New strategies for the treatment of carcinoma of unknown primary / 中华肿瘤杂志

Carcinoma of unknown primary (CUP) is a kind of metastatic tumor whose primary origin cannot be identified after adequate examination and evaluation. The main treatment modality of CUP is empiric chemotherapy, and the median overall survival time is less than 1 year. Compared with immunohistochemistry, novel method based on gene expression profiling have improved the sensitivity and specificity of CUP detection, but its guiding value for treatment is still controversial. The approval of immune checkpoint inhibitors and pan-cancer antitumor agents has improved the prognosis of patients with CUP, and targeted therapy and immunotherapy based on specific molecular characteristics are the main directions of future research. Given the high heterogeneity and unique clinicopathological characteristics of CUP, "basket trial" is more suitable for clinical trial design in CUP.

Survival Outcome in True Carcinoma of Unknown Primary (tCUP) with p16 + Cervical Metastasis

Abstract Introduction Age and lymph node ratio have been attributed as independent predictors for survival and recurrence in carcinoma of unknown primary (CUP). Objective The purpose of this study was to analyze the prognostic value of p16 overexpression for CUP in the absence of true primary (TP). Methods The study involved 43 patients who underwent therapeutic lymph node dissection (LND) from 2000 to 2015 after all the diagnostic work up for CUP. Immunohistochemistry for p16 overexpression was performed. Cox proportional hazard regression analysis was used to analyze the prognostic impact on 5-year overall survival (OS) and recurrence-free survival (RFS). Results The male-to-female ratio was 5.1:1, with a median age of 62 years. The clinicopathological data, except for p16 overexpression, did not differ significantly in terms of 5-year OS and RFS. The Cox regression analysis proposed p16 positivity to be an independent prognosticator of regional recurrence-free survival (RRFS) (hazard ratio [HR] 6.180, p = 0.21). The median time to recurrence and death were 10 and 25 months, respectively. Conclusion Cervical metastasis with p16 overexpression is a significant prognostic factor of improved RFS after surgery in CUP. The prognostic significance of lymph node p16 positivity should be further studied.

Cutaneous metastasis of unknown origin: Dermatologic features and pathology

Background@#Skin metastases are rare yet crucial indicators of advanced disease. They can mimic various skin conditions, making them challenging to diagnose.@*Aims and Objectives@#To investigate the incidence rate of biopsy-confirmed cutaneous metastasis and explore the clinical presentation, workup, and diagnostic techniques for skin metastases@*Materials and Methods@#Local study involving comprehensive laboratory tests, pathological examination, and immunohistochemistry to identify primary tumors and confirm diagnoses. @*Results@#Nodules were the most common manifestation of skin metastases, particularly in breast carcinoma. The chest wall and abdomen were frequent sites of involvement. Pathological examination and immunohistochemistry played a critical role in confirming diagnoses, revealing various histopathologic patterns. Immunohistochemical markers assisted in determining tumor origin but required careful interpretation. Monitoring tumor behavior over time provided insights into nature and origins. @*Conclusion@#Comprehensive workups including laboratory testing, pathology, and immunohistochemistry are essential for accurate diagnosis and management of skin metastases. Careful monitoring of tumor behavior can provide valuable information about its nature and origins.

Current Status and Progress of Diagnostic Techniques for Cancer of Unknown Primary / 肿瘤防治研究

Cancer of unknown primary (CUP) is a heterogeneous tumor type that has been diagnosed as a metastatic tumor by pathological examination, but the primary tumor cannot be identified through comprehensive clinical examination. The incidence of CUP accounts for approximately 1%–2% of all tumors. CUP progresses rapidly and has a short course. The treatment and prognosis of patients with CUP are closely linked to the primary site. In clinical settings, identifying the primary tumor remains challenging. Scholars have focused on improving the detection rate. Novel technologies, such as gene expression profiling, high-throughput sequencing, epigenetics, and liquid biopsy, have been successively applied to identify the primary tumor of CUP accurately, sensitively and specifically. With the guidance of molecular diagnosis, targeted therapy, immunotherapy, and combination therapy will usher in the era of precision treatment for CUP, which may become a typical example for individualized therapy.

