ABSTRACT
Los quistes intestinales (tailgut cyst), o hamartomas quísticos retrorrectales, son lesiones benignas raras que se incluyen en la categoría de lesiones quísticas del desarrollo. Aunque existen varias hipótesis con respecto a su desarrollo, actualmente sigue sin conocerse con certeza su origen. Se localizan principalmente en el espacio presacro (retrorrectal) y afectan fundamentalmente a mujeres de edad media (40-60 años).Teniendo en cuenta su localización y características histológicas, los principales diagnósticos diferenciales incluyen quistes epidermoides, quistes de duplicación y teratomas.La transformación maligna de estas lesiones es rara, la mayoría en forma de adenocarcinoma y tumores neuroendocrinos.Nosotros presentamos un caso de un quiste intestinal asociado a tumor neuroendocrino bien diferenciado (G1) en una mujer de 63 años.(AU)
ntestinal (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.(AU)
Subject(s)
Humans , Female , Middle Aged , Neuroendocrine Tumors , Abdominal Neoplasms , Mesenteric Cyst , Diagnosis, Differential , Inpatients , Physical Examination , Adenocarcinoma , Cysts/complications , Pathology , Pathology Department, Hospital , Neoplasms , Hamartoma Syndrome, MultipleABSTRACT
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.
Subject(s)
Adenoma , Gastrointestinal Neoplasms , Sweat Gland Neoplasms , Tubular Sweat Gland Adenomas , Adenoma/genetics , Adenoma/pathology , Humans , Mutation , Proto-Oncogene Proteins B-raf/genetics , Sweat Gland Neoplasms/genetics , Sweat Gland Neoplasms/pathology , Tubular Sweat Gland Adenomas/genetics , Tubular Sweat Gland Adenomas/pathologyABSTRACT
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.
