa of the lung

Resumen Los tumores de células claras "de azúcar" (CCTL) son lesiones benignas muy infrecuentes. Forman parte de un grupo de neoplasias mesenquimales denominadas PEComas que se originan de las células epiteloides perivasculares. Por su rico estroma vascular, suelen tener avidez por los distintos tipos de contrastes utilizados en los estudios de diagnóstico por imágenes, simulando lesiones de estirpe maligna. Presentamos el caso de un paciente de 66 años con hallazgo de un nódulo pulmonar durante la estadificación oncológica por adenocarcinoma de próstata al que se le realizó una segmentectomía pulmonar anatómica. El resultado definitivo de anatomía patológica fue tumor de células epiteloides perivasculares (PEComa pulmonar o tumor de células claras "de azúcar").

Abstract Clear cell ''sugar'' tumor of the lung is a rare benign tumor arising from perivascular epithelioid cells (PECs). They belong to a group of mesenchymal neoplasms called PEComas. Although widely presumed as benign, due to their rich vascular stroma they are usually avid for the different types of contrast agents used in imaging studies, mimicking a malignant lesion. We report the case of a 66-year-old man in whom a solitary pul monary nodule was discovered during oncological staging for an adenocarcinoma of the prostate who underwent an anatomical pulmonary segmentectomy. The final pathology result was a perivascular epithelioid cell tumor (pulmonary PEComa or clear "sugar" cell tumor).

Hidradenoma nodular maligno / Malignant Nodular Hidradenoma

Introducción: El hidradenoma nodular maligno es un tumor maligno de glándula sudorípara ecrinas, poco común, considerada una lesión de diferenciación anexial ecrinas, que generalmente surge de nuevo, aunque se han descrito unos pocos casos surgidos sobre un hidradenoma nodular. Es decir, representa la contrapartida maligna del hidradenoma nodular. Objetivo: Dar a conocer la presentación de un caso, dada la inusual aparición de esta entidad, con revisión de los criterios para su diagnóstico. Caso clínico: Se informa el caso de un hombre de 74 años de edad con una neo formación en la región parietal derecha del cuero cabelludo. Conclusiones: Debemos pensar en un hidradenoma nodular maligno ante un tumor solitario, firme o fluctuante, infrecuente en el cuero cabelludo, con curso agresivo, recurrencias y metástasis ganglionares y confirmar su diagnóstico con el estudio inmunohistoquímico(AU)

Introduction: Malignant nodular hidradenoma is a rare malignant eccrine sweat gland tumor considered a lesion of eccrine adnexal differentiation, which usually arises again, although a few arising cases on nodular hidradenoma have been described. In other words, it represents the malignant counterpart of nodular hidradenoma. Objective: To report a case, given the unusual occurrence of this entity, with a review of the criteria for its diagnosis. Case report: We report the case of a 74-year-old man with a neoformation in the right parietal region of the scalp. Conclusions: We should consider a malignant nodular hidradenoma when faced with a solitary, firm or fluctuant tumor, rare in the scalp, with aggressive evolution, recurrences and lymph node metastasis, and confirm its diagnosis with immunohistochemical study(AU)

Análise do perfil de mRNAs diferencialmente traduzidos no carcinoma renal de células claras / Analysis of differentially translated mRNA profile in clear cell renal cell carcinoma

