RESUMO
BACKGROUND: Staging systems for cutaneous squamous cell carcinoma (cSCC) produce inconsistent risk stratification. OBJECTIVE: The aim of this study was to identify further prognostic parameters for better stratification. METHODS: We retrospectively analysed the prognostic significance of clinicopathologic parameters of 230 patients who underwent primary excision of invasive cSCC of the head and neck (n = 115) and non-head and non-neck (n = 115) locations. In addition to known high-risk features, we analysed tumour nest shape, invasion pattern, lymphoid response pattern and tumour budding. RESULTS: On multivariable analysis, lymphovascular invasion (LVI) and high tumour budding predicted worse disease-specific survival, and ulceration, LVI and high tumour budding predicted worse overall survival. Only ulceration was independently associated with risk of nodal metastasis. CONCLUSION: High tumour budding, LVI and ulceration are independently associated with poor outcome in cSCC and may be used to refine cSCC prognostic stratification, which is crucial to optimize clinical decision and to identify patients who are more likely to benefit from more aggressive interventions or clinical trials.
Assuntos
Carcinoma de Células Escamosas , Neoplasias de Cabeça e Pescoço , Neoplasias Cutâneas , Carcinoma de Células Escamosas/patologia , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Estadiamento de Neoplasias , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Neoplasias Cutâneas/patologia , Carcinoma de Células Escamosas de Cabeça e PescoçoRESUMO
Spitzoid neoplasms pose diagnostic difficulties because their morphology is not consistently predictive of their biological potential. Recent advances in the molecular characterization of these tumours provides a framework by which they can now begin to be categorized. In particular, spitzoid lesions with ALK rearrangement have been specifically associated with a characteristic plexiform growth pattern of intersecting fascicles of amelanotic spindled melanocytes. We report the case of an 87-year-old man with a 3-cm nodule on his mid-upper back comprised of an intradermal proliferation of fusiform amelanotic melanocytes arranged in intersecting fascicles with occasional peritumoral clefts. Immunohistochemical studies demonstrated diffuse, strong expression of SOX10 and S100 by the tumour cells and diffuse, weak-to-moderate cytoplasmic positivity for anaplastic lymphoma kinase (ALK), suggestive of ALK rearrangement. Fluorescence in situ hybridization revealed no ALK rearrangements but instead revealed at least three intact ALK signals in 36% of the tumour cells, confirming ALK copy number gain. To our knowledge, this is the first reported case of a plexiform spitzoid neoplasm exhibiting ALK copy number gain instead of ALK rearrangement. This case suggests that ALK copy number gain is a novel mechanism of ALK activation but with the same characteristic histopathological growth pattern seen among ALK-rearranged spitzoid neoplasms.
Assuntos
Quinase do Linfoma Anaplásico/genética , Variações do Número de Cópias de DNA , Nevo de Células Epitelioides e Fusiformes/genética , Neoplasias Cutâneas/genética , Idoso de 80 Anos ou mais , Dorso , Humanos , Hibridização in Situ Fluorescente , Masculino , Nevo de Células Epitelioides e Fusiformes/patologia , Pele/patologia , Neoplasias Cutâneas/patologiaRESUMO
T-cell large granular lymphocytic leukaemia (T-LGLL) is a clinically indolent mature T-cell neoplasm characterized by a monoclonal population of CD3+ CD8+ cytotoxic T cells, which usually presents as neutropenia, anaemia and thrombocytopenia. Chronic myelomonocytic leukaemia (CMML) is a clonal haematopoietic disorder with features of both a myeloproliferative neoplasm and myelodysplastic syndrome (MDS). Patients with CMML exhibit a persistent peripheral blood monocytosis in addition to myelodysplastic features. Because of the rarity of T-LGLL, its cutaneous manifestations are poorly documented, but include vasculitis, vasculopathy, persistent ulcerations, generalized pruritus and disseminated granuloma annulare. Various types of skin lesions have been observed in patients with CMML and reportedly occur in approximately 10% of cases. We report the extraordinary case of a patient with MDS who developed T-LGLL, and subsequently the MDS progressed to CMML. The patient then developed diffuse arthropod bite-like papules and intractable pruritus.
