Presentación clínica de patologías no malignas que simulan leucemia cutis: a propósito de dos casos / Clinical presentation of non-malignant diseases mimicking leukemia cutis: A report of two cases

La infiltración cutánea por células leucémicas conocida como leucemia cutis es una presentación infrecuente de esta patología y constituye un desafío diagnóstico. Los diagnósticos como infecciones, otras patologías neoplásicas con afectación cutánea y los trastornos histiocíticos, entre otros, constituyen los principales diagnósticos diferenciales, ya que configuran un escenario pronóstico y terapéutico diferente. Se presentan dos pacientes que fueron diagnosticados inicialmente como leucemia cutis, cuyo diagnóstico final fue de patologías no malignas.

The infiltration of leukemia cells into the skin, known as leukemia cutis, is a rare presentation of this disease and accounts for a diagnostic challenge. The main differential diagnoses include infections, other neoplastic diseases with skin involvement and histiocytic disorders, among others, as they entail different prognostic and therapeutic approaches. Here we describe two patients who were initially diagnosed with leukemia cutis, whose final diagnosis was of non-malignant diseases.

Blastic plasmacytoid dendritic cell neoplasm: A clinico-pathological retrospective analysis of thirteen cases / 北京大学学报(医学版)

OBJECTIVE@#To investigate the clinicopathological features of blastic plasmacytoid dendritic cell neoplasm (BPDCN).@*METHODS@#A total of 13 cases of BPDCN diagnosed in Peking University First Hospital from January 2013 to March 2022 were collected. The clinical features, histopathological characteristics, immunophenotypes and prognosis of the patients were analyzed retrospectively, and the related literatures was reviewed as well.@*RESULTS@#Among the 13 patients, 11 were male and 2 were female, with a median age of 62 years (ranging from 5 to 78 years). Among them, single organ involvement occurred in 5 cases, all of which presented with skin lesions. Two or more organs were involved in other 8 cases (single organ with bone marrow involved in 3 cases; skin, bone marrow and lymph node involved simultaneously in 3 cases; skin, bone marrow, lymph node and spleen involved simultaneously in 2 cases). Histopathologically, it was characterized by the proliferation of medium to large atypical blastic cells, which infiltrated the whole thickness of dermis. When involved, the bone marrow lesions mainly appeared in a diffuse pattern, while the lymph node structure was usually destroyed, and the red pulp of the affected spleen was diffusely invaded. Immunohistochemical staining showed that all the 13 cases were positive for CD4, CD56, and CD123 (13/13) in varying degrees. All the 9 cases expressed TCL1 (9/9). Variable expression of CD68 (KP1) (8/13), TdT (7/12), CD117 (2/6), and high Ki-67 proliferation index (40%~80%) were showed. The neoplastic cells lacked expressions of CD20, CD3, MPO, CD34, or CD30; EBER in situ hybridization were negative (0/9). After definite diagnosis, 6 cases received chemotherapy, among which 1 received adjuvant radiotherapy, and 2 received subsequent bone marrow transplantation. Another 2 cases only received maintenance treatment. The median follow-up time was 14 months (ranging from 6 to 36 months), 5 patients died of the disease (6 to 18 months), 3 patients survived (7 to 36 months up to now), and the remaining 5 patients lost follow-up.@*CONCLUSION@#BPDCN is a rare type of malignant lymphohematopoietic tumor with aggressive behavior and poor prognosis. The diagnosis should be made combining clinical features, histopathology, and immunohistochemical phenotype. Attention should be paid to differentiating BPDCN from other neoplasms with blastoid morphology or CD4+CD56+ tumors.

Clinical Characteristics and Treatment of Blastic Plasmacytoid Dendritic Cell Neoplasm / 中国实验血液学杂志

OBJECTIVE@#To explore the clinical manifestations, diagnosis, treatment and prognosis of blastic plasmacytoid dendritic cell neoplasm(BPDCN).@*METHODS@#The clinical features, bone marrow morphology and immunophenotyping, treatment and prognosis of 4 patients with BPDCN were analyzed retrospectively.@*RESULTS@#4 patients had bone marrow， spleen and lymph nodes involvement， 2 patients had skin lesions， and 3 patients had central nervous system infiltration． Tailing phenomenon of abnormally cells could be seen in bone marrow. The immunophenotyping showed that CD56, CD4 and CD123 expression was observed in 4 patients， and CD304 in 3 patients． One patient refused chemotherapy and died early. Both patients achieved complete remission after the initial treatment with DA+VP regimen, 1 of them achieved complete remission after recurrence by using the same regimen again． One patient failed to respond to reduced dose of DA+VP chemotherapy, and then achieved complete remission with venetoclax+azacitidine.@*CONCLUSION@#The malignant cells in BPDCN patients often infiltrate bone marrow, spleen and lymph nodes, and have specical phenotypes, with poor prognosis. The treatment should take into account both myeloid and lymphatic systems. The treatment containing new drugs such as BCL-2 inhibitors combined with demethylation drugs is worth trying.

