MEN1 Syndrome and Hibernoma: An Uncommonly Recognised Association?

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MEN1 Syndrome and Hibernoma: An Uncommonly Recognised Association?

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 patholo...

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Histoplasmosis in India: truly uncommon or uncommonly recognised?

OBJECTIVES To study the clinical profile of patients with proven histoplasmosis who had presented to a tertiary care referral centre. METHODS We retrospectively analysed the medical records of 24 patients diagnosed to have histoplasmosis between January 2002 and April 2011. Histoplasmosis was diagnosed when compatible intracellular organisms were seen on biopsy and/or when Histoplasma capsula...

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Pituitary tumors in patients with MEN1 syndrome

We briefly review the characteristics of pituitary tumors associated with multiple endocrine neoplasia type 1. Multiple endocrine neoplasia type 1 is an autosomal-dominant disorder most commonly characterized by tumors of the pituitary, parathyroid, endocrine-gastrointestinal tract, and pancreas. A MEDLINE search for all available publications regarding multiple endocrine neoplasia type 1 and p...

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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...

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An unusual phenotype of MEN1 syndrome with a SI-NEN associated with a deletion of the MEN1 gene.

UNLABELLED We report about a young female who developed an unusual and an aggressive phenotype of the MEN1 syndrome characterized by the development of a pHPT, malignant non-functioning pancreatic and duodenal neuroendocrine neoplasias, a pituitary adenoma, a non-functioning adrenal adenoma and also a malignant jejunal NET at the age of 37 years. Initial Sanger sequencing could not detect a ger...

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ژورنال

عنوان ژورنال: Case Reports in Medicine

سال: 2014

ISSN: 1687-9627,1687-9635

DOI: 10.1155/2014/804580