O carcinoma renal de células claras (CRCC) é o tipo de neoplasia renal com maior incidência, cerca de 80%. A maioria dos casos são curados após cirurgia, porém, cerca de um terço dos pacientes apresentam recidiva da doença com metástase à distância. O tratamento para este tumor evoluiu muito nas últimas duas décadas, entretanto, pacientes metastáticos ainda apresentam baixas taxas de resposta aos tratamentos devido a resistência adquirida pelo tumor para escapar da terapia alvo. Identificar os mecanismos moleculares associados à carcinogênese do CRCC é essencial para entender as características tumorais que estão associadas a progressão da doença e resistência aos tratamentos. Entre as alterações mais frequentes no CRCC está a perda do gene VHL, um supressor tumoral e principal regulador da resposta à hipóxia. VHL tem dois principais alvos, o fator induzido por hipóxia 1α (HIF-1α) e o fator induzido por hipóxia α (HIF-2α). Em normóxia, VHL é responsável pela degradação das subunidades de HIF. Em hipóxia, VHL deixa de reconhecer e marcar HIF-1α e HIF-2α para degradação e, uma vez estabilizadas, ativam vias de sinalização associadas a sobrevivência celular. As informações sobre alterações encontradas em tumores normalmente são estudadas a partir do sequenciamento da população total de mRNAs, oferecendo uma visão do transcriptoma. Nossa abordagem metodológica coleta e analisa apenas a população de mRNAs ativamente traduzidos, oferecendo uma visão mais próxima da expressão proteica final. A via de mTOR regula o início da tradução de mRNAs e está frequentemente mutada em CRCC. A hipóxia afeta a expressão de genes tanto via transcrição quanto via tradução. Alterações no controle traducional em CRCC afetam a expressão gênica contribuindo para a formação do tumor e progressão da doença. Assim, nosso objetivo principal foi identificar o perfil de genes diferencialmente traduzidos dependendo do status de VHL e da via de mTOR. Para isso utilizamos um modelo celular de CRCC deficiente em VHL e sua contraparte onde VHL foi restituído. Realizamos o perfil polissomal em modelos celulares de CRCC para separar e coletar a população de mRNAs ativamente traduzidos que foram posteriormente sequenciados. Nossos dados mostraram perfis distintos de tradução entre as células VHL- deficientes e VHL-proficientes. Além disso, após a inibição de mTOR, ambas as células também apresentaram respostas diferentes ao tratamento. Além disso, observamos alterações na resposta imune e aumento do ciclo celular na ausência de VHL, que podem contribuir para a progressão tumoral. Em modelo com tecido tumoral congelado, nossos resultados parciais indicam que alterações na tradução global podem interferir principalmente no estadiamento clínico de pacientes com CRCC. Por fim, também analisamos a expressão de HIF-2α, um dos alvos de VHL, em tecidos de pacientes com CRCC. Nossos resultados mostram que HIF-2α pode ser utilizado na estratificação de pacientes com maior risco de recidiva, dependendo do estadiamento clínico.

Clear cell renal cell carcinoma (ccRCC) is the most common type of renal neoplasia with 80% of incidence. Most cases are cured after surgery, however, one third of all patients will have disease recurrence with distant metastasis. ccRCC treatment had evolved in the past two decades, however, metastatic patients still have low response rates due to tumor resistance. The identification of molecular mechanisms associated with ccRCC carcinogenesis is essential to understand the characteristics associated with disease progression and treatment resistance. The most frequent alteration in ccRCC is the loss of VHL gene, a tumor suppressor and the main regulator in response to hypoxia. VHL has two main target, hypoxia-induced factor 1 α (HIF-1 α) and hypoxia-induced factor α (HIF-2 α). In normoxic conditions, VHL can lead HIF subunits to degradation. In hypoxia, HIF-1α and HIF-2α stabilize and activate cell survival associated signaling pathways. Studies about tumor alterations usually provides a view of the transcriptome. Our approach is based on the actively translated mRNAs collection and analysis, which provides a closer view from protein expression. mTOR pathway regulates translation initiation and is frequently mutated in ccRCC. Hypoxia affects gene expression in both transcriptional and translational regulation. Alteration in translational control in ccRCC affect gene expression which contributes to tumor progression. Our main objective was to identify the differentially translated gene profile depending on VHL status and mTOR pathway activation. To assess this, we used a VHL-deficient and a VHL-proficient ccRCC cell line. We used the polysome profiling technique to separate and collect the population of mRNAs actively translated that were subsequently sequenced. Our data showed distinct translation profiles between VHL-deficient and VHL-proficient cells. In addition, after mTOR inhibition, both cells showed different responses to treatment. We observed changes in immune response and increased cell cycle pathways in VHL deficient cells, which may contribute to tumor progression. In tumor tissue, our polysome profiling analysis indicate that changes in global translation may interfere in clinical staging of ccRCC patients. Finally, we analyzed the expression of HIF-2α, a VHL target, in ccRCC patient's tissues. Our results showed that HIF-2α can distinct patients at higher recurrence risk depending on clinical staging.

Clear cell chondrosarcoma of the proximal tibia - case report

ABSTRACT Introduction: Clear cell chondrosarcomas are a rare type of low-grade chondrosarcoma. Unlike conventional chondrosarcomas, these tumors occur mainly in the epiphyses of long bones, especially in the proximal femur and proximal humerus. Given their lytic characteristics with a cystic appearance, they can be mistaken for bone cysts and diagnosed late. Diagnosis must be made based on histopa-thology and immunohistochemistry. Likewise, negativity for cytokeratins and anti-endomysial antibodies are tools to rule out the differential diagnosis of metastasis. The treatment of this low-grade chondral lesion is surgical, either with intralesional management or complete resection. Case presentation: This is the case of a 46-year-old woman who consulted the orthopedic oncology service of a quaternary care institution due to medial knee pain at the level of the proximal tibia for 8 months. Diagnostic imaging studies showed a cystic lesion in the lateral tibial plateau; a biopsy of the lesion was performed, and clear cell chondrosarcoma was diagnosed based on histopathology and immunohistochemistry. Surgical management included tumor-free resection margins and reconstruction of the bone defect with a structural allograft of the proximal tibia. The patient progressed satisfactorily. Conclusions: This was the case of a patient with a subtype of low-grade chondrosarcoma that is rare in incidence and location, who was diagnosed based on immunohistochemistry and treated surgically to achieve a successful limb salvage.

