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1.
Rev Esp Patol ; 55(4): 278-281, 2022.
Artigo em Espanhol | MEDLINE | ID: mdl-36154737

RESUMO

Intestinal (tailgut) cysts or retrorectal cystic hamartomas are rare benign lesions that are included in the category of developmental cystic lesions. Their origin is still uncertain, although several hypotheses have been proposed to explain their development. They are located mainly in the presacral (retrorectal) space and predominately affect middle-aged women (40-60 years). Taking into account location and histological characteristics, the main differential diagnoses include epidermoid cysts, duplication cysts and teratomas. Malignant transformation of these lesions is rare and preferentially into adenocarcinoma and neuroendocrine tumors. We present a case of an intestinal cyst associated with a well-differentiated neuroendocrine tumor (G1) in a 63-year-old woman.


Assuntos
Adenocarcinoma , Cistos , Hamartoma , Tumores Neuroendócrinos , Adenocarcinoma/complicações , Adenocarcinoma/patologia , Cistos/complicações , Cistos/patologia , Diagnóstico Diferencial , Feminino , Hamartoma/patologia , Humanos , Pessoa de Meia-Idade , Tumores Neuroendócrinos/complicações , Tumores Neuroendócrinos/diagnóstico
2.
Rev Esp Patol ; 54(3): 193-196, 2021.
Artigo em Espanhol | MEDLINE | ID: mdl-34175032

RESUMO

Hereditary leiomyomatosis (HL) is a rare autosomal dominant syndrome resulting from a mutation in the germline of the fumarate hydratase (FH) gene. Patients with this syndrome have an increased risk of cutaneous and uterine smooth muscle tumors as well as renal cancer. Renal carcinoma associated with hereditary leiomyomatosis (HLRCC) was recognized as a subtype of independent renal tumor in the 2016 WHO classification. We present a case of HLRCC occurring in a 39-year-old man with no family history or specific skin manifestations at the time of diagnosis.


Assuntos
Carcinoma de Células Renais/patologia , Neoplasias Renais/patologia , Leiomiomatose/patologia , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Cutâneas/patologia , Neoplasias Uterinas/patologia , Adulto , Carcinoma de Células Renais/química , Carcinoma de Células Renais/genética , Humanos , Neoplasias Renais/química , Neoplasias Renais/genética , Leiomiomatose/química , Leiomiomatose/genética , Masculino , Síndromes Neoplásicas Hereditárias/genética , Neoplasias Cutâneas/química , Neoplasias Cutâneas/genética , Neoplasias Uterinas/química , Neoplasias Uterinas/genética
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