The utility of ultrasound-guided tru-cut biopsy in the diagnosis of occult breast carcinoma presenting as ovarian malignancy with multiple metastases: A case of unknown primary

@#This paper documents the utility of ultrasound-guided tru-cut biopsy in the diagnosis and subsequent management of a case of occult breast carcinoma presenting with multiple distant metastases in the absence of a primary breast lesion. She was initially diagnosed as primary ovarian malignancy with metastatic disease and subsequently underwent transvaginal ultrasound-guided tru-cut biopsy of the right ovarian mass. Histologic and immunohistochemical studies were consistent with a metastatic adenocarcinoma of breast origin. The patient underwent chemotherapy for primary breast carcinoma and has responded well.

Incidence of cancers of unknown primary origin in India and their trends during 1986–2014: A joinpoint regression analysis

Background: Cancer of unknown primary (CUP) origin is cancer in which malignant cancer cells are in the body but the site of cancer where it began is unknown. Detailed incidence and time trends of these cancers, specific to various regions in India is needed. This paper aims to summarize and report the incidence of other and unknown (O&U) cancers across India in 27 population-based cancer registries (PBCRs) and to study the trends among these cancers using joinpoint regression analysis. Methods: Data on the incidence of CUP were obtained from the published reports on 27 PBCRs of the National Cancer Registry Programme (NCRP) of the Indian Council of Medical Research (ICMR). A joinpoint regression model was used to analyze the long-term trends of incidence related to CUP based on published data from PBCRs between 1986 and 2014. Annual Percent Change (APC) in incidence rate was estimated for various registries. Results: The northeast region had the highest age-adjusted rate (AAR) for both men (1.76–29.7) and women (1.99–14.68). Age-specific rate (ASR) for both men (39.8–855.7) and women (48.2–470.4) was highest in the northeast region. There is an increase in the incidence rate for all six major registries over the past decade with an exception of women in the Delhi Cancer Registry. There is a decline in incidence rate by 0.14 during 1990–2012 in the female population of the Delhi registry. Conclusion: The increasing incidence trends of CUP is a matter of concern for the healthcare professionals and researchers. There is a need for research and advanced and improved diagnostic tools for the improvement of the status of O&U cancers.

Diagnosis and treatment of cervical lymph metastasis carcinoma from unknown primary tumor / 中华放射肿瘤学杂志

Cervical lymph metastasis carcinoma from unknown primary tumor (CCUP) accounts for 3% to 5% of all malignant tumors of head and neck. With the development of PET-CT, molecular pathology, endoscopy and other auxiliary examinations and the advancement of radiotherapy technology, the diagnostic and treatment levels of CCUP have been gradually improved. Surgery and radiotherapy are the most important treatment methods of CCUP. However, due to its low incidence and heterogeneity, prospective clinical trial data are still lacking. Hence, the optimal therapy of CCUP remains highly controversial. In this article, research progresses on the diagnosis and treatment of CCUP in recent years were reviewed.

Cutaneous metastasis on the nasal tip: first clinical sign of pulmonary carcinoid tumor

Abstract Skin metastases are rare and may occur in the context of a known metastatic disease or be the first clinical sign of an underlying primary tumor. In the case of carcinoid neoplasms, determining whether the cutaneous tumor is primary or secondary and identifying the tumor origin in metastatic cases is not always an easy task. This is the report of a case of cutaneous metastasis presenting as the first clinical manifestation of a previously unknown pulmonary carcinoid tumor, including the discussion of histopathological and immunohistochemical findings that allowed an adequate diagnosis of the tumor etiology and reinforces the importance for dermatologists and dermatopathologists to be familiar with these findings.

Swedish National Multicenter Study on Head and Neck Cancer of Unknown Primary: Prognostic Factors and Impact of Treatment on Survival

Abstract Introduction Head and neck cancer of unknown primary (HNCUP) is a rare condition whose prognostic factors that are significant for survival vary between studies. No randomized treatment study has been performed thus far, and the optimal treatment is not established. Objective The present study aimed to explore various prognostic factors and compare the two main treatments for HNCUP: neck dissection and (chemo) radiation vs primary (chemo) radiation. Methods A national multicenter study was performed with data from the Swedish Head and Neck Cancer Register (SweHNCR) and from the patients' medical records from 2008 to 2012. Results Two-hundred and sixty HNCUP patients were included. The tumors were HPV-positive in 80%. The overall 5-year survival rate of patients treated with curative intent was 71%. Age (p< 0.001), performance status (p= 0.036), and N stage (p= 0.046) were significant factors for overall survival according to the multivariable analysis. Treatment with neck dissection and (chemo) radiation (122 patients) gave an overall 5-year survival of 73%, and treatment with primary (chemo) radiation (87 patients) gave an overall 5-year survival of 71%, with no significant difference in overall or disease-free survival between the 2 groups. Conclusions Age, performance status, and N stage were significant prognostic factors. Treatment with neck dissection and (chemo) radiation and primary (chemo) radiation gave similar survival outcomes. A randomized treatment study that includes quality of life is needed to establish the optimal treatment.