Cryptic COL1A1-PDGFB fusion in dermatofibrosarcoma protuberans: a clinicopathological and genetic analysis / 中华病理学杂志

Objective: To investigate the clinicopathological and cytogenetic features of cryptic COL1A1-PDGFB fusion dermatofibrosarcoma protuberans (CC-DFSP). Methods: Three cases of CC-DFSP diagnosed in West China Hospital, Sichuan University, Chengdu, China from January 2021 to September 2021 were studied. Immunohistochemistry for CD34 and other markers, fluorescence in situ hybridization (FISH) for PDGFB, COL1A1-PDGFB and COL1A1, next-generation sequencing (NGS), reverse-transcriptase polymerase chain reaction (RT-PCR) and Sanger sequencing were performed. Results: There were three cases of CC-DFSP, including two females and one male. The patients were 29, 44 and 32 years old, respectively. The sites were abdominal wall, caruncle and scapula. Microscopically, they were poorly circumscribed. The spindle cells of the tumors infiltrated into the whole dermis or subcutaneous tissues, typically arranging in a storiform pattern. Immunohistochemically, the neoplastic cells exhibited diffuse CD34 expression, but were negative for S-100, SMA, and Myogenin. Loss of H3K27me3 was not observed in the tumor cells. The Ki-67 index was 10%-15%. The 3 cases were all negative for PDGFB rearrangement and COL1A1-PDGFB fusion, whereas showing unbalanced rearrangement for COL1A1. Case 1 showed a COL1A1 (exon 31)-PDGFB (exon 2) fusion using NGS, which was further validated through RT-PCR and Sanger sequencing. All patients underwent extended surgical resection. Except for case 3 with recurrence 2 years after surgical resection, the other 2 cases showed no recurrence or metastasis during the follow-up. Conclusions: FISH has shown its validity for detecting PDGFB rearrangement and COL1A1-PDGFB fusion and widely applied in clinical detection. However, for cases with negative routine FISH screening that were highly suspicious for DFSPs, supplementary NGS or at least COL1A1 break-apart FISH screening could be helpful to identify cryptic COL1A1-PDGFB fusions or other variant fusions.

Clinical Analysis of Patients with Blastic Plasmacytoid Dendritic Cell Neoplasm / 中国实验血液学杂志

OBJECTIVE@#To explore the clinical characteristics, treatment, and prognosis of patients with blastic plasmacytoid dendritic cell neoplasm(BPDCN).@*METHODS@#Clinical data of 5 patients diagnosed with BPDCN in Wuhan First Hospital and Wuhan Tongji Hospital from June 2016 to November 2021 were retrospectively analyzed.@*RESULTS@#Among the 5 patients, 3 were male and 2 were female, with a median age of 28(10-52) years old. Four patients showed obvious skin damage at the initial diagnosis; the other one showed clinical manifestations of acute leukemia rather than obvious skin damage at the initial diagnosis, but infiltrated skin when the disease relapsed after treatment. Other infiltration sites of lesions included bone marrow (2/5), peripheral blood (2/5), lymph nodes (3/5), liver and spleen (2/5). All patients had no clinical manifestation of central nervous system infiltration. Tumor cell specific immune markers CD4, CD56, CD123 were all positive, and the median Ki-67 index was 70%. TET2, ASXL1 and NRAS gene mutations were found respectively in 3 patients by next-generation sequencing technique (NGS). ALL-like, AML-like and invasive NK/T cell lymphoma-like first-line induction chemotherapy regimens were used for the patients. One patient died of severe complications during the early stage of chemotherapy, 3 patients were evaluated as CR, and 1 patient was evaluated as PR. 2 patients were recurred and progressed after induction of chemotherapy, and one of them was evaluated as CR after re-treatment. One patient received autologous hematopoietic stem cell transplantation (auto-HSCT) and got long-term survival (OS 87 months). 3 patients received allogeneic hematopoietic stem cell transplantation (allo-HSCT), of which one died of transplantation related complications, and 2 cases survived. The median follow-up time of 4 patients with evaluable efficacy was 28.5(9-84) months, the median OS time was 31.5(10-87) months.@*CONCLUSION@#BPDCN is a highly heterogeneous malignant tumor with a poor prognosis. HSCT, especially allo-HSCT can significantly improve the prognosis of BPDCN patients.

