Multiple Endocrine Neoplasia Type 2b
|
1.000 |
Biomarker
|
disease |
BEFREE |
The literature on PHEO in patients with MEN2B is limited with most data being reported from adult studies that primarily address MEN2A.
|
30113649 |
2019 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified seven familial and 68 de novo cases of MEN2B; 61 exhibited the RET M918T genotype (2 others exhibited A883F and E768D/L790T mutations).
|
29077903 |
2018 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients who died because of MTC had a median age of 61 years (range 21-84) and were at stages III-IV in all cases; deaths occurred in 18% of sporadic MTC, 6% of MEN2a and 66.7% of MEN2b patients.
|
29134313 |
2018 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We also examined the sensitivity of RET (M918T), a RET mutation prevalent in aggressive multiple endocrine neoplasia type 2B, to these TKIs in the context of BaF3/KR cells.
|
29908090 |
2018 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
Biomarker
|
disease |
BEFREE |
For example, the detection of a mutated <i>RET</i> allele in family members at risk for inheriting MEN2A or MEN2B signaled that they would develop MTC, and possibly other components of the syndromes.
|
29142004 |
2018 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This family of 11 individuals with familial MTC type of MEN 2A syndrome demonstrated the moderate risk RET p.Val804Met (protein valine at residue 804 replaced by methionine) genetic mutation, with 2 of the relatives presenting with dermal hyperneury, cutaneous lesions classically described in MEN 2B syndrome, and 1 relative also showing multiple sclerotic fibromas, a cutaneous manifestation of PTEN (phosphatase and tensin homologue) hamartoma-tumor syndrome.
|
29049491 |
2017 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.
|
28323957 |
2017 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2B (MEN2B) syndrome with "highest risk" RET mutation.
|
28925363 |
2017 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
Biomarker
|
disease |
BEFREE |
Rarely, patients present with typical physical features of MEN2B but without associated endocrinopathies (medullary thyroid carcinoma or pheochromocytoma) or a RET gene mutation; this clinical presentation is thought to represent a distinct condition termed 'pure mucosal neuroma syndrome'.
|
26708403 |
2016 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The objectives of this study are to describe the rare M918V RET mutation discovered in 8 MTC kindreds from Brazil lacking the MEN 2B phenotype classically observed in M918T patients and to investigate the presence of a founder effect for this germline mutation.
|
27807060 |
2016 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
Biomarker
|
disease |
BEFREE |
The MEN2A and MEN2B syndromes are due to activating mutations in the proto-oncogene RET (Rearranged in Transfection) and are characterized by different phenotypic features of the affected patients.
|
26184857 |
2016 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These autosomal dominant conditions occur in four types: MEN1 due to inactivating MEN1 mutations; MEN2A and MEN2B (MEN3) due to activating mutations of RET and MEN4 due to inactivating cyclin-dependent kinase inhibitor 1B (CDKN1B) mutations.
|
24931355 |
2014 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Forty-four MEN 2B patients carrying inherited (3 patients) and de novo (41 patients) M918T RET mutations were examined for signs and symptoms prompting MEN 2B.
|
23979292 |
2014 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop.
|
25162666 |
2014 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel combination of tandem RET mutations (Q781R/V804M) in a MEN2B-like patient.
|
23468374 |
2013 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
Biomarker
|
disease |
BEFREE |
Since RET function in mouse spermatogonial stem cells has been extensively studied, we are able to suggest that the MEN2B mutation provides a selective advantage by altering the PI3K/AKT and SFK signaling pathways.
|
22359510 |
2012 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Medullary thyroid cancer in a 9-week-old infant with familial MEN 2B: Implications for timing of prophylactic thyroidectomy.
|
22992277 |
2012 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indolent form of medullary thyroid carcinoma compared with a RET M918T mutation.
|
21186952 |
2011 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
|
20979234 |
2011 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Familial pediatric endocrine tumors.
|
21934104 |
2011 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim of this work was to develop a single oligoarray by using tandem hybridization to detect the T918C/RET mutation for MEN 2B patients.
|
21253810 |
2011 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present the clinical data for a family with MEN-2B associated with RET-A883F mutation.
|
21186952 |
2011 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Multiple endocrine neoplasia type 2.
|
20833330 |
2010 |
Multiple Endocrine Neoplasia Type 2b
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer.
|
20664475 |
2010 |