Unknown primary tumor sites in spinal metastasis / Metástase vertebral em tumor primário de localização desconhecida / Metástasis vertebral en tumor primario de localización desconocida

ABSTRACT Objective: The goal of the study was to report the prevalence of spinal metastasis with unknown primary tumor, clinical features, treatment results and patient survival. Methods: A retrospective evaluation of 103 patients with spinal metastasis and epidural compression, who underwent surgical treatment between March 2009 and August 2015. The prevalence of metastatic spinal tumor with unknown primary tumor was evaluated, as well clinical features, survival and treatment results. Results: Of 103 patients with spinal metastasis and epidural compression, seven patients (6.8%) with unknown primary tumor site were identified; five (71.4%) male and two (28.6%) female, with ages ranging from 37 to 67 years (50.7 years). The metastasis was located in the thoracic spine in six of the patients (85.7%) and in the cervical spine in one (14.3%). The mean survival time was 44.8 days. Conclusion: Spinal metastasis with unknown primary tumor was found in 6.8% of patients. The prognosis and outcomes were poor, and patients had poor survival rates. Level of evidence III; Experimental study.

RESUMO Objetivo: O objetivo deste estudo foi relatar a prevalência de metástases vertebrais em tumores primários desconhecidos, suas características clínicas, resultados do tratamento e sobrevida dos pacientes. Métodos: Avaliação retrospectiva de 103 pacientes com metástase da coluna vertebral e compressão epidural, submetidos a tratamento cirúrgico entre março de 2009 e agosto de 2015. Avaliou-se a prevalência de tumores metastáticos vertebrais com tumor primário desconhecido, assim como as características clínicas, a sobrevida e os resultados do tratamento. Resultados: Dos 103 pacientes com metástase vertebral e compressão epidural, foram identificados sete pacientes (6,8%) com tumor primário de origem desconhecida; cinco pacientes (71,4%) eram do sexo masculino e dois pacientes (28,6%) do sexo feminino, com idades variando de 37 a 67 anos (50,7 anos). A localização da metástase vertebral era na coluna torácica em seis pacientes (85,7%) e na coluna cervical em um paciente (14,3%). A média de sobrevida dos pacientes foi de 44,8 dias. Conclusões: As metástases vertebrais com tumor primário de origem desconhecida foram observadas em 6,8% dos pacientes. O prognóstico e os resultados foram ruins, e os pacientes tiveram sobrevida bastante baixa. Nível de evidencia III; Estudo Comparativo Retrospectivo.

RESUMEN Objetivo: El objetivo de este estudio fue relatar la prevalencia de metástasis vertebrales en tumores primarios desconocidos, sus características clínicas, resultados del tratamiento y sobrevida de los pacientes. Métodos: Evaluación retrospectiva de 103 pacientes con metástasis de la columna vertebral y compresión epidural, sometidos a tratamiento quirúrgico entre marzo de 2009 y agosto de 2015. Se evaluó la prevalencia de tumores metastásicos con tumor primario desconocido, así como las características clínicas, la sobrevida y los resultados del tratamiento. Resultados: De los 103 pacientes con metástasis vertebral y compresión epidural, fueron identificados siete pacientes (6,8%) con tumor primario de origen desconocido; cinco pacientes (71,4 %%) eran del sexo masculino y dos (28,6%) del sexo femenino, con edades variando de 37 a 67 años (50,7 años). La localización de la metástasis vertebral era en la columna torácica en seis pacientes (85,7%) y en la columna cervical en un paciente (14,3%). El promedio de sobrevida de los pacientes fue de 44,8 días. Conclusiones: Las metástasis vertebrales con tumor primario de origen desconocido fueron observadas en 6,8% de los pacientes. El pronóstico y los resultados fueron malos y los pacientes tuvieron sobrevida bastante baja. Nivel de evidencia III; Estudio Comparativo Retrospectivo.