RESUMEN Introducción. El condrosarcoma de células claras es un subtipo de tumor poco frecuente del grupo de los condrosarcomas de bajo grado. A diferencia de los condrosarcomas convencionales, estos tumores se presentan principalmente en epífisis de huesos largos. Dadas sus características líticas de aspecto quístico, pueden confundirse con quistes óseos, por lo que su diagnóstico debe hacerse por histopatología e inmunohistoquímica mediante biopsia. Igualmente, la negatividad para citoqueratinas y anticuerpos antiendomisio es una herramienta para descartar el diagnóstico diferencial de metástasis. Su tratamiento es quirúrgico, bien sea con manejo intralesional o resección completa con márgenes libres. Presentación del caso. Mujer de 46 años quien consultó al servicio de ortopedia oncológica de una institución de IV nivel de atención por un cuadro clínico de 8 meses de evolución consistente en dolor en la cara medial de la rodilla izquierda a nivel de la tibia proximaluna. Se practicaron imágenes diagnósticas que mostraron una lesión quística en el platillo tibial lateral; se ordenó biopsia de la lesión, y mediante histopatología e inmunohistoquímica se diagnosticó condrosarcoma de células claras. Se realizó un manejo quirúrgico con resección de la lesión con márgenes libres y una reconstrucción del defecto óseo con un aloinjerto estructural de tibia proximal, con lo cual se obtuvo una evolución satisfactoria. Conclusiones. Se presenta el caso de una paciente con un subtipo de condrosarcoma de bajo grado infrecuente en su presentación y localización, quien fue diagnosticada mediante inmunohistoquímica y tratada quirúrgicamente para lograr un salvamento exitoso de su extremidad.

Lesión granulomatosa en encía insertada-metástasis de carcinoma renal de células claras. Presentación de caso / Granulomatous Lesion in Inserted Gum-Metastasis of Renal Clear Cell Carcinoma. Case Presentation

Resumen: A nivel mundial el carcinoma renal constituye el 3% de todas las formas de cáncer en el cuerpo humano. Su comportamiento biológico es variable dependiendo de la biología de cada individuo; tiende a realizar metástasis a sitios contiguos como glándulas suprarrenales, hígado, pulmón, hueso, ganglios linfáticos sin embargo la presentación a distancia en cavidad bucal es poco frecuente más aún en encía insertada. Las lesiones granulomatosas del periodonto incluyen granulomas piógenos, granulomas de células gigantes entre otros. El objetivo principal de este caso clínico es describir las características clínicas e histopatológicas de las metástasis a cavidad bucal como lesiones granulomatosas. Se presenta el caso de una paciente femenina de 60 años de edad con antecedente de carcinoma renal de células papilares en riñón derecho tratado mediante nefrectomía en el año 2017, en el año 2019 presenta metástasis a pulmón izquierdo y a cavidad bucal. En la actualidad se encuentra bajo protocolo de tratamiento para metástasis de células claras renales.

Abstract: Worldwide, renal carcinoma constitutes 3% of all forms of cancer in the human body. Its biological behavior is variable depending on the biology of each individual; it tends to metastasize to contiguous sites such as adrenal glands, liver, lung, bone, lymph nodes, however, remote presentation in the oral cavity is less frequent, even in inserted gums. Granulomatous lesions of the periodontium include pyogenic granulomas, giant cell granulomas among others. The main objective of this clinical case is to describe the clinical and histopathological characteristics of oral cavity metastases as granulomatous lesions. The case of a 60-year-old female patient with a history of renal cell papillary carcinoma in the right kidney treated by nephrectomy in 2017 is presented, in 2019 she presented metastases to the left lung and oral cavity. It is currently under treatment protocol for renal clear cell metastases.

