RESUMEN
Multiple endocrine neoplasia Type 2b is a rare syndrome caused by mutations in RET proto oncogene. It is a rare entity, which is found 1 in 30,000 people. We report a case of 35–year–old male patient who presented with 1 episode of syncope; had bumpy lips and mucosal neuromas over the tongue which on detailed biochemical and radiological investigations turned out to be MEN Type 2B syndrome
RESUMEN
Multiple endocrine neoplasia type 2B (MEN 2B) is a rare disease caused by germline mutations in the RET proto-oncogene and is transmitted in an autosomal dominant fashion. It is characterized by medullary thyroid carcinoma, pheochromocytoma and mucosal neuroma developing in the tongue, lip, intestinal tract, palate etc. Among these neoplasias, mucosal neuroma generally develops from early childhood. Therefore, early detection and proper treatment can minimize the disease course. Here we describe a 9-year-old male who presented with multiple verrucous papules and nodules on his lips, tongue and gingiva that were there since birth. Histologic findings of his lips and tongue showed well-defined nerve bundles and DNA analysis revealed a M918T mutation at codon 918 of the RET oncogene. He was diagnosed early as having MEN 2B according to his genetic and phenotypic features.
Asunto(s)
Niño , Humanos , Masculino , Codón , ADN , Diagnóstico Precoz , Mutación de Línea Germinal , Encía , Labio , Neoplasia Endocrina Múltiple , Neoplasia Endocrina Múltiple Tipo 2b , Neuroma , Oncogenes , Hueso Paladar , Parto , Feocromocitoma , Proto-Oncogenes , Enfermedades Raras , Neoplasias de la Tiroides , LenguaRESUMEN
A multiple endocrine neoplasia type 2B(MEN2B) is the most distinct and aggressive form of the MEN type 2 variants. We report a case of a 24-years-old woman with MEN2B. The patient had previously undergone a Duhamel's operation due to a megacolon at 6 years old, minor surgery to remove small tumors on the lip at 8 years old, and a bilateral osteotomy of the femur, due to coxa valga, at 15 years old. She underwent a total thyroidectomy and neck dissection, due to a growing thyroid nodule, despite thyroxine treatment, at 19 years old. The pathology revealed a medullary thyroid carcinoma. There was no history of MEN 2B in her family. She had prominent lips, multiple oral mucosal masses, and marfanoid habitus. During the subsequent follow-up, a positron emission tomogram was taken due to a persistently high level of serum calcitonin, despite repeated neck dissections, which revealed a mass in the right adrenal gland. Adrenomedullary function tests showed high levels of urinary catecholamine metabolites, and a genetic analysis of the peripheral leukocyte showed a codon 918 mutation (Met918Thr) at exon 16 of the RET proto-oncogene. The patient underwent a right adrenalectomy and the pathology revealed a pheoch-romocytoma.
Asunto(s)
Adolescente , Niño , Femenino , Humanos , Masculino , Adulto Joven , Glándulas Suprarrenales , Adrenalectomía , Calcitonina , Codón , Coxa Valga , Electrones , Exones , Fémur , Estudios de Seguimiento , Leucocitos , Labio , Megacolon , Neoplasia Endocrina Múltiple Tipo 2b , Neoplasia Endocrina Múltiple , Disección del Cuello , Osteotomía , Patología , Feocromocitoma , Proto-Oncogenes , Procedimientos Quirúrgicos Menores , Neoplasias de la Tiroides , Nódulo Tiroideo , Tiroidectomía , TiroxinaRESUMEN
Multiple endocrine neoplasi~a type 3 is a rare, heritable or sporadic, multiple neoplastic disorder that is charracterized by thyroid medullary careinoma, pheochromocytoma, multiple mucosal neuroma, and marfanoid habitus. The most important disorder of the syndrome is mucosal neuroma that is an early diagnostic sign of multiple endocrine neoplasia type 3. Early diagnosis of MEN type 3 determines prognosis of the disease. We present a case of multiple endocrine neoplasia type 3 of the sporadic pattern in a 27-year-old man who had typical medullary thyroid carcinoma, mucosal neuroma, marfanoid habitus, and megacolon.