Metástasis ganglionar como presentación de un carcinoma papilar de tiroides oculto, variedad folicular: reporte de caso / Lymph node metastasis as a presentation of an occult papillary thyroid carcinoma, follicular variety: case report

El carcinoma oculto de tiroides está poco reportado. Se presenta el caso de una mujer de 59 años. Durante un control por hipotiroidismo se solicitó ecografía cervical, la que mostró áreas hipoecogénicas en lóbulo derecho, una formación nodular hiperecogénica circunscrita no sospechosa de 8 mm y una adenopatía cervical periglandular derecha de 20 x 12 x 8 mm con áreas quísticas y microcalcificaciones, asociadas a hipervascularización. Se solicitó punción aspirativa por aguja fina del ganglio linfático, con resultado de citología negativa para células neoplásicas. El examen microscópico es compatible con tiroiditis, por lo que no es posible descartar metástasis. Se realizó biopsia del ganglio linfático, el que se informa como metástasis ganglionar linfática de 1.3 cm, histología de carcinoma papilar variedad folicular, sin invasión extracapsular. Se realizó tiroidectomía total y disección cervical derecha. El estudio anatomopatológico reportó una tiroiditis crónica de Hashimoto con un nódulo fibroso hialinizado de 0,4 cm negativo para tumor maligno y metástasis en 4 de 28 ganglios linfáticos, sin invasión extracapsular. El tamaño de la metástasis fue de 0,3 a 0,9 cm. Posteriormente se administró 100 mci de radioyodo. Actualmente, la paciente está en buenas condiciones y mantiene controles con ecografía y tiroglobulina periódicos.

Occult thyroid carcinoma is under-reported. The case of a 59-year-old woman is presented. During a check-up for hypothyroidism, a cervical ultrasound was requested, which showed hypoechogenic areas in the right lobe, an 8 mm nonsuspicious circumscribed hyperechogenic nodular formation and a 20 x 12 x 8 mm right cervical periglandular lymphadenopathy with cystic areas and microcalcifications, associated with hypervascularisation. Fine needle aspiration of the lymph node was requested, with negative cytology results for neoplastic cells. Microscopic examination was compatible with thyroiditis, so metastasis could not be ruled out. A biopsy of the lymph node was performed, which was reported as a 1.3 cm lymph node metastasis, histology of papillary carcinoma of the follicular variety, without extracapsular invasion. Total thyroidectomy and right cervical dissection were performed. The anatomopathological study reported chronic Hashimoto's thyroiditis with a 0.4 cm hyalinised fibrous nodule negative for malignant tumour and metastases in 4 of 28 lymph nodes, without extracapsular invasion. The size of the metastasis was 0.3 to 0.9 cm. Subsequently, 100 mci of radioiodine was administered. The patient is currently in good condition and maintains regular ultrasound and thyroglobulin monitoring.

Supervivencia de pacientes con metástasis cervical de primario desconocido en el Instituto Nacional de Oncología y Radiobiología. 2007-2012

Resumen Introducción: Las metástasis cervicales con primario oculto representan el 5% de los tumores de cabeza y cuello. Su diagnóstico y tratamiento han sufrido modificaciones con los años según las diferentes investigaciones, con vistas a mayores tasas de supervivencia. Objetivo: Determinar la supervivencia global y según diferentes variables. Material y Método: Investigación retrospectiva, descriptiva y longitudinal de 96 pacientes diagnosticados en el Instituto Nacional de Oncología y Radiobiología (INOR) en el periodo 2007-2012, manteniéndose el seguimiento hasta el 31 de diciembre de 2017. Resultados: De los pacientes estudiados, 65 eran hombres (67,7%) y 31 mujeres (32,3%), para una razón de 2,1:1, con una media de edad de 61,4 años. El tabaquismo estuvo presente en el 64,6% de la población. El nivel ganglionar más afectado fue el II y 41 pacientes (42,7%) presentaron una enfermedad N1 al diagnóstico. En 42 pacientes (43,8%) estuvo presente el grado histológico poco diferenciado. Al 70,9% se les practicó cirugía con adyuvancia o sin ella y el 86,5% tuvo respuesta completa. El tumor primario apareció en el 13,5% de los casos, más frecuente en amígdala. La supervivencia global a los 5 años fue del 74% y resultaron variables determinantes de supervivencia el estado ganglionar y la extensión extraganglionar. Los resultados coinciden con la literatura revisada. Conclusión: La supervivencia global a los 5 años de los pacientes con metástasis cervical de primario oculto es elevada, tiene tendencia a mejorar con el paso de los años y está determinada por el estado ganglionar y la extensión extracapsular de forma inversamente proporcional.