Blue Nevus Hidden within the Nevus of Ota / 中国医学科学杂志(英文版)

A 3-year-old boy presented with bluish patch and scattered blue spots on the left side of his face. After several sessions of laser treatment, the azury patch in the periorbital area became even darker. Histopathology showed many bipolar, pigment-laden dendritic cells scattered in the papillary and upper reticular dermis. Immunohistochemically, these cells were positive for S100, SOX-10, melan-A, P16, and HMB-45. The positive rate of Ki-67 was less than 5%. Finally, the lesion was diagnosed with nevus of Ota concurrent with common blue nevus. Therefore, for cases of the nevus of Ota with poor response to laser treatment, the possible coexisting diseases should be suspected.

Microemulsions Improve Topical Protoporphyrin IX (PpIX) Delivery for Photodynamic Therapy of Skin Cancer

Abstract We report here microemulsions (MEs) for topical delivery of protoporphyrin IX (PpIX) for Photodynamic Therapy (PDT) of skin cancers. Selected MEs consisting of Oil/Water (O/W) bicontinuous (BC) and Water/Oil (W/O) preparations were characterized as to pH, nanometric size, zeta potential, drug content, and viscosity. Sustained in vitro PpIX release was achieved from MEs 2A (O/W), 10B (BC) and 16B (W/O) through an artificial membrane for up to 24 h, characterizing MEs as drug delivery systems. None of these MEs showed permeation through the skin, demonstrating the required topical effect. After 4 h, in vitro retention of PpIX in the stratum corneum (SC) was higher from both ME 10B and control (PpIX at 60 µg/mL in PEG 300). However, in the Epidermis + Dermis ([Ep + D]), retention from ME 10B and ME 16B was ~40 times higher compared to control. Confocal Laser Scanning Microscopy (CLSM) showed higher fluorescence intensity in the SC for both control and ME 10B, whereas ME 10B fluorescence was higher in [Ep+D]. The results indicate that ME 10B is suitable for PpIX encapsulation, showing good characteristics and a localized effect for a potential delivery system for PDT-associated treatments of skin cancers.

Epidemiología y características anatomoclínicas del melanoma maligno en un instituto oncológico / Epidemiology and clinical features of malignant melanoma. Analysis of 274 cases

BACKGROUND: Malignant melanoma (MM) is the most fatal cutaneous neoplasm. Its incidence is increasing progressively, which cannot be explained only by early diagnosis. Chilean population, due to the geography of the country, has a very varied solar exposure. AIM: To know the incidence of MM in a Chilean population, according to the level of sun exposure and to describe its clinical and histopathological characteristics. MATERIAL AND METHODS: Two hundred seventy-four surgeries for malignant melanoma with histological confirmation, carried out between 2016 and 2018 in an oncological institute were included. RESULTS: The annualized incidence of MM was 13.83 cases per 100,000 people over 15 years of age in the 2016-2018 period. The geographical distribution of the incidence did not have a clear relationship with sun exposure. The most frequent locations of the primary lesions were trunk, head/neck and lower limb. Sixty-one per cent of cases were invasive MM; lesion thickness and presence of ulceration were associated with a higher risk of sentinel node involvement. CONCLUSIONS: No association between the level of sun exposure and the incidence of MM was observed in this study.

Clinicopathological features of congenital hemangioma: a study of 40 cases / 中华病理学杂志

Objective: To investigate the clinical and pathologic features, diagnosis and differential diagnosis of congenital hemangioma (CH). Methods: Forty cases of CH were diagnosed from January 2017 to December 2020 in Henan Provincial People's Hospital. The clinical and pathological and immunohistochemical data were analyzed, with review of literature. Results: There were 24 male and 16 female patients. The lesions were located in the head, neck (11 cases), limbs (14 cases), and trunk (15 cases). The clinical manifestations were congenital painless plaques or masses, the larger ones protruded on the skin surface, mostly dusky purple or bright red, with surrounding white halos. Under low magnification, the tumor was lobular and well demarcated, composed of neo-microvascular lumen of different sizes. The vascular endothelial cells were cuboidal or hobnail in appearance, forming stellar drainage vessels within the lobules. Extra-medullary hematopoiesis was seen in one case of rapidly involuting CH; there were different number of tortuous and dilated vascular lumen between the lobular structures, and some non-involuting CH cases were vascular malformations, which were devoid of lobulated structures. Immunohistochemistry showed that endothelial cells were strongly positive for CD31, CD34 and ERG, while D2-40 and GLUT-1 were negative. Conclusions: CH is a benign congenital vascular tumor with characteristic lobulated growth and abnormal blood vessels in the stroma. Pathological diagnosis often needs to be differentiated from infantile hemangioma, pyogenic granuloma, kaposiform hemangioendothelioma and vascular malformation.

