Humans ; Multiple Endocrine Neoplasia Type 2b

Multiple endocrine neoplasia (MEN) is defined as a disorder with neoplasms in two or more different hormonal tissues in several members of a family. MEN1, or Wermer's syndrome, is inherited as an autosomal dominant trait. This syndrome is characterized by neoplasia of the parathyroid glands, enteropancreatic tumors, anterior pituitary adenomas, and other neuroendocrine tumors with variable penetrance. Inherited medullary thyroid carcinoma (MTC) consists of MEN2A, MEN2B, and familial medullary thyroid cancer (FMTC). The identification of hereditary MTC has been facilitated in recent years by direct analysis of germline RET proto-oncogene mutation.
Carcinoma, Medullary ; Humans ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 1 ; Multiple Endocrine Neoplasia Type 2a ; Multiple Endocrine Neoplasia Type 2b ; Neuroendocrine Tumors ; Parathyroid Glands ; Penetrance ; Pituitary Neoplasms ; Proto-Oncogenes ; Thyroid Gland ; Thyroid Neoplasms

OBJECTIVETo investigate the clinicopathological features of multiple mucosal neuromas without multiple endocrine neoplasia type IIB (non-MEN-IIB MMN).

METHODSThree cases of non-MEN-IIB MMNs were analyzed for the clinical manifestations and histopathological characteristics.

RESULTSAll the 3 cases were females, age ranging from 30 to 45 years. Two cases of them involved in the laryngopharyngeal mucosa and another one located in the left margin of the tongue. Clinically, non-MEN-IIB MMNs presented with uncertain foreign body sensation, itching, vomiting and causalgia in the laryngopharyngeal areas. Mucosal papular lesions were treated by laser ablation or local surgical excision. The cases were respectively followed up for 6 to 20 months and found nothing. Histological examination showed the lesions were not encapsulated and contained irregular tortuous nerve bundles with undefined perineurium in the lamina propria. There were no nuclear palisade. Immunophenotype showed tumor cells strongly positive for vimentin, S-100, myelin specific enolase, CD56, neurofilament and neuron specific enolase, uniformly negative to CD34, CD117 and epithelial membrane antigen.

CONCLUSIONSNon-MEN-IIB MMN is a very rare disease and the possibility of MEN-IIB should be excluded before making diagnosis. The lesions located in the mucosal tissue with polyp-like or papular appearance, so they should be differentiated from other neoplasms or non-neoplastic lesions.

Aged ; Female ; Humans ; Laryngeal Neoplasms ; pathology ; Multiple Endocrine Neoplasia Type 2b ; Neuroma ; pathology ; Pharyngeal Neoplasms ; pathology

Gastrointestinal ganglioneuromatosis is an extremely rare lesion which typically occurs with a significant systemic syndrome. It is known to be a major component of multiple endocrine neoplasia, type 2b. We presented a case of polypoid ganglioneuromatosis of the colon in a 3-year-old female with abdominal pain and diarrhea. She had no clinical evidence of the systemic syndrome or von Recklinghausen's neurofibromatosis, conditions in which intestinal ganglioneuromatosis can occur. Gross examination showed diffuse polypoid masses in ascending and transverse colons with normal-appearing mucosa. Microscopic examination revealed a proliferation of spindle-shaped neuronal cells containing multiple clusters of mature ganglion cells in the mucosa, submucosa and proper muscle. We describe a case of colonic ganglioneuromatosis without any component of multiple endocrine neoplasia or family history.
Abdominal Pain ; Child ; Child, Preschool ; Colon* ; Colon, Transverse ; Diarrhea ; Female ; Ganglion Cysts ; Humans ; Mucous Membrane ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 2b ; Neurofibromatoses ; Neurons

Ganglioneuromas of the gastrointestinal tract are rare, but have an established association with genetic disorders, such as the multiple endocrine neoplasia (MEN) syndrome (type 2b) and neurofibromatosis (type 1). However, solitary ganglioneuromas are not associated with an increased risk for MEN 2b, neurofibromatosis type 1, or any other systemic conditions. Ganglioneuromas of the gastrointestinal tract have been reported to predominantly involve the colon and rectum, and are thereby occasionally detected during colonoscopy or surgery. Although there are no characteristic symptoms of solitary ganglioneuromas, symptoms can be induced by solitary ganglioneuromas, such as abdominal pain, bleeding, or obstruction, depending on the location and size. Herein we report a case of a solitary ganglioneuroma of the ileum. A 34-year-old man sought evaluation at our hospital for anemia. The medical and family histories were benign and there was no history of genetic disorders. The evaluation for anemia revealed iron-deficiency anemia and CT enterography revealed a single mass in the ileum. Laparoscopic resection of the lesion was performed and the pathologic examination confirmed an ileal ganglioneuroma.
Abdominal Pain ; Adult ; Anemia ; Anemia, Iron-Deficiency ; Colon ; Colonoscopy ; Ganglioneuroma ; Gastrointestinal Tract ; Hemorrhage ; Humans ; Ileum ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 2b ; Neurofibromatoses ; Neurofibromatosis 1 ; Rectum