Abstract Introduction: Cervical metastases with occult primary represent 5% of head and neck tumors. Its diagnosis and treatment have been modified over the years according to different investigations, with a view to higher survival rates. Aim: To determine the overall survival and according to different variables. Material and Method: A retrospective, descriptive and longitudinal investigation of 96 patients diagnosed at INOR in the period 2007-2012 was carried out, with follow-up until December 31, 2017. Results: Of the patients studied, 65 were men (67.7%) and 31 women (32.3%), for a ratio of 2.1: 1, with a mean age of 61.4 years. Smoking was present in the 64.6% of the population. The most affected lymph node level was level II and 42 patients (43.8%) presented N1 disease at diagnosis. Poorly differentiated histological grade was present in 42 patients (43.8%). 70.9% underwent surgery with or without adjuvant surgery and 86.5% had a complete response. The primary tumor appeared in 13.5% of cases, more frequent in the amygdala. Overall survival at 5 years was 74%, and survival variables were lymph node status and extranodal extension. The results coincide with the reviewed literature. Conclusion: The overall 5-year survival of patients with occult primary cervical metastasis is high, tends to improve over the years, and is determined by lymph node status and extracapsular extension in an inversely proportional manner.

Metástasis cervical con primario desconocido, cambios en los paradigmas: revisión sobre el enfrentamiento clínico, estudio y tratamiento / Cervical metastases from unknown primary tumor, paradigm changes: review on clinical confrontation, study and treatment

Resumen En adultos, una masa cervical detectada mediante examen físico o un estudio de imagen puede ser la única manifestación de un cáncer proveniente de cabeza y cuello. Un retraso en el diagnóstico repercute en el pronóstico de la enfermedad, por lo que debe haber un alto índice de sospecha. Las metástasis cervicales con primario desconocido (MCCPD) son tumores metastásicos en los que el estudio diagnóstico no logró identificar el sitio primario del cáncer, con una histología predominantemente de tipo escamosa. Según algunos estudios, el origen más frecuente resultó ser la orofaringe, incluyendo amígdala palatina y base de lengua. Factores de riesgo conocidos son edades avanzadas, consumo de tabaco y de alcohol. Actualmente, la infección por el virus del papiloma humano (VPH) está teniendo un rol cada vez más importante como factor de riesgo, formando parte de entre 20%-25% de los cánceres de cabeza y cuello. Al enfrentarse a un paciente con masa cervical es importante realizar una completa anamnesis y examen físico acucioso para detectar cualquier elemento sugerente de malignidad. Se debe complementar con nasofibroscopía para visualizar estructuras que no alcanzan a evaluarse en el examen habitual. También se puede orientar la búsqueda del primario desconocido en base a los patrones de drenaje linfático. Dentro del estudio complementario se puede comenzar con una tomografía computada (TC) y se puede considerar también el ultrasonido o un PET/TC. Si con esto aún no se logra definir el primario, continuar con una punción aspirativa con aguja fina (PAAF), luego biopsia core que consiste en tomar una muestra del centro de la lesión guiada por ecografía, si fuese necesario, incluyendo inmunohistoquímica para VPH; ambos estudios histológicos son preferibles en vez de una biopsia abierta debido al menor riesgo de diseminación y complicaciones. El siguiente paso incluye estudio endoscópico y biopsias bajo anestesia. El tratamiento de los pacientes con MCCPD, va a depender de factores relacionados con el estadio de la enfermedad: desde cirugía o radioterapia (RT) únicas, cirugía más RT, y en algunos casos quimioterapia. Se recomienda seguimiento clínico frecuente durante los primeros años y con imágenes dentro de los 6 primeros meses postratamiento.

