MEN1 Syndrome and Hibernoma: An Uncommonly Recognised Association?
نویسندگان
چکیده
MEN1 syndrome is known to classically result in parathyroid, pituitary, and pancreatic islet cell tumours. However, the potential association of MEN1 syndrome with hibernoma, a benign tumour with differentiation towards brown fat, is far less well known, despite their genetic profile both being linked to deletion of the MEN1 gene. Herein, we describe a case with its key radiological and pathological findings.
منابع مشابه
Concomitant deletions of tumor suppressor genes MEN1 and AIP are essential for the pathogenesis of the brown fat tumor hibernoma.
Hibernomas are benign tumors with morphological features resembling brown fat. They consistently display cytogenetic rearrangements, typically translocations, involving chromosome band 11q13. Here we demonstrate that these aberrations are associated with concomitant deletions of AIP and MEN1, tumor suppressor genes that are located 3 Mb apart and that underlie the hereditary syndromes pituitary...
متن کاملLaryngeal hibernoma: case series of a rare tumor.
BACKGROUND Hibernomas are rare, benign tumors of brown adipose tissue uncommonly found in the head and neck. METHODS A review of the English-language literature was conducted for this study. We present a series of 2 laryngeal hibernomas treated with transoral laser microsurgical resection at a tertiary referral center over a period of 18 years. RESULTS Only 2 cases of laryngeal hibernoma ha...
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Inactivating mutations of the multiple endocrine neoplasia 1 (MEN1) gene cause MEN1 syndrome, characterized by primary hyperparathyroidism (pHPT), and parathyroid and gastro-entero-pancreatic pituitary tumors. At present, only 14 cases of malignant parathyroid tumor have been associated with the syndrome, with 6 cases carrying an inactivating mutation of the MEN1 gene. The present study present...
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Neuroendocrine tumor (NET) occurring in association with other endocrine syndromes forms a distinct entity. The aim was to assess the therapy response profile of the routine peptide receptor radionuclide therapy (PRRT) in this relatively uncommon but clinically challenging subgroup of patients. A retrospective analysis was undertaken from the case records from those who were treated with 177Lu-...
متن کاملMenin associates with FANCD2, a protein involved in repair of DNA damage.
Multiple endocrine neoplasia type I (MEN1) is an inherited tumor syndrome characterized by tumors in multiple endocrine organs including the parathyroids, pancreatic islets, and the pituitary. The gene mutated in MEN1 patients, Men1, encodes a protein of 610 amino acid residues, menin, and mutations in the Men1 gene lead to the MEN1 syndrome. Although the chromosomal instability in the peripher...
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ورودعنوان ژورنال:
دوره 2014 شماره
صفحات -
تاریخ انتشار 2014