Ganglioneuromas of the gastrointestinal tract are rare, but have an established association with genetic disorders, such as the multiple endocrine neoplasia (MEN) syndrome (type 2b) and neurofibromatosis (type 1). However, solitary ganglioneuromas are not associated with an increased risk for MEN 2b, neurofibromatosis type 1, or any other systemic conditions. Ganglioneuromas of the gastrointestinal tract have been reported to predominantly involve the colon and rectum, and are thereby occasionally detected during colonoscopy or surgery. Although there are no characteristic symptoms of solitary ganglioneuromas, symptoms can be induced by solitary ganglioneuromas, such as abdominal pain, bleeding, or obstruction, depending on the location and size. Herein we report a case of a solitary ganglioneuroma of the ileum. A 34-year-old man sought evaluation at our hospital for anemia. The medical and family histories were benign and there was no history of genetic disorders. The evaluation for anemia revealed iron-deficiency anemia and CT enterography revealed a single mass in the ileum. Laparoscopic resection of the lesion was performed and the pathologic examination confirmed an ileal ganglioneuroma.
Abdominal Pain ; Adult ; Anemia ; Anemia, Iron-Deficiency ; Colon ; Colonoscopy ; Ganglioneuroma ; Gastrointestinal Tract ; Hemorrhage ; Humans ; Ileum ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 2b ; Neurofibromatoses ; Neurofibromatosis 1 ; Rectum

Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal-dominant hereditary syndrome which includes medullary thyroid carcinoma (MTC), pheochoromocytoma, multiple ganglioneuromas, gastrointestinal disorders and marfanoid face. MTC is the main cause of death in patients that have not received early and prophylactic treatment. Clinically useful direct DNA tests have recently been available to identify gene carriers before any clinical or biochemical abnormalities are present. Prophylactic total thyroidectomy is recommended to affected children at an early stage of the disease to prevent the development of metastases of MTC. We report a case of MEN 2B patient who was diagnosed by RET proto-oncogene analysis and performed prophylactic total thyroidectomy.
Cause of Death ; Child ; DNA ; Ganglioneuroma ; Humans ; Multiple Endocrine Neoplasia Type 2b* ; Multiple Endocrine Neoplasia* ; Neoplasm Metastasis ; Proto-Oncogenes* ; Thyroid Neoplasms ; Thyroidectomy*

Medullary thyroid carcinoma (MTC) is a relatively rare malignant thyroid disease that accounts for approximately 1% to 5% of all thyroid carcinomas. MTC occurs as a sporadic disease and as an inherited disease with the multiple endocrine neoplasia type 2A (MEN2A), MEN2B, and familial non-MEN medullary carcinoma (FMTC). MEN2A is characterized by MTC, pheochromocytoma, and parathyroid adenoma. The mutation of RET proto-oncogene plays an important role in MEN2A syndromes. Recently the authors diagnosed MEN2A patient and screened his family with thyroid ultrasonogram and RET proto-oncogene analysis. A genetic analysis of the peripheral leukocyte showed a codon 618 mutation (Cys618Arg) at exon 10 of the RET proto-oncogene in a family presenting third generations from age 7 to age 56 years. We report this case of MEN2A with a review of the related literatures.
Carcinoma, Medullary ; Codon ; Exons ; Family Characteristics ; Humans ; Leukocytes ; Multiple Endocrine Neoplasia Type 2a* ; Multiple Endocrine Neoplasia Type 2b ; Multiple Endocrine Neoplasia* ; Parathyroid Neoplasms ; Pheochromocytoma ; Proto-Oncogenes* ; Thyroid Diseases ; Thyroid Gland ; Thyroid Neoplasms ; Ultrasonography

Multiple endocrine neoplasia-IIb (MEN-IIb) is a rare hereditary autosomal dominant syndrome caused by mutations in the RET proto-oncogene. It's characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), mucosal neuromas, and Marfanoid habitus. Because of the rarity of MEN-IIb and finiteness of clinical cognition, the majority of the patients suffer a delayed diagnosis. A MEN-IIb patient with the lingual mucosal neuromas since childhood was admitted in the Third Xiangya Hospital of Central South University in November, 2018. He had surgical history of mitral valve prolapse and spinal deformity. He was diagnosed with MTC and PHEO at the age of 22 and 28, respectively, and received surgical treatments. Sequencing of RET gene revealed a de novo heterozygous p.M918T mutation in the patient. Being aware of the unique clinical phenotype and screening of RET gene mutation may lead to the early diagnosis and better long-term outcome for MEN-IIb.
Adrenal Gland Neoplasms ; Child ; Genes ; Humans ; Male ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 2a/genetics* ; Multiple Endocrine Neoplasia Type 2b/genetics* ; Mutation ; Proto-Oncogene Proteins c-ret/genetics* ; Thyroid Neoplasms/genetics*