Abstract In adults, a cervical mass detected by physical examination or an imaging study may be the only manifestation of cancer from the head and neck. A delay in the diagnosis affects the prognosis of the disease, so there must be a high index of suspicion. Cervical metastases from unknown primary tumor (CUP) are metastatic tumors in which the diagnostic study failed to identify the primary site of cancer, with predominantly squamous histology. According to some studies, the most frequent origin was the oropharynx, including palatine tonsil and tongue base. Known risk factors are advanced ages, tobacco and alcohol consumption. Currently, human papilloma virus (HPV) infection is playing an increasingly important role as a risk factor, being the cause of between 20-25% of cancers of the head and neck. When confronting a patient with cervical mass it is important to carry out a complete anamnesis and a thorough physical examination to detect any element suggestive of malignancy. Physical examination could be complemented with a flexible nasal endoscopic to evaluate structures that can not be evaluated in the habitual examination. The search for the unknown primary can also be oriented based on lymphatic drainage patterns. Within the complementary evaluations, one can start with a study of images such as computed tomography (CT) or magnetic resonance imaging (MRI) with contrast, and also could consider ultrasound or PET/CT. If the primary can not be defined yet, fine needle aspiration (FNAP) can be the next choice and then a core biopsy that consisting of taking a sample from the center of the ultrasound-guided lesion, if necessary, including immunohistochemistry for HPV; both histological studies are preferable to an open biopsy because of the lower risk of complications. The next step searching for the primary includes endoscopic study and biopsies under anesthesia. Regarding to the management of patients with CUP, it will depend on factors related to the stage of the disease: from surgery or radiotherapy (RT) only, surgery and RT, and in some cases chemotherapy. Frequent clinical follow-up is recommended during the first years and images within the first 6 months after treatment.

The utility of ultrasound-guided tru-cut biopsy in the diagnosis of Occult Breast Carcinoma presenting as Ovarian Malignancy with Multiple Metastases: A case of unknown primary

@#This paper documents the utility of ultrasound-guided tru-cut biopsy in the diagnosis and subsequent management of a case of occult breast carcinoma presenting with multiple distant metastases in the absence of a primary breast lesion. She was initially diagnosed as primary ovarian malignancy with metastatic disease and subsequently underwent transvaginal ultrasound-guided tru-cut biopsy of the right ovarian mass. Histologic and immunohistochemical studies were consistent with a metastatic adenocarcinoma of breast origin. The patient underwent chemotherapy for primary breast carcinoma and has responded well.

Tomografía por emisión de positrones con 18F-fluordeoxiglucosa-tomografía computarizada en el diagnóstico del tumor primario de origen desconocido / Value of 18F-fluorodeoxyglucose positron emission tomography/computed tomography ın the diagnosis of carcinoma of unknown primary origin

Introducción: La incidencia de tumores primarios de origen desconocido en pacientes oncológicos es del 0,5 al 7 por ciento en el momento del diagnóstico con una supervivencia a los 3 y 5 años de 11 y 6 por ciento, respectivamente. Objetivo: valorar la utilidad de la técnica PET/CT-FDG (Tomografía por emisión de positrones con 18F-Fluordeoxiglucosa) en el diagnóstico de tumor primario de origen desconocido (TOD). Material y método: Se analizaron retrospectivamente los estudios PET/CT-FDG realizados en pacientes con el diagnóstico de TOD para la búsqueda de tumor primario, con estudios convencionales previos negativos, entre noviembre de 2017 y junio de 2018. El diagnóstico final se estableció mediante confirmación histológica y/o seguimiento clínico/radiológico por 8 meses. Resultados: 42 pacientes fueron estudiados, en 19 estudios PET/CT se evidenciaron focos de captación sugestivos de tumor primario, de los cuales 9 se confirmaron histológicamente como verdaderos positivos y sólo 1 correspondió a un falso positivo. De los 23 pacientes con PET/CT negativos para tumor primario, todos continuaron con diagnóstico de TOD a pesar de las múltiples pruebas diagnósticas. Conclusiones: La técnica PET/CT permitió identificar el 45,2 por ciento de los tumores primarios en la muestra de pacientes, lo que la convierte en una herramienta útil para el diagnóstico en pacientes con metástasis de origen desconocido. Se considera que el PET/CT-FDG debe ser incluido de manera precoz en los algoritmos diagnósticos en Cuba, permitiendo orientar la realización de pruebas complementarias subsiguientes(AU)