Nanoformulations of quercetin: a potential phytochemical for the treatment of uv radiation induced skin damages

Abstract The continuous prolonged exposures of sun light especially the ultra violet (UV) radiation present in it, cause not only the risk of skin cancer but also it may cause premature skin aging, photodermatoses and actinic keratoses. Flavonoids (including Flavane, Flavanone, Flavone, Flavonol, Isoflavone, Neoflavone etc.) having potent antioxidant activity, used as topical applications for protection against UV induced skin damages as well as for skin care. Most commonly used flavonoid is quercetin (Flavonol), which is present in fruits, vegetables, and herbs. We aim to review the research focused on development of different novel formulations to treat UV radiations induced skin diseases. In this review, several formulations of flavonoid quercetin were discussed and their outcomes were compiled and compared in context to solubility, stability and efficiency of application. On the basis this comparative analysis we have concluded that three formulations, namely glycerosomes, nanostructured lipid carriers and deformable liposomes hold good applications for future aspects for topical delivery of quercetin. These formulations showed enhanced stability, increased quercetin accumulation in different skin layers, facilitated drug permeation in skin and long-lasting drug release.

Análise do perfil clínico de pacientes portadores de neoplasia ocular escamosa atendidos em hospital referência de oculoplástica / Analysis of the clinical profile of patients with squamous ocular neoplasms attended at a reference hospital of oculoplastics

RESUMO Objetivo Analisar o perfil clínico de pacientes portadores de neoplasias escamosas da superfície ocular. Métodos Foram avaliados os principais fatores de risco envolvidos na gênese das neoplasias escamosas da superfície ocular, as características clínicas dos pacientes e os hábitos comportamentais associados. Foram incluídos neste trabalho de coorte histórica 80 pacientes com diagnóstico anatomopatológico de neoplasia escamosa da superfície ocular atendidos entre os anos de 2010 e 2020 em um hospital referência em oculoplástica e segmento anterior de Santa Catarina. Os dados clínicos e desfechos foram avaliados por meio da análise de prontuário e entrevista, sendo posteriormente tabulados no Excel e submetidos à analise estatística por meio do software Statistical Pakage for the Social Sciences, versão 16. Resultados Foi observado que 73,8% (n=59) eram do sexo masculino. A média de idade da amostra foi de 62 anos. Quanto ao fototipo de pele, de acordo com a escala de Fitzpatrick, constatou-se que a maioria apresentou os fototipos 1 e 2 (22; 27,5% e 44; 55%, respectivamente). Em relação à exposição ocupacional ao sol/radiação, 48% (n=60) apresentaram história de exposição ocupacional, sendo que, destes, 28 pacientes trabalhavam no setor de agricultura. Dos pacientes da amostra, 33 (41,2%) apresentavam histórico pessoal de neoplasias de pele, sendo que, destes, três apresentavam diagnóstico de xeroderma pigmentoso. Quanto ao hábito de uso de fatores de proteção solar, 61% (n=49) da amostra negou o hábito. Foi evidenciada associação estatisticamente significativa entre o hábito de usar fatores de proteção solar e histórico pessoal de neoplasias de pele. Em relação ao tipo de neoplasia escamosa, a maioria dos pacientes (72; 90%) apresentou diagnóstico anatomopatológico de carcinoma espinocelular ocular. Conclusão O perfil clínico epidemiológico dos pacientes portadores de neoplasias escamosas da superfície ocular neste estudo, predominantemente de carcinoma espinoceular ocular, foi de homens, idosos, de pele clara (fototipo 2) e com histórico importante de exposição aos raios solares ultravioleta A e B. Comorbidades imunodepressoras (HIV e transplante de órgão sólido) e doenças dermatológicas (albinismo e xeroderma pigmentoso) associaram-se ao aparecimento das neoplasias escamosas da superfície ocular em idade mais precoce. Em pacientes com histórico pessoal prévio de neoplasias de pele, foi evidenciado o hábito de uso de fatores de protetor solar mais presente em relação aos demais.

ABSTRACT Objective To analyze the clinical profile of patients with ocular surface squamous neoplasms (OSSN). Methods The main risk factors involved in the genesis of the ocular surface squamous neoplasms, the clinical features, and the behavioral habits associated were evaluated. This historical cohort study included 80 patients with anatomopathological diagnosis of OSSN who were treated between 2010-2020 at a reference hospital in oculoplastic and anterior segment in Santa Catarina. The clinical data and outcomes were evalated through the analysis of medical records and interviews, being later tabulated in Excel and analyzed using the SPSS 16 software. Results Regarding the clinical profile of the patients in the sample, 73.8% (n = 59) were male. The mean age of the sample was 62 years old. As for the skin phototype, according to the Fitzpatrick scale, most of the sample presented the phototype 1 and 2 (27.5% n = 22; and 55% n = 44 respectively). Regarding occupational exposure to the sun / radiation, 48% (n = 60) had history of occupational exposure, and of these, 28 patients worked in the agricultural area. Of the patients of the sample, 33 (41.2%) had a personal history of skin neoplasms, and of these, 3 had diagnosis of xeroderma pigmentosum. As for the habit of using sun protection factors, 61% (n = 49) of the sample denied the habit. A statistically significant association was evidenced between the habit of using sun protection factors and people's history of skin cancer. Regarding the type of squamous neoplasia, most patients in the 90% sample (n = 72) had an anatomopathological diagnosis of ocular squamous cell carcinoma. Conclusion The clinical epidemiological profile of patients with OSSN in this study, predominantly ocular squamous cell carcinoma, was men, elderly, fair-skinned (phototype 2) and with an important history of exposure to UVA and UVB rays. Immunosuppressive comorbidities (HIV, solid organ transplant) and dermatological diseases (albinism, xeroderma pigmentosum) are associated with the appearance of OSSN at an early age. In patients with a previous personal history of skin neoplasms, the habit of using sunscreen factors was more present than in the other patients.

