RESUMEN
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)
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Tumores Neuroendocrinos , Neoplasias Abdominales , Quiste Mesentérico , Diagnóstico Diferencial , Pacientes Internos , Examen Físico , Adenocarcinoma , Quistes/complicaciones , Patología , Servicio de Patología en Hospital , Neoplasias , Síndrome de Hamartoma MúltipleRESUMEN
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.
Asunto(s)
Adenoma , Neoplasias Gastrointestinales , Neoplasias de las Glándulas Sudoríparas , Adenomas Tubulares de las Glándulas Sudoríparas , Adenoma/genética , Adenoma/patología , Humanos , Mutación , Proteínas Proto-Oncogénicas B-raf/genética , Neoplasias de las Glándulas Sudoríparas/genética , Neoplasias de las Glándulas Sudoríparas/patología , Adenomas Tubulares de las Glándulas Sudoríparas/genética , Adenomas Tubulares de las Glándulas Sudoríparas/patologíaRESUMEN
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.
Asunto(s)
Adenocarcinoma , Quistes , Hamartoma , Tumores Neuroendocrinos , Adenocarcinoma/complicaciones , Adenocarcinoma/patología , Quistes/complicaciones , Quistes/patología , Diagnóstico Diferencial , Femenino , Hamartoma/patología , Humanos , Persona de Mediana Edad , Tumores Neuroendocrinos/complicaciones , Tumores Neuroendocrinos/diagnósticoRESUMEN
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.