Sarcoma de Células Claras en pierna de mujer de 28 años / Clear cell sarcoma on 28 years old woman leg

Los tumores de partes blandas son tumores que se presentan en adultos, aproximadamente a los 60 años. De estos tumores los sarcomas son poco frecuentes y tienen preferencia en las extremidades y muchas veces invaden estructuras músculo aponeuróticas cercanas, y poca invasión vascular o nerviosa lo que las hace de fácil acceso con poca morbilidad para su biopsia. El diagnóstico de los tumores de partes blandas se basa en el estudio histológico de anatomía patológica y, a veces se debe asociar a estudios de citogenética para poder tener un diagnóstico específico. El tratamiento principal es quirúrgico y puede llegar estar asociado a terapia adyuvante.

Soft tissue tumors are tumors that occur in adult's age, at about 60 age. Of these tumors, sarcomas are rare and have preference in the extremities, and often invade nearby muscle-fascia structures, and little vascular or nerve invasion, making them easily accessible with little morbidity for biopsy. The diagnosis of soft tissue tumors is based on the histological study of pathological anatomy and, sometimes, it must be associated with cytogenetic studies in order to have specific diagnosis. The main treatment is surgical and may end up being associated with adjuvant therapy.

Bazo metastásico de un adenocarcinoma de endometrio. Presentación de un caso / Splenic metastasis from endometrial adenocarcinoma. A case presentation

Introducción: La metástasis esplénica de un carcinoma endometrial es un acontecimiento clínico raro, con solo 13 casos documentados en la literatura, revisada. La evolución de esta metástasis, en una paciente atendida, en nuestra Institución, fue el motivo para publicar este trabajo. Hay otras enfermedades oncológicas que en su evolución de progresión o recaída cursan con este tipo de cuadro clínico donde el tratamiento quirúrgico es fundamental y así complementar con tratamiento de quimioterapia. Se hizo una revisión en publicaciones cubanas no se encontró reporte del tema. Objetivo: Presentar un caso con un adenocarcinoma de endometrio tipo endometroide que metastiza al bazo con histología de células claras. Presentación: Paciente de 45 años, con diagnóstico de adenocarcinoma de endometrio con estadiamiento quirúrgico pT3A Nx Mo etapa IIIA Grado 2; este estadiamiento es el anterior a 2009, llevó su tratamiento quirúrgico y radioterapia complementaria, controlada por 21 meses. En consulta de seguimiento se diagnostica metástasis al bazo, por lo que se realiza esplenectomía y es tratada con quimioterapia; fue atendida por el equipo multidisciplinario de ginecología oncológica; las investigaciones realizadas estuvieron basadas en inmuhistoquimica, imageneología y tratamiento de soporte cuando lo necesitó. Conclusiones: La metástasis esplénica por un cáncer de endometrio es rara, es el primero reportado en Cuba, los estudios inmuhistoquímicos y de imágenes son fundamentales(AU)

Introduction: Splenic metastasis from endometrial carcinoma is a rare clinical event with only 13 documented cases in the literature reviewed. The evolution of a patient with this metastasis attended in our institution was the reason that motivated us to publish this work. There are other oncological diseases that are accompanied by this clinical picture during their evolution of progression where surgical treatment complemented with chemotherapy treatment is essential. A literature review was carried out in Cuban publications, but no reports on the topic were found. Objective: The aim of this work is to present an endometroid type case endometrium adenocarcinoma which metastasizes to the spleen with clear cell histology. Case presentation: Forty-five-year-old patient with diagnosis of endometrium adenocarcinoma with surgical stage pT3a Nx Mo stage IIIA Grade 2; this quantification was defined before 2009. The patient underwent surgical treatment which was complemented with radiotherapy and then followed for 21 months. In the follow-up consultation, spleen metastasis was diagnosed; so she underwent splenectomy and was treated with chemotherapy. She was treated by the multidisciplinary gynecologic oncology team; the investigations performed were based on immuhistochemistry, imaging, and supportive treatment whenever needed. Conclusions: Splenic metastasis from endometrial cancer is rare; it is the first case reported in Cuba. Immuhistochemical and imaging studies are essential(AU)

Adenocarcinoma de células claras de colo uterino em paciente gestante / Adenocarcinoma of clear uterine cervical cells in pregnant patient

O adenocarcinoma de células claras (CCA) primário de colo uterino em pacientes jovens é uma doença rara, de etiologia desconhecida e que no passado estava associada ao uso do dietilestilbestrol durante a gestação, quando sua comercialização era permitida. A queixa mais frequente do CCA é o sangramento vaginal irregular. Relatamos o caso de CCA de endocérvice em paciente jovem que engravidou naturalmente após o diagnóstico da neoplasia.(AU)