Estudo do composto STX140, um análogo do estradiol, em linhagens de melanoma humano / STX140 compound study in human melanoma

O câncer de pele pode ser classificado como não melanoma e melanoma. O melanoma apresenta baixa incidência entre os cânceres de pele, porém é a forma mais letal e é considerado um dos tipos mais resistentes ao tratamento. Devido à infiltração de células malignas nos tecidos, vasos linfáticos e vasos sanguíneos, o melanoma invade e se espalha rapidamente. Suas metástases são frequentemente localizadas em linfonodos, cérebro, fígado e outros órgãos. Melanomas metastáticos abrigam múltiplas mutações gênicas e muitos tumores apresentam resistência aos tratamentos, como por exemplo com inibidores BRAF, devido à mutações e ativação de vias paralelas. Ou seja, existe uma necessidade clara da busca de novas opções de tratamento. Em trabalho realizado por nosso grupo, Massaro et al mostraram que o derivado de estradiol 2- Metoxiestradiol induz apoptose em células de melanoma e senescência. Neste sentido, o composto STX140, (um análogo do estradiol com biodisponibilidade superior), que já se mostrou eficaz no combate ao câncer de mama em diversos estudos in vitro e in vivo, será então avaliado para sua ação no melanoma de forma inédita. Este trabalho teve como principal objetivo explorar a ação antitumoral em células de melanoma do composto STX140, especialmente a indução de senescência. Utilizando a cultura de células de melanoma foram realizados os ensaios de: viabilidade celular - IC50, formação de colônias, análise do ciclo celular e caracterização de morte celular por citometria de fluxo, ensaio In vitro scratch, coloração para ß-galactosidase, PCR quantitativo e ELISA. Os resultados mostraram que o composto STX140: diminui a viabilidade celular, inibe a proliferação, formação de colônias e migração em linhagens de melanoma (não resistentes e resistentes ao vemurafenibe, inibidor de BRAF). Além do mais, o composto atuou diminuindo a secreção da interleucina pró-tumoral IL-8 em células resistentes. O STX140 induziu senescência nas células de melanoma que foram positivas para ß-galactosidase, também havendo aumento da expressão de genes chave de vias de senescência (CDKN1A e GADD45A) nas células de melanoma resistentes tratadas com o composto. Em conclusão, o STX140 mostrou ter um potencial antitumoral contra o melanoma, diminuindo sua viabilidade celular, inibindo sua proliferação e migração, induzindo senescência, diminuindo a secreção de interleucina pró- tumoral, com efeito mais acentuado nas linhagens de melanoma resistente

Skin cancer can be classified as non-melanoma and melanoma. Melanoma has a low incidence among skin cancers, but it is the most lethal form and is considered one of the most resistant to treatment. Due to the infiltration of malignant cells into tissues, lymphatic vessels and blood vessels, melanoma invades and spreads rapidly. Its metastases are often located in lymph nodes, brain, liver and other organs. Metastatic melanomas presents multiple gene mutations and many tumors are resistant to treatments, such as with BRAF inhibitors, due to mutations and activation of parallel pathways. In other words, there is a clear need to search for new treatment options. In work carried out by our group, Massaro et al showed that the estradiol derivative 2- Methoxyestradiol induces apoptosis in melanoma cells and senescence. In this sense, the compound STX140, (an estradiol analogue with superior bioavailability), which has already been shown to be effective against breast cancer in vitro and in vivo studies will be then evaluated for its action on melanoma. The main objective of this work is to explore the antitumor action of the compound STX140 in melanoma cells, especially the induction of senescence. Using the melanoma cell culture the following assays were performed: cell viability - IC50, clonogenic, cell cycle analysis and cell death characterization by flow cytometry, wound assay, staining for ß-galactosidase, quantitative PCR and ELISA. Preliminary data from this work showed that the compound STX140: decreases cell viability, inhibits proliferation, colony formation and migration in melanoma cell lines (non-resistant and resistant to vemurafenib, BRAF inhibitor). It also decreased the secretion of pro-tumor interleukin IL-8 in resistant cells. STX140 induced senescence in melanoma cells, that were positive for ß-galactosidase, and there was also increased expression of key genes of senescence pathways (CDKN1A and GADD45A) in resistant melanoma cells treated with the compound. In conclusion, STX140 has been shown to have antitumor potential against melanoma, decreasing its cell viability, inhibiting its proliferation and migration, inducing senescence, decreasing pro-tumor interleukin secretion, with a more pronounced effect on resistant melanoma cell lines