Introduction: The incidence of carcinoma of unknown primary origin in oncologic patients is from 0,5 percent to 7 percent at the time of diagnosis with an overall 3-year and 5-year survival of 11 percent and 6 percent, respectively. Objective: To assess the effectiveness of 18 F-FDG-PET/CT (18F-fluorodeoxyglucose posıtron emıssıon tomography) in the diagnosis of carcinoma of unknown primary origin (CUP). Material and Methods: F-FDG-PET/CT studies were conducted in patients with CUP in the search for primary tumor with negative previous conventional studies carried out from November, 2017 to June 2018. The final diagnosis was established by histological confirmation and/or clinical/radiological follow-up during 8 months. Results: A total of 44 patients were studied. There were evidences of suggestive CUP in 19 patients; 9 of them were histologically confirmed as true-positive and only 1 was a false-positive. Of the 23 patients with negative F-FDG-PET/CT studies for primary tumor, all of them continued with the diagnosis of CUP in spite of multiples diagnostic tests. Conclusions: The FDG-PET/CT technique allowed to identify 45,2 percent of the primary tumors in this study, which demonstrates that it is very useful tool for the diagnosis of metastases of unknown origin. It is considered that F-FDG-PET/CT studies should be included earlier in the diagnostic algorithms in Cuba, which will allow to indicate subsequent complementary tests(AU)

Melanoma maligno gastrointestinal de origen primario desconocido: reporte de caso / A case report of malignant gastrointestinal melanoma of unknown primary origin

Resumen Una de las características inusuales del melanoma cutáneo es la capacidad de metastatizar en el intestino delgado. A menudo se diagnostica durante la autopsia, en la cual se ha encontrado depósitos metastásicos en el 50%-60% de los casos, pero menos del 2% al 4% de los pacientes con diagnóstico de melanoma tiene metástasis gastrointestinal (GI) durante el curso de la enfermedad y entre el 4%-9% de casos de melanoma GI tiene un primario desconocido. La rápida identificación y resección del melanoma en el tracto digestivo podría mejorar la tasa de supervivencia en aquellos pacientes en los que se presentan complicaciones, como obstrucción intestinal. Se presenta un caso clínico de melanoma gastrointestinal de origen primario desconocido. El porcentaje de este tipo de casos es poco frecuente. La paciente presentó cuadro clínico de náuseas, hiporexia, epigastralgia, fatiga, parestesias en región dorsal derecha y disminución de 9 kilogramos en 3 semanas. Le realizaron tomografía computarizada (TAC) de abdomen contrastado, que reportó 3 lesiones en hígado de predominio isodenso en el parénquima, con algunas áreas de menor densidad al interior, localizadas en los segmentos 2, 5, 7 y 8 del hígado al que se le realizó la biopsia. Se llevó a cabo endoscopia de vías digestivas altas con biopsia de 2 lesiones hiperpigmentadas en la segunda porción de duodeno. El examen histopatológico de las biopsias evidenció melanoma maligno. Se excluyeron todas las localizaciones típicas de melanoma primario durante el procedimiento diagnóstico.

Abstract One of the unusual characteristics of cutaneous melanoma is its ability to metastasize in the small intestine. It is often diagnosed during autopsies of cutaneous melanoma patients. Metastatic deposits have been found in 50% to 60% of these autopsies, but less than 2% to 4% of patients diagnosed with melanoma have gastrointestinal metastasis during the course of the disease. Between 4% and 9% of gastrointestinal melanoma cases have unknown primary tumors. Rapid identification and resection of melanoma in the digestive tract could improve the patient survival rate and prevent complications such as intestinal obstructions from occurring. We present a rare clinical case of gastrointestinal melanoma of unknown primary origin. The patient had a clinical picture of nausea, hyporexia, epigastralgia, fatigue, paresthesias in the right dorsal region and had lost nine kilograms in three weeks. An abdominal CT scan showed three predominantly isodense liver lesions in the parenchyma, with some areas of lower density located in segments 2,5,7 and 8 of the liver. These were biopsied. Upper digestive tract endoscopy took biopsy samples of two hyperpigmented lesions in the second portion of the duodenum. Histopathological examination showed malignant melanoma. All typical locations of primary melanoma were excluded during the diagnostic procedure.

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.