Primary cervical clear cell adenocarcinoma (CCA) in young patients is a rare disease of unknown etiology in the past associated with the use of diethylstilbestrol during pregnancy when its use was permitted. The most frequent complaint is irregular vaginal bleeding. We report the case of endocervous clear cell adenocarcinoma in a young patient who became naturally pregnant, even after the diagnosis of the neoplasia.(AU)

Síndrome de Stauffer como manifestación de carcinoma renal de células claras / Stauffer's syndrome as manifestation of clear cell renal carcinoma

Resumen: La incidencia de carcinoma renal de células claras representa cerca de 2% de todas las neoplasias malignas. La tríada clásica de hematuria, dolor abdominal y masa palpable se estima en 10% de los casos. Stauffer describió en 1961 el primer caso llamado síndrome de disfunción hepato-nefrogénica no metastásica, este padecimiento puede encontrarse en 3 a 20% de los casos. La afectación de las enzimas hepáticas puede estar en relación con la infiltración metastásica del hígado o, bien, por disfunción no metastásica. Es una manifestación poco frecuente en cáncer renal. Ante el hallazgo de enzimas hepáticas y fosfatasa alcalina elevadas y al descartar alteración hepática anatómica y funcional, debe sospecharse el síndrome de Stauffer, lo que puede hacer la diferencia entre que éste pase inadvertido o establecer el diagnóstico de manera oportuna. Se comunica una manifestación poco frecuente de síndrome paraneoplásico en cáncer renal de células claras.

Abstract: The incidence of clear cell renal carcinoma corresponds to about 2% of all malignant neoplasms. The classic triad of hematuria, abdominal pain and palpable mass is estimated in 10% of cases. Stauffer described in 1961 the first case called nonmetastatic hepatophrenic dysfunction syndrome, this condition can be found in 3 to 20% of cases. The involvement of liver enzymes may be related to metastatic liver infiltration or also due to non-metastatic dysfunction. It is a rare manifestation in renal cancer. Before the finding of elevated liver enzymes and alkaline phosphatase, ruling out both anatomic and functional hepatic impairment, Stauffer syndrome should be suspected, being able to make the difference between going unnoticed or being a timely finding. This paper reports a little frequent manifestation of paraneoplastic syndrome of clear cell renal carcinoma.

Hidradenoma nodular maligno / Malignant nodular hydradenoma

RESUMEN El Hidradenoma nodular maligno o Hidradenocarcinoma es un tumor poco frecuente, derivado de las glándulas sudoríparas ecrinas. Puede surgir de novo o por la transformación de su contraparte benigna. Estos tumores son de crecimiento lento, comportamiento agresivo, con alta incidencia de recurrencias y posibilidad de metástasis. Su prevalencia es en la población adulta, y su pronóstico, incierto. El tratamiento de elección de estos tumores es la escisión quirúrgica con márgenes amplios.

ABSTRACT The Malignant nodular Hydradenoma or Hydradenocarcinoma is a rare tumor, derived from the eccrine sweat glands, may arise de novo or by the transformation of its benign counterpart. These tumors are slow growing, aggressive behavior, with a high incidence of recurrences and the possibility of metastasis; its prevalence being in the adult population, and its prognosis is uncertain. The treatment of choice for these tumors is surgical excision with wide margins.

Sarcoma de células claras (melanoma maligno de partes moles): relato de caso / Clear cell sarcoma (malignant melanoma of soft parts): case report

O sarcoma de células claras (SCC) é um tumor maligno descrito em 1965. Essa neoplasia representa menos de 1% dos sarcomas, sendo que esses já representam 1% dos cânceres. O SCC geralmente acomete adultos jovens e apresenta-se como uma massa profunda, localizada em extremidades, próxima a tendões e aponeuroses. O prognóstico é geralmente reservado, com sobrevida em 5 anos de 47%. Nesse artigo é relatado o caso de uma paciente de 38 anos com uma neoplasia metastática sem sítio primário conhecido, que se apresentou inicialmente como uma tumoração em região inguinal. A microscopia da lesão revelou neoplasia composta por células epitelioides de grande porte, citoplasma eosinófilo, comumente contendo pigmento, e núcleo pleomórfico. A imuno-histoquímica (IHQ) foi negativa para pancitoqueratina e desmina e positiva para melanossoma, melan-A, vimentina, S-100 e positiva em 40% das células para Ki-67. O tratamento paliativo foi realizado com quimioterapia e radioterapia. A paciente evoluiu à óbito seis meses após o diagnóstico. O SCC é uma neoplasia maligna rara de difícil diagnóstico diferencial. O exame histológico e mesmo a IHQ podem não conseguir diferenciá-lo do melanoma metastático. A pesquisa da translocação t(12;22)(q13;q13) pode ajudar a diferenciá-los, porém não é feita rotineiramente. Assim, o diagnóstico foi firmado pelas características clínicas, em correlação com a patologia. Devido a sua raridade não há um tratamento clínico bem estabelecido. Considerando que a terapia para o melanoma metastático está em evolução e é cada vez mais efetiva, é importante que o diagnóstico diferencial preciso com o SCC seja feito.