Carcinomatosis meníngea secundaria a melanoma metastásico: reporte de un caso / Meningeal carcinomatosis secondary to metastatic melanoma: a case report

Resumen La carcinomatosis meníngea es una entidad poco frecuente, que puede formar parte de la historia natural de muchos procesos neoplásicos. Se presenta habitualmente con síntomas poco específicos, como cefalea, cambios en la conducta o alteraciones motoras y sensitivas. A continuación, presentamos el caso de una paciente con carcinomatosis meníngea por melanoma metastásico y su evolución clínica.

La carcinomatosis meníngea es una entidad poco frecuente, que puede formar parte de la historia natural de muchos procesos neoplásicos. Se presenta habitualmente con síntomas poco específicos, como cefalea, cambios en la conducta o alteraciones motoras y sensitivas. A continuación, presentamos el caso de una paciente con carcinomatosis meníngea por melanoma metastásico y su evolución clínica.

Tumor fibroblástico inguinal superficial positivo para CD34: reporte de un caso y revisión de la literatura / Inguinal superficial cd34-positive fibroblastic tumor: case report and literature review

El tumor fibroblástico superficial de tejidos blandos positivo para antígeno CD34 (CD34) es un tumor raro, de baja frecuencia, que se caracteriza histológicamente por un marcado pleomorfismo, baja actividad mitótica, e inmunoreactividad difusa para CD34. Puede tener un comportamiento similar al de un tumor mesenquimal de malignidad intermedia. Existen sólo 52 casos publicados en la literatura. Se presenta el caso de una paciente de 31 años con una masa en tejidos blandos en región inguinal izquierda, de crecimiento progresivo, de varios meses de evolución dolorosa. La masa fue biopsiada y, con la sospecha de un tumor fibroblástico superficial positivo para CD34, fue posteriormente tratada con una resección ampliada de la lesión y con cobertura del defecto en la piel con un colgajo local de avance de V-Y, con una evolución satisfactoria en su seguimiento postquirúrgico. El reporte de patología confirmó la sospecha diagnóstica de un tumor con reactividad fuerte para CD34, con proteína P53 en 60% a 70%, antígeno Ki67 menor al 15%, sin pérdida de proteína nuclear INI-1, y negatividad para CD31, CD163, AE1AE3, CAM5.2, EMA, CD30, receptores de progestágenos, proteína S100, y desmina, con bordes negativos.

Superficial CD34 (CD34) antigen positive fibroblastic soft-tissue tumor is a rare, lowfrequency tumor, characterized histologically by marked pleomorphism, low mitotic activity, and diffuse immunoreactivity for CD34. It may behave like a mesenchymal tumor of intermediate malignancy. There are only 52 cases published in the literature. We present the case of a 31-year-old patient with a long progressive and painful growth of a soft-tissue lesion in the left inguinal region. The mass was biopsied and, with the suspicion of a superficial CD34-positive fibroblast tumor, it was subsequently treated with an enlarged resection of the lesion and covering the skin defect with a local V-Y advancement flap, with a satisfactory evolution in the postoperative follow-up. The pathology report confirmed the diagnostic suspicion of a tumor with strong reactivity for CD34, with P53 protein in 60% to 70%, Ki67 antigen in less than 15%, without loss of INI-1, and with negativity for CD31, CD163, AE1AE3, CAM5.2, EMA, CD30, progestin receptors, S100 protein and desmin, with negative borders.

Immunohistochemical Markers in the Differential Diagnosis of Melanoma and Nevus in Humans

SUMMARY: Immunohistochemistry allows in situ detection of cell and extracellular components through specific antibodies. The objective was to compare the immunohistochemical expression patterns of the S-100, HMB-45 and MART-1 proteins for differential diagnosis of malignant melanoma and melanocytic nevus in human skin biopsies. Thirty-nine biopsies of human tissue were used. They were divided into two groups: 19 in malignant melanoma and 20 in melanocytic nevi. Next, the samples were fixed with paraformaldehyde and processed following the protocol for inclusion. Then, immunohistochemical staining was performed. Finally, the histological and qualitative analysis of the samples was carried out. S-100, HMB-45, and MART-1 markers showed positive immunoreaction in melanoma biopsies. HMB-45 marker was generally present with weaker expression than S-100 and MART-1 in melanocytic nevus biopsies. No expression pattern was observed which specifically associates one or more markers with some types of histopathological diagnosis. Immunohistochemistry is fundamental in differential diagnosis of melanomas and melanocytic nevi. However, there is no antibody or set of antibodies which allows unequivocal diagnosis between melanoma and nevus. It is therefore necessary to analyze with care the expression pattern and location of the lesion using standard morphological characteristics.

