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2.
Clin Imaging ; 39(4): 714-6, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25770905

RESUMO

We describe the peculiar enhancement pattern of a subepithelial colonic glomus tumour on dynamic contrast-enhanced computed tomography. Discontinuous, peripheral nodular enhancement of the colonic lesion followed by subsequent centripetal filling-in of contrast was reminiscent of a hepatic haemangioma, which has not been described with a glomus or any other subepithelial tumour of the colon. When encountered, this tumour enhancement pattern raises the possibility of a colonic glomus tumour prior to histological confirmation.


Assuntos
Neoplasias do Colo/diagnóstico por imagem , Tumor Glômico/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Idoso , Neoplasias do Colo/cirurgia , Tumor Glômico/cirurgia , Humanos , Masculino , Resultado do Tratamento
3.
Am J Surg Pathol ; 38(9): 1173-81, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25025451

RESUMO

Women with Lynch syndrome (LS) are at increased risk for the development of epithelial ovarian cancer (OC). Analogous to previous studies on BRCA1/2 mutation carriers, there is evidence to suggest a histotype-specific association in LS-associated OCs (LS-OC). Whereas the diagnosis of high-grade serous carcinoma is an indication for BRCA1/2 germline testing, in contrast, there are no screening guidelines in place for triaging OC patients for LS testing based on histotype. We performed a centralized pathology review of tumor subtype on 20 germline mutation-confirmed LS-OCs, on the basis of morphologic assessment of hematoxylin and eosin-stained slides, with confirmation by immunohistochemistry when necessary. Results from mismatch-repair immunohistochemistry (MMR-IHC) and microsatellite instability (MSI) phenotype status were documented, and detailed pedigrees were analyzed to determine whether previously proposed clinical criteria would have selected these patients for genetic testing. Review of pathology revealed all LS-OCs to be either pure endometrioid carcinoma (14 cases), mixed carcinoma with an endometrioid component (4 cases), or clear cell carcinoma (2 cases). No high-grade or low-grade serous carcinomas or mucinous carcinomas of intestinal type were identified. Tumor-infiltrating lymphocytes were prominent (≥40 per 10 high-powered fields) in 2 cases only. With the exception of 1 case, all tumors tested for MMR-IHC or MSI had an MMR-deficient phenotype. Within this cohort, 50%, 55%, 65%, and 85% of patients would have been selected for genetic workup by Amsterdam II, revised Bethesda Guidelines, SGO 10% to 25%, and SGO 5% to 10% criteria, respectively, with <60% of index or sentinel cases detected by any of these schemas. To further support a subtype-driven screening strategy, MMR-IHC reflex testing was performed on all consecutive non-serous OCs diagnosed at 1 academic hospital over a 2-year period; MMR deficiency was identified in 10/48 (21%) cases, all with endometrioid or clear cell histology. We conclude that there is a strong association between endometrioid and clear cell ovarian carcinomas and hereditary predisposition due to MMR gene mutation. These findings have implications for the role of tumor subtype in screening patients with OC for further genetic testing and support reflex MMR-IHC and/or MSI testing for newly diagnosed cases of endometrioid or clear cell ovarian carcinoma.


Assuntos
Carcinoma Endometrioide/patologia , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Detecção Precoce de Câncer/métodos , Neoplasias Ovarianas/patologia , Adulto , Idoso , Proteína BRCA1/genética , Proteína BRCA2/genética , Biópsia , Canadá , Carcinoma Endometrioide/química , Carcinoma Endometrioide/classificação , Carcinoma Endometrioide/genética , Neoplasias Colorretais Hereditárias sem Polipose/química , Neoplasias Colorretais Hereditárias sem Polipose/classificação , Neoplasias Colorretais Hereditárias sem Polipose/genética , Reparo de Erro de Pareamento de DNA , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Testes Genéticos , Mutação em Linhagem Germinativa , Hereditariedade , Humanos , Imuno-Histoquímica , Linfócitos do Interstício Tumoral/patologia , Instabilidade de Microssatélites , Pessoa de Meia-Idade , Gradação de Tumores , Neoplasias Ovarianas/química , Neoplasias Ovarianas/classificação , Neoplasias Ovarianas/genética , Linhagem , Fenótipo , Valor Preditivo dos Testes , Sistema de Registros
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