Clear cell sarcoma (CCS) is a malignant tumor described in 1965. This neoplasm accounts for less than 1% of sarcomas, which already account for 1% of cancers. CCS usually affects young adults and presents as a deep mass, located at extremities, near tendons and aponeuroses. The prognosis is generally limited, with a 5-year survival of 47%. In this article, it is reported a case of a 38-year-old patient with metastatic neoplasia of unknown primary site, which initially presented as an inguinal tumor. Microscopy revealed neoplasia composed of large epithelioid cells, eosinophilic cytoplasm, commonly containing pigment, and pleomorphic nucleus. Immunohistochemistry (IHC) was negative for pan-cytokeratin and desmin and positive for melanosome, melan-A, vimentin, S-100 and positive in 40% of cells for Ki-67. Palliative treatment was performed with chemotherapy and radiotherapy. The patient died six months after the diagnosis. CCS is a rare malignant neoplasm of difficult differential diagnosis. Histological examination and even IHC may not be able to differentiate it from metastatic melanoma. The translocation t (12; 22) (q13; q13) may help to differentiate them but it is not routinely researched for. Therefore, the diagnosis was established by correlation of clinical and pathological characteristics. Due to its rarity, there is no well-established clinical treatment. Considering that therapy for metastatic melanoma is evolving and is increasingly effective, it is important that a precise differential diagnosis with SCC is done.

Carcinoma renal de células claras: a propósito de un caso y revisión de la literatura / Renal clear cell carcinoma: case report and review of the literature

El carcinoma de células renales (CCR) es la lesión sólida más frecuente en el riñón y representa aproximadamente el 90% de los tumores renales malignos. Hay un predominio 1,5:1 de varones sobre las mujeres y su incidencia máxima tiene lugar entre los 60 y 70 años de edad. Este tipo de cáncer representa el 2%-3% de todos los cánceres y su incidencia máxima ocurre en los países occidentales. Se reporta un caso poco frecuente de CCR en una paciente femenina de 35 años de edad con una hematuria total, sin dolor, de 2 días de duración. El TAC abdomino-pélvico reveló una lesión ocupante de espacio de 15 x 12 x 10 cm aproximadamente, de aspecto neoproliferativo, con características heterogéneas de hipo e hiperdensidad, de 40 uH, neovascularización y realce al contraste, que compromete cáliz medio e inferior de riñón izquierdo, extensivo hasta pelvis renal. Se practicó nefrectomía radical izquierda. El estudio histopatológico reporta un carcinoma de células claras bien diferenciado de bajo grado, con márgenes libres y ganglios linfáticos sin MT. Paciente quien evoluciona satisfactoriamente en planificación de terapia adyuvante. Por el hecho de ser una presentación en un adulto joven, lo ideal es que el urólogo este en la capacidad de realizar el diagnóstico a la brevedad posible(AU)

Renal cell cancer (RCC) is the most common solid lesion in the kidney and accounts for approximately 90% of malignant renal tumors. There is a 1.5:1 male predominance and the highest incidence occurs between 60 and 70 years of age. RCC represents 2%-3% of all cancers and its highest incidence occurs in western countries. We report a rare case of a female patient of 35 years of age who has had pain free hematuria for two days. A contrasted abdominal/pelvic CT revealed a lesion of approximately 15 x 12 x 10 cm with neoproliferative appearance and heterogeneous features of hypo and hyperdensity of 40 uH, with neovascularization and contrast enhancement, compromising the middle and lower calyx of the left kidney extensive to renal pelvis. A left radical nephrectomy was performed. Histopathological study revealed a well-differentiated low grade clear cell carcinoma, with free margins and lymph nodes without metastasis. The patient has a satisfactory evolution and is awaiting adjuvant treatment. Due to the fact that the patient is a young adult, the urologist should be able to make the diagnosis as soon as possible(AU)

Expressão de FOXP3 e resposta inflamatória em carcinomas de células renais de células claras / FOXP3 expression and inflammatory response in clear cell renal cell carcinomas

