#3662
Nothing but NET? Neuroendocrine tumors in multiple endocrine neoplasia 4
Introduction:
Multiple endocrine neoplasia 4 (MEN4) is a rare multi-neoplasia syndrome caused by a germline pathogenic variant in CDKN1B gene, encoding p27, a cell-cycle regulator. MEN4 manifestations include primary hyperparathyroidism (PHPT), pituitary adenomas (PitAd), and neuroendocrine neoplasms (NEN). The characteristics of MEN4-NENs have not been thoroughly characterized thus far.
Conference:
Presenting Author:
Authors:
Halperin R,
Arnon L,
Nasirov S,
Friedensohn L,
Gershinsky M,
Keywords:
MEN4,
CDKN1B,
lifetime risk,
genotype-phenotype,
multiple endocrine neoplasia,
#2176
New MENIN Mutation Associated with Familial Isolated Hyperparathyroidism. Clinical Case of Three Young Sisters.
Introduction:
The primary hyperparathyroidism (PHPT) is a sporadic disorder in the majority of cases, and only 5-10% of cases are associated with familial syndromes. The following familial syndromes associated with PHPT are known to date: multiple endocrine neoplasia type 1 (MEN1), type 2A (MEN2A), type 4 (MEN4), hyperparathyroidism-jaw tumor syndrome (HPT-JT), familial hypocalciuric hypercalcemia (FHH), neonatal severe hyperparathyroidism (NSHPT) and familial isolated hyperparathyroidism (FIHP). FIHP is defined as hereditary PHPT without the association with other diseases or tumors and may be caused by mutations in MEN1, HRPT2, or CASR genes.
Conference:
15th Annual ENETSConcerence (2018)
Presenting Author:
Krupinova K
Authors:
Mokrysheva N,
Krupinova J,
Eremkina A,
Tiulpakov A,
Keywords:
primary hyperparathyroidism,
familial isolated hyperparathyroidism,
familial syndromes,
MEN1,
parathyroid hyperplasia,
#1478
The Role of p27 in Pheochromocytoma Development
Introduction:
The Cdkn1b gene, encoding p27, is a tumor susceptibility gene for multiple endocrine neoplasia syndromes in rats (MENX) and humans (MEN4) with development of pheochromocytoma (PCC), respectively. Recently, it was reported that p27 indirectly regulates gene transcription by associating with transcription factors (TF) and inhibiting gene transcription at specific promoters.
Conference:
13th Annual ENETSConcerence (2016)
Presenting Author:
Richter A
Authors:
Richter A,
Lalli E,
Sass S,
Pellegata N,
Keywords:
pheochromocytoma,
p27,
ChIP-Seq,