Assuntos
Leucemia Linfocítica Granular Grande/patologia , Leucemia Mielomonocítica Crônica/patologia , Síndromes Mielodisplásicas/patologia , Prurido/patologia , Idoso , Feminino , HumanosRESUMO
Melanoma remains one of the most aggressive forms of cutaneous malignancies. While its diagnosis based on histologic parameters is usually straight forward in most cases, distinguishing a melanoma from a melanocytic nevus can be challenging in some instances, especially when there are overlapping clinical and histopathologic features. Occasionally, melanomas can histologically mimic other tumors and even demonstration of melanocytic origin can be challenging. Thus, several ancillary tests may be employed to arrive at the correct diagnosis. The objective of this review is to summarize these tests, including the well-established and commonly used ones such as immunohistochemistry, with specific emphasis on emerging techniques such as comparative genomic hybridization, fluorescence in situ hybridization and imaging mass spectrometry.
Assuntos
Biomarcadores Tumorais/análise , Hibridização Genômica Comparativa , Dermatologia/métodos , Hibridização in Situ Fluorescente , Espectrometria de Massas , Melanoma/diagnóstico , Nevo Pigmentado/diagnóstico , Neoplasias Cutâneas/diagnóstico , Antígenos de Neoplasias/análise , Antígenos de Neoplasias/genética , Biomarcadores Tumorais/genética , Diferenciação Celular , Humanos , Imuno-Histoquímica , Melanócitos/química , Melanócitos/patologia , Melanoma/química , Melanoma/genética , Melanoma/patologia , Proteínas de Neoplasias/análise , Proteínas de Neoplasias/genética , Nevo Pigmentado/química , Nevo Pigmentado/genética , Nevo Pigmentado/patologia , Prognóstico , Neoplasias Cutâneas/química , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Coloração e RotulagemAssuntos
Alopecia em Áreas/etiologia , Transplante de Medula Óssea/efeitos adversos , Transplante de Medula Óssea/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Irmãos , Doadores de Tecidos , Condicionamento Pré-Transplante/efeitos adversos , Condicionamento Pré-Transplante/métodosRESUMO
Metanephric neoplasms are uncommon renal tumors that arise in both children and adults. They may be composed of small epithelial cells or benign stroma, or both, and are termed metanephric adenoma, metanephric stromal tumor, or metanephric adenofibroma, respectively. Thus far, these tumors have been known for their benign behavior. We present the case of a 21-year-old woman who developed a neoplasm composed of a renal epithelial component identical to metanephric adenoma combined with a malignant spindle cell sarcoma. The epithelial component was positive for pankeratin AE1/3, whereas the sarcomatous component was negative for epithelial markers and positive for vimentin, CD34, and CD117. No smooth muscle differentiation was apparent in the sarcoma by immunohistochemistry or ultrastructural analysis. By fluorescent in situ hybridization analysis of the sarcomatous component there was monosomy of the X chromosome, but no apparent variation from the normal diploid pattern for chromosomes 3, 7, 12, and 17. We conclude that the spectrum of metanephric neoplasia should be expanded to include malignant stromal variants, and we propose the term "metanephric adenosarcoma" for the present case.
Assuntos
Adenossarcoma/secundário , Neoplasias Renais/patologia , Sarcoma/secundário , Adenossarcoma/química , Adenossarcoma/terapia , Adulto , Antígenos de Neoplasias/análise , Biomarcadores Tumorais/análise , Terapia Combinada , DNA de Neoplasias/análise , Evolução Fatal , Feminino , Humanos , Imunofenotipagem , Hibridização in Situ Fluorescente , Neoplasias Renais/química , Neoplasias Renais/terapia , Sarcoma/química , Sarcoma/genética , Sarcoma/terapia , Cromossomo XAssuntos
Queratinócitos/metabolismo , Receptores do Hormônio Hipofisário/metabolismo , Sequência de Bases , Linhagem Celular , Primers do DNA , Replicação do DNA/efeitos dos fármacos , Humanos , Imuno-Histoquímica , Receptores do Hormônio Hipofisário/fisiologia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , alfa-MSH/farmacologiaRESUMO
Cellular angiofibroma (CAF) is a recently described rare soft tissue neoplasm of the vulva (with only four reported cases) that typically occurs as a well-circumscribed solid rubbery vulvar mass in middle-aged women. The distinct histologic features of bland spindle cells admixed with numerous hyalinized medium to small blood vessels, and a vimentin-positive desmin-negative immunoprofile differentiates this neoplasm from other vulvar tumors such as angiomyofibroblastoma and aggressive angiomyxoma. In this report an additional case of CAF is presented with DNA ploidy analysis and CD99 immunohistochemistry.