Introdução: Nas últimas décadas, progressos significativos foram feitos no manejo do carcinoma de células renais no cenário de doença avançada ou metastática. O uso de imunoterápicos estão aumentando tendo em vista que as células inatas e adaptativas do sistema imune desempenham um papel importante na regulação do crescimento do câncer. Objetivos: Os autores avaliaram as expressões imuno-histoquímicas de FOXP3, CD4 e CD8 e seus impactos prognósticos na sobrevida global e as compararam com fatores clínicos e patológicos. Metodologia: As expressões imuno-histoquímicas de FOXP3, CD4 e CD8 foram analisadas em 103 casos de carcinomas renais de células claras dispostos em tissue microarray. Para análise de seu impacto na sobrevida e associação com variáveis clínicas, dados epidemiológicos e clínicos foram coletados. Resultados: Em uma análise univariada, a razão de linfócitos CD4+/CD8+ apresentou impacto na sobrevida câncer específica (SCE) (p=0,045). Conclusão: A relação de linfócitos CD4+/CD8+ esteve associada a piores taxas de SCE. Nenhuma das variáveis clínicas e anatomopatológicas estudadas mostrou relação significativa com linfócitos positivos para FOXP3, CD4 e CD8 (AU)

Introduction: Significant progress has been made in the management of renal cell carcinoma during the last decades in the advanced or metastatic scenario. The use of immunotherapy is increasing as innate and adaptive cells of the immune system play an important role in regulating cancer growth. Objectives: The authors evaluated the immunohistochemical expressions of FOXP3, CD4 and CD8 and their prognostic impacts on overall survival and compared them with clinical and pathological factors. Methodology: Epidemiological and clinical data were collected. Immunohistochemical expressions were analyzed in 103 cases arranged in tissue microarray. Results: In a univariate analysis, the CD4+/CD8+ lymphocyte ratio impacted cancer-specific survival (ECS) (p = 0.045). Conclusion: The ratio of CD4+/CD8+ lymphocytes was associated with worse ECS rates. None of the clinical and anatomopathological variables studied showed a significant relationship with FOXP3, CD4 and CD8 positive lymphocytes (AU)

Metástasis inusuales en carcinoma de células renales / Unusual Metastases in Renal Cell Carcinoma

Introducción y Objetivos El carcinoma renal de células claras (CCR), es la neoplasia renal más frecuente. Hasta el 30% de los casos presentan enfermedad sistémica, siendo las más usuales: pulmón, ganglios, hígado y cerebro. El objetivo de este trabajo es informar casos poco frecuentes de metástasis por CCR y establecer posibles factores relacionados con las metástasis. Métodos y Materiales revisión retrospectiva de historias clínicas en el instituto nacional de cancerología de los pacientes con carcinoma de células renales metastásico entre los años 2013 a 2017. Se identificaron 6 casos con sitios de metástasis inusuales en pacientes del servicio de urología oncológica del instituto nacional de cancerología, destacando histopatología e inmunohistoquímica de los especímenes quirúrgicos tanto del primario como de la metástasis, reportando marcadores específicos y clasificaciones según corresponda. Resultados Caso 1 Metástasis a duodeno, Caso 2 metástasis a ovario, caso 3 metástasis a testículo, caso 4 metástasis a piel, caso 5 metástasis a glándula tiroides, caso 6 metástasis a mama y piel. Se evaluaron diferentes variables y se analizaron con base en la literatura. Conclusiones Consideramos que la edad, el tabaquismo, el grado histológico, la invasión de la vena renal, el tamaño tumoral y el estadio pueden ser factores predisponentes para ese comportamiento.

Introduction and Objectives Clear cell renal carcinoma (CRC) is the most frequent renal neoplasm. Up to 30% of cases present systemic disease, being the most common: lung, lymph, liver and brain. The objective of this work is to report rare cases of CRC metastasis and to establish possible factors related to metastasis. Methods and Materials Retrospective review of medical records in the national institute of cancerology of patients with metastatic renal cell carcinoma between the years 2013 to 2017. Six cases with sites of unusual metastases were identified in patients of the oncology urology service of the national institute of cancerology, highlighting histopathology and immunhistochemistry of the surgical specimens of both the primary and metastasis, reporting specific markers and classifications as appropriate. Results Case 1 Metastasis to duodenum, Case 2 metastasis to ovary, case 3 metastasis to testis, case 4 metastasis to skin, case 5 metastasis to thyroid gland, case 6 metastasis to breast and skin. Different variables were evaluated and analyzed based on the literature. Conclusions We consider that age, smoking, histological grade, invasion of the renal vein, tumor size and stage may be predisposing factors to this behavior.