RESUMEN: La inmunohistoquímica permite la detección in situ de componentes celulares y extracelulares a través de anticuerpos específicos. El objetivo de nuestro estudio fue comparar los patrones de expresión inmunohistoquímica de las proteínas S-100, HMB-45 y MART-1 para el diagnóstico diferencial de melanoma maligno y nevo melanocítico en biopsias de piel humana. Se utilizaron treinta y nueve biopsias de tejido humano, las que fueron divididas en dos grupos: 19 en melanoma maligno y 20 en nevos melanocíticos. A continuación, las muestras se fijaron con paraformaldehído y se procesaron siguiendo el protocolo convencional para su inclusión. Luego, se realizó la tinción inmunohistoquímica. Finalmente, se realizó el análisis histológico y cualitativo de las muestras. Los marcadores S-100, HMB- 45 y MART-1 mostraron inmunorreacción positiva en biopsias de melanoma. El marcador HMB-45 estuvo generalmente presente con una expresión más débil que S-100 y MART-1 en biopsias de nevo melanocítico. No se observó ningún patrón de expresión que asocie específicamente uno o más marcadores con algunos tipos de diagnóstico histopatológico. La inmunohistoquímica es fundamental en el diagnóstico diferencial de melanomas y nevos melanocíticos. Sin embargo, no existe ningún anticuerpo o panel de anticuerpos que permita un diagnóstico inequívoco entre el melanoma y el nevo. Por tanto, es necesario analizar con cuidado el patrón de expresión y la localización de la lesión utilizando características morfológicas estándar.

Fibrohistiocitoma maligno de face: uma apresentação rara / Malignant fibrohistiocytoma of face: a rare presentation

Contexto: O fibrohistiocitoma maligno é um sarcoma de tecidos moles muito agressivo, com rara apresentação limitada à pele e tecido subcutâneo em face. O diagnóstico é anatomopatológico com auxílio da imuno-histoquímica. Descrição do caso: Este artigo relata o caso de um paciente com diagnóstico de fibrohistiocitoma maligno restrito à face com boa resposta terapêutica após exérese cirúrgica. Discussão: Tendo em vista a raridade dessa afecção, dificuldade diagnóstica devido ao quadro inespecífico e com rápida evolução, é importante lembrar desse possível diagnóstico e atuar precocemente. Conclusões: O diagnóstico precoce interfere de forma significativa na evolução do quadro, sendo necessária a manutenção do acompanhamento oncológico e dermatológico com o intuito de detectar precocemente recidivas locais e metástases a distância.

Recidiva intestinal única de melanoma cutáneo maligno: reporte de un caso / Intestinal relapse of a cutaneous melanoma: report of one case

Digestive tract primary melanoma is uncommon. However, metastatic lesions are more frequent and occur mainly in the small intestine. We report a 69-year-old male patient who consulted for a hyperpigmented skin lesion on the left thigh associated with multiple subcutaneous nodules. The biopsy was compatible with melanoma and PET/CT was positive for metastases in nodules and in an inguinal lymph node. Radiotherapy and chemotherapy with pembrolizumab were performed with good response, associated with posterior resection of the inguinal lymph node and melanocytic lesions. At three years of follow-up, a new hypermetabolic focus in the proximal jejunum was found in a control PET/CT. An endoscopic biopsy confirmed that it was a recurrence of the melanoma. Laparoscopic resection with primary anastomosis was performed with good clinical evolution. The definitive biopsy showed a melanoma metastasis with two of three lymph nodes positive for metastasis and a non-mutated BRAF gene. In conclusion, a single intestinal recurrence of melanoma is rare and requires an active search, since it can be resected using minimally invasive techniques.

Better outcome for parotid versus neck metastasis of head and neck cutaneous squamous cell carcinoma: a new report on reemerging data / Melhor desfecho para metástase da parótida vs. cervical de carcinoma espinocelular cutâneo de cabeça e pescoço: um novo informe sobre dados reemergentes

