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/diagnósticoRESUMO
Syringocystadenoma papilliferum (SCAP), tubular adenoma (TA) and hydrocystoma (HC) are benign adnexal tumors. Recently it has been suggested that these lesions belong to the same morphological spectrum: Tubulopapillary cystic adenoma with apocrine differentiation (TPCAa). BRAF and K-Ras (KRAS) mutations have been described in SCAP and TA, but not in HC. Moreover, verrucous epithelial proliferations have been observed in TPCAa. We present a case of TPCAa with BRAF V600E mutation and BRAF VE1 immunohistochemical expression in the SCAP, AT, HC and verrucous hyperplasia components.
Assuntos
Adenoma , Neoplasias Gastrointestinais , Neoplasias das Glândulas Sudoríparas , Adenomas Tubulares de Glândulas Sudoríparas , Adenoma/genética , Adenoma/patologia , Humanos , Mutação , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias das Glândulas Sudoríparas/genética , Neoplasias das Glândulas Sudoríparas/patologia , Adenomas Tubulares de Glândulas Sudoríparas/genética , Adenomas Tubulares de Glândulas Sudoríparas/patologiaRESUMO
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/genéticaRESUMO
Renal carcinomas associated with translocation of transcription factors of the MiT/TFE family include, according to the latest World Health Organization classification, carcinomas with Xp11 translocation that involve the TFE3 gene and those with translocation t(6;11)(p21;q12) that affect the TFEB gene. Each one of these sub-types have well-defined clinicopathological and molecular characteristics. Currently, progress in molecular techniques has led to the description of neoplasms with molecular changes in these same genes but with alterations different to translocation. Thus, recently, cases have been published of TFEB-amplified renal carcinomas with prognoses that vary from cases associated with translocation and could therefore represent a new entity. We present a case of TFEB-amplified renal carcinoma with a full description of the clinicopathological characteristics and an updated revision of these neoplasms.