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.
Subject(s)
Adenocarcinoma , Cysts , Hamartoma , Neuroendocrine Tumors , Adenocarcinoma/complications , Adenocarcinoma/pathology , Cysts/complications , Cysts/pathology , Diagnosis, Differential , Female , Hamartoma/pathology , Humans , Middle Aged , Neuroendocrine Tumors/complications , Neuroendocrine Tumors/diagnosisABSTRACT
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.
Subject(s)
Carcinoma, Renal Cell/pathology , Kidney Neoplasms/pathology , Leiomyomatosis/pathology , Neoplastic Syndromes, Hereditary/pathology , Skin Neoplasms/pathology , Uterine Neoplasms/pathology , Adult , Carcinoma, Renal Cell/chemistry , Carcinoma, Renal Cell/genetics , Humans , Kidney Neoplasms/chemistry , Kidney Neoplasms/genetics , Leiomyomatosis/chemistry , Leiomyomatosis/genetics , Male , Neoplastic Syndromes, Hereditary/genetics , Skin Neoplasms/chemistry , Skin Neoplasms/genetics , Uterine Neoplasms/chemistry , Uterine Neoplasms/geneticsABSTRACT
Los carcinomas renales asociados a translocación de factores de transcripción de la familia MiT/TFE incluyen, según la última clasificación de la Organización Mundial de la Salud, carcinomas con translocación Xp11 que involucran al gen TFE3 y carcinomas con translocación t(6;11)(p21;q12) que afectan al gen TFEB. Cada uno de estos subtipos presenta características clinicopatológicas y moleculares bien definidas. Actualmente, con el desarrollo de las técnicas moleculares se han descrito neoplasias con sustento molecular en estos mismos genes, pero con alteraciones distintas a la translocación. En este sentido, recientemente se han publicado carcinomas renales asociados a amplificación de TFEB que presentan diferencias pronósticas a los casos asociados a translocación y que podrían, por tanto, constituir una nueva entidad. Nosotros presentamos un caso de carcinoma renal asociado a amplificación de TFEB, describimos sus características clinicopatológicas y hacemos una revisión actualizada sobre estas neoplasias
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
Subject(s)
Humans , Male , Adult , Carcinoma, Renal Cell/pathology , Kidney Neoplasms/pathology , Gene Amplification , Transcription Factors , Neoplasm Metastasis/pathology , Nephrectomy , Histological Techniques/methodsABSTRACT
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.