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 |
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Eight patients (21%) developed PHEO in the course of follow-up to date, all of whom were sporadic cases with the classic M918T RET mutation.
|
30113649 |
2019 |
Pheochromocytoma
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
RET isoforms were expressed at different levels in MTC, PHEO, PTC, and normal thyroid tissues: RET9 expression was higher in PHEO than in MTC, PTC, and normal thyroid tissues.
|
31278686 |
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 |
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with medullary thyroid carcinoma (MTC) in 100% cases, pheochromocytoma in 50% cases and multiple extra-endocrine features, many of which can be quite disabling.
|
28698189 |
2018 |
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The remaining 15 RET mutation carriers did not exhibit CLA; of these, 1 presented with MTC and pheochromocytoma, 9 with MTC only, 2 with elevated serum calcitonin, and 3 younger subjects with normal serum calcitonin levels.
|
30049837 |
2018 |
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
Of the 92 cases included 64% had presented as an incidentaloma, 32% as a suspected pheochromocytoma and 4% had been screened because of previously diagnosed MEN2A.
|
29217652 |
2018 |
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The remaining 15 RET mutation carriers did not exhibit CLA; of these, one presented with MTC and pheochromocytoma, nine with MTC only, two with elevated serum calcitonin and three younger subjects with normal serum calcitonin levels.
|
30300539 |
2018 |
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial screening for rearranged during transfection mutation and lifelong monitoring for associated pheochromocytoma should be emphasized in hereditary medullary thyroid carcinoma.
|
29779869 |
2018 |
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, one patient had also a pheochromocytoma suggesting a possible pathogenetic role of this variant in the genesis of MEN2A.
|
30072953 |
2018 |
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient with homozygous RET K666N mutation with MTC and bilateral pheochromocytoma (PHEO).
|
29408964 |
2018 |
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Besides RET and HRAS, FGFR1 is only the third protooncogene found to be recurrently mutated in pheochromocytomas.
|
29159601 |
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 |
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The findings propose a classification of 15 of the 26 VUS in RET without any well-defined risk profiles and suggest that the G691S SNP, or a combination of SNPs, may be associated with the development of PHEO.
|
28946813 |
2017 |
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hereditary Medullary Thyroid Carcinoma is caused by RET mutations, and may be associated to Pheochromocytomas in MEN 2 setting.
|
28455835 |
2017 |
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We also identified several neutral variants within RET and pheochromocytoma-related genes.
|
28569245 |
2017 |
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
One patient with/MEN2A underwent bilateral resection of pheochromocytomas in two stages.
|
29518759 |
2017 |
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We generated induced pluripotent stem cells (iPSCs) from a patient with RET mutation at codon 918 who developed pheochromocytoma and MTC.
|
28925363 |
2017 |
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Multiple endocrine neoplasia type 2A (MEN2A) is a condition with inherited autosomal dominant mutations in RET (rearranged during transfection) gene that predisposes the carrier to extremely high risk of medullary thyroid cancer (MTC) and other MEN2A-associated tumors such as parathyroid cancer and/or pheochromocytoma.
|
28099363 |
2017 |
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with MEN2A caused by a D631Y RET mutation most commonly present with pheochromocytomas.
|
28747092 |
2017 |