Abstract Introduction Regional metastases of cutaneous head and neck squamous cell carcinoma occur in approximately 5 % of cases, being the most important prognostic factor in survival, currently with no distinction between parotid and neck metastasis. Objective The purpose of this study was to evaluate the prognostic features among patients with head and neck cutaneous squamous cell carcinoma exhibiting regional metastasis. Methods A retrospective analysis of patients with cutaneous squamous cell carcinoma who underwent parotidectomy and/or neck dissection from 2011 to 2018 at a single institution tertiary center was performed. Patient demographics, clinical, surgical and pathological information, adjuvant treatments, and outcome at last follow-up were collected. Outcomes included disease recurrence and death due to the disease. Prognostic value of clinic pathological features associated with disease-specific survival was obtained. Results Thirty-eight cases of head and neck cutaneous squamous cell carcinoma with parotid and/or neck metastasis were identified. Overall, 18 (47.3 %) patients showed parotid metastasis alone, 12 (31.5 %) exhibited neck metastasis alone and 8 (21.0 %) had both. A primary tumor in the parotid zone (Hazard Ratio ‒ HR = 5.53; p = 0.02) was associated with improved disease-specific survival. Poorer disease-specific survival was observed in patients with higher primary tumor diameter (HR = 1.54; p = 0.002), higher depth of invasion (HR = 2.89; p = 0.02), invasion beyond the subcutaneous fat (HR = 5.05; p = 0.002), neck metastasis at first presentation (HR = 8.74; p < 0.001), number of positive lymph nodes (HR = 1.25; p = 0.004), and higher TNM stages (HR = 7.13; p = 0.009). Patients presenting with isolated parotid metastasis during all follow-ups had better disease-specific survival than those with neck metastasis or both (HR = 3.12; p = 0.02). Conclusion Head and neck cutaneous squamous cell carcinoma with parotid lymph node metastasis demonstrated better outcomes than cases with neck metastasis.

Resumo Introdução As metástases regionais do carcinoma espinocelular cutâneo de cabeça e pescoço ocorrem em aproximadamente 5% dos casos, sendo esse o fator prognóstico mais importante na sobrevida, atualmente sem distinção entre metástases de parótida e cervicais. Objetivo Avaliar as características prognósticas em pacientes com carcinoma espinocelular cutâneo de cabeça e pescoço com metástase regional. Método Foi feita uma análise retrospectiva de pacientes com carcinoma espinocelular cutâneo submetidos à parotidectomia e/ou esvaziamento cervical entre 2011 e 2018 em um único centro terciário de uma única instituição. Dados demográficos dos pacientes, informações clínicas, cirúrgicas e patológicas, tratamentos adjuvantes e desfechos no último acompanhamento foram coletados. Os desfechos incluíram recorrência e morte devido à doença. O valor prognóstico das características clínico-patológicas associadas à sobrevida específica da doença foi obtido. Resultados Foram identificados 38 casos de carcinoma espinocelular cutâneo de cabeça e pescoço com metástase de parótida e/ou pescoço. No geral, 18 (47,3%) pacientes apresentaram metástase da parótida isolada, 12 (31,5%) apresentaram metástase cervical isolada e 8 (21,0%) apresentaram ambos. Um tumor primário na região da parótida (Hazard ratio [HR] = 5,53; p = 0,02) foi associado a melhor sobrevida específica. Pior sobrevida específica foi observada em pacientes com maior diâmetro do tumor primário (HR = 1,54; p = 0,002), maior profundidade de invasão (HR = 2,89; p = 0,02), invasão além da gordura subcutânea (HR = 5,05; p = 0,002), metástase cervical na primeira apresentação (HR = 8,74; p < 0,001), conforme maior número de linfonodos positivos (HR = 1,25; p = 0,004) e estágios TNM mais elevados (HR = 7,13; p = 0,009). Os pacientes que apresentaram metástase da parótida isolada durante todo o acompanhamento apresentaram melhor sobrevida específica do que aqueles com metástase cervical ou ambos (HR = 3,12; p = 0,02). Conclusão Os casos de carcinoma espinocelular cutâneo de cabeça e pescoço com metástase intraparotídea demonstraram melhores desfechos do que aqueles com metástase cervical.

Tumores cutáneos de colisión / Cutaneous collision tumors

Los tumores de colisión consisten en neoplasias compuestas por dos poblaciones celulares distintas que mantienen una clara diferenciación de sus bordes y que se encuentran adyacentes una de otra en la misma muestra histopatológica. Esta asociación puede corresponder a dos tumores malignos, dos benignos o uno maligno y uno benigno. Son infrecuentes y, en ocasiones, representan un desafío clínico para la detección correcta de ambas neoplasias. Se presenan los casos de tres pacientes con tumores cutáneos de colisión, de estirpe melanocítica combinada con queratinocítica; en dos de ellos ambas neoplasias fueron malignas y en uno, se asociaron una lesión maligna y una benigna.

Collision tumors consist of neoplasms composed of two different cell populations that maintain a clear differentiation of their borders, and that are adjacent to each other in the same histopathological sample. This association can correspond to two malignant tumors, two benign, or one malignant and one benign. They are infrequent and, at times, represent a clinical challenge for the correct detection of both neoplasms. Three cases of cutaneous collision tumors of a melanocytic line combined with a keratinocytic line are presented, two of them in which both neoplasms were malignant and one that associated a malignant and a benign lesion.