Tumores hepáticos primarios malignos no hepatocarcinoma ni colangiocarcinoma / Primary malignant hepatic tumors other than hepatocarcinoma or cholangiocarcinoma: a series of cases

Background: There are several types of primary malignant hepatic tumors (PMHT) other than hepatocellular carcinoma (HCC) and cholangiocarcinoma (CC): they are infrequent and poorly known. Imaging studies could help characterize the lesions and may guide the diagnosis. However, the definitive diagnosis of PMHT is made by pathology. Aim: To review a registry of liver biopsies performed to diagnose hepatic tumors. Patients and Methods: Review of a pathology registry of liver biopsies performed for the diagnosis of liver tumors. Among these, 25 patients aged 57 ± 17 years, 60% males, in whom a liver tumor other than a HCC or CC was diagnosed, were selected for review. The medical records of these patients were reviewed to register their clinical characteristics, imaging and the pathological diagnosis performed during surgery and/ or with the percutaneous liver biopsy. Results: Ten patients (40%) had neuroendocrine tumors, six (24%) had a lymphoma and four (16%) had hepatic hemangioendothelioma. Angiosarcoma and sarcomatoid carcinoma were diagnosed in one patient each. In 22 patients (88%), neither clinical features nor imaging studies gave the correct diagnosis. Four patients (16%) had chronic liver disease. The most frequent symptoms were weight loss in 28% and abdominal pain in 24%. Conclusions: The most common PMHT other than HCC and CC were neuroendocrine tumors and lymphomas. Imaging or clinical features were not helpful to reach the correct diagnosis.

Adenopatía axilar metastásica a causa de cáncer primario oculto de mama / Axillary metastatic adenopathy due to hidden breast primary cancer

Se describe el caso clínico de una paciente de 56 años que acudió a la consulta de Oncología del Hospital Gubernamental de Mbabane, en Swazilandia, por padecer una adenopatía en la axila izquierda de varios meses de evolución, confirmada por ecografía. Se realizó una biopsia por aspiración con aguja fina, cuyo resultado reveló la metástasis de un carcinoma ductal. Se completaron los estudios preoperatorios, se determinó el estadio de la entidad clínica (IIA) y se remitió a la paciente a la consulta de Cirugía para realizar una disección axilar y luego aplicar radioterapia en la axila y la mama

The clinical report of a 56 year-old patient who went to the Oncology Service of the Government Hospital from Mbabane, in Swaziland, for suffering an adenopathy in the left armpit with a clinical course of several months, confirmed by echography is described. An aspiration biopsy with fine needle was carried out whose result revealed the metastasis of a ductal carcinoma. The preoperative studies were completed, the stage of the clinical entity was determined (IIA) and the patient was referred to the Surgery service to carry out an axillary dissection and then to apply radiotherapy in the armpit and breast

Abordaje diagnóstico de tumor primario desconocido: la fiebre de origen oscuro de las neoplasias / Diagnostic approach of unknown primary tumor: fever of obscure origin of neoplasms

Resumen: El diagnóstico de un tumor primario desconocido suele ser difícil por su comportamiento clínico-patológico, su clínica emerge tardíamente de tal manera que la integración de un protocolo diagnóstico a partir de un síntoma o hallazgo clínico inespecífico condiciona el retraso de su abordaje. Las características propias de este tumor le confieren las herramientas mínimas necesarias para abandonar tempranamente su nicho de origen, diseminándose y alojándose distante al mismo, es decir, una metástasis temprana. El desarrollo de técnicas moleculares que sobrepasan la patología clásica ha sido una herramienta invaluable para su clasificación, teniendo la intención absoluta de separar los potencialmente sensibles a un tratamiento oncológico de los que no lo son. Sin rasgos distintivos que te permitan suponerlo, ante un clínico avezado la sospecha inicial de esta entidad es la mejor herramienta diagnóstica.

Abstract: The diagnosis of an unknown primary tumor is usually difficult due to its clinical-pathological behavior; its clinical manifestation is delayed so that the integration of a diagnostic protocol from a symptom or nonspecific clinical finding determines the delay of its approach. The characteristics of this tumor give it the minimum necessary tools to leave its niche of origin early, disseminating and staying distant from it, that is, an early metastasis. The development of molecular techniques that surpass the classic pathology has been an invaluable tool for its classification, having an absolute intention to separate those potentially sensitive to oncological treatment from those that are not. Without distinctive features that allow supposing it, before a seasoned clinician the initial suspicion of this entity is the best diagnostic tool.