Sarcoma de células claras del pie. Presentación de un caso / Clear cell sarcoma of the foot. Case presentation

RESUMEN El sarcoma de células claras fue descrito por primera vez por Franz M. Enzinger en 1965. Está íntimamente asociado a tendones y aponeurosis, excepcionalmente compromete la epidermis. Afecta fundamentalmente a pacientes jóvenes y se caracteriza por múltiples recurrencias locales y metástasis tardías. Se presenta un paciente de 22 años de edad, masculino que fue sometido a tratamiento quirúrgico radical (amputación transmetatarseana del 1er y 2do rayo). Los estudios anatomopatológicos confirmaron el diagnóstico de un sarcoma de células claras. El paciente se encuentra libre de la enfermedad después de 6 años de operado e incorporado a su vida social (AU).

ABSTRACT The clear cell sarcoma was firstly described by Franz M. Enzinger in 1965. It is intimately associated to tendons and aponeurosis, exceptionally compromising the epidermis. It mainly affects young patients and is characterized by multiple local recurrences and late metastases. We present a male patient, aged 22 years, who underwent a radical surgical treatment (transmetatarsal amputation of the 1st and 2nd rays). The anatomic-pathological studies confirmed the diagnosis of clear cell sarcoma. 6 years after surgery, the patients is free of the disease and reincorporated to his social life (AU).

Endometriosis y carcinoma de celulas claras. Reporte de caso / Endometriosis and clear cell carcinoma. Case report

RESUMEN La endometriosis corresponde a la presencia de glándulas endometriales o estroma en sitios distintos a la cavidad uterina. Afecta del 5 al 15% de las mujeres en edad reproductiva y se asocia a importante sintomatología. La teoría de la menstruación retrógrada propuesta por Sampson es la más aceptada para explicar su etiología. Varios estudios han asociado esta enfermedad a un riesgo aumentado de neoplasia, ésta entidad, denominada endometriosis asociada a malignidad, se localiza en sitios extra gonadales en un 20% de los casos, donde la pared abdominal no alcanza más de 30 casos reportados. Si bien no existe un tratamiento estándar, la mayoría de los autores han adaptado el protocolo de tratamiento para el cáncer de ovario asociado a endometriosis.

ABSTRACT Endometriosis corresponds to the presence of endometrial glands or stroma at sites other than the uterine cavity. It affects 5 to 15% of women of reproductive age and is associated with a significant symptomatology. The theory of retrograde menstruation proposed by Sampson is the most accepted to explain its etiology. Several studies have associated this disease with an increase in neoplasia, the entity, called endometriosis associated with malignancy, is located in extra gonadal sites in 20% of cases, where the abdominal wall does not reach more than 30 reported cases. Although there is no standard treatment, most authors have adapted the treatment for ovarian cancer associated with endometriosis.

Adenocarcinoma de Células Claras na era pós Dietilestilbestrol / Cervical clear Cell Adenocarcinoma in the era after Diethylstilbestrol

Carcinoma de células claras (CCC) em colo uterino é raro. A colpocitologia pode estar normal. Cirurgia radical é indicada, podendo associar-se a quimioterapia (QT) e radioterapia (RT) adjuvantes. Relatamos CCC de colo uterino e metástase recidivada em mulher jovem. Paciente possuía estadiamento IA1 e não havia tido contato com dietilestilbestrol. Foi submetida à histerectomia radical e tumor era moderadamente diferenciado. Em 3 anos, surgiram metástases pulmonares, todas ressecadas e conduzidas com QT adjuvante. Tamanho tumoral aumentado, grau histológico indiferenciado e presença de metástases são fatores prognósticos ruins, o que pode explicar a evolução desfavorável da paciente. Conquanto seja de patologia rara, é imprescindível que o CCC faça parte do diagnóstico diferencial de tumores de colo uterino, mesmo que colpocitologia normal

Cervical clear cell adenocarcinoma is rare. Colpocytology may be normal. Radical surgery is indicated, and may be associated with chemotherapy (QT) and radiotherapy (RT) adjuvants. We report a patient with CCC of uterine cervix and recurrent metastasis in young women. Patient had IA1 staging and had no contact with diethylstilbestrol. It was subjected to radical hysterectomy and tumor was moderately differentiated. At 3 years, pulmonary metastases appeared, all resected and conducted with adjuvant QT. Increased tumor size, undifferentiated histological grade and presence of metastases are poor prognostic factors, which may explain the unfavorable evolution of the patient. Although it is rare, it is essential to be part of the differential diagnosis of uterine cervix tumors, even if normal colpocytology