1 MEN 2A families with RET exon 10 Cys mutations had a sub
2 The clinical subtypes of MEN
2 (
MEN 2A, MEN 2B and familial MTC) all have medullary thyr
3 types: multiple endocrine neoplasia type
2A (
MEN 2A) and multiple endocrine neoplasia type 2B (MEN 2B
4 multiple endocrine neoplasia (MEN) type
2A (
MEN-2A) or type 2B or familial medullary thyroid carcino
5 ultiple endocrine neoplasia types 2A and
2B (
MEN 2A and MEN 2B) and familial medullary thyroid carcin
6 Comparisons of MEN 2B
and MEN 2A MTCs revealed that genes involved in the process
7 ce for somatic VHL gene deletion in all
four MEN 2A-related pheochromocytomas.
8 2A, eight patients with HD were
identified (
MEN 2A-HD).
9 However, HSCR1
in MEN 2A is not exclusive to C618R or C620R RET mutations
10 findings suggest that expression of HSCR1
in MEN 2A may be peculiar to RET exon 10 Cys mutations .
11 An initial report linked HSCR1
in MEN 2A solely to the C618R and C620R RET mutations.
12 ven families had been previously reported
in MEN 2A or FMTC and occurred in exon 10 at codons 609, 61
13 The 3 recognized subtypes
include MEN 2A, characterized by medullary thyroid carcinoma (MT
14 Occasionally MEN 2A or FMTC occurs in association with HSCR1, albeit
15 Cutaneous manifestations
of MEN 2A syndrome include macular amyloidosis, whereas MEN
16 le mechanisms underlying the pathogenesis
of MEN 2A-related pheochromocytoma.
17 syndrome was included within the spectrum
of MEN 2A syndrome.
18 of 11 individuals with familial MTC type
of MEN 2A syndrome demonstrated the moderate risk RET p.Val
19 ns of patients with the familial MTC type
of MEN 2A syndrome.
20 carriers of a RET mutation characteristic
of MEN-2A had no evidence of persistent or recurrent medull
21 carriers of a RET mutation characteristic
of MEN-2A underwent total thyroidectomy.
22 irty-six of the 61 patients (59%)
responded (
MEN 2A = 8, MEN 2B = 28) to the questionnaires.
23 may play a role in the tumorigenesis of
some MEN 2A-related pheochromocytomas.
24 le model to further study the effects of
the MEN 2A RET mutation in vivo.
25 etween disease phenotype and position of
the MEN 2A RET mutation suggests that oncogenic activation o
26 onset of malignancy in MEN 2B compared
with MEN 2A patients.
27 and early malignancy in MEN 2B compared
with MEN 2A syndrome.
28 From 83 families
with MEN 2A, eight patients with HD were identified (MEN 2A-H
29 this study we have analyzed 44 families
with MEN 2A.
30 ed four pheochromocytomas from patients
with MEN 2A and RET germline mutations for the presence of al
31 In addition, some patients
with MEN 2A develop Hirschsprung's disease (HD), and all pati
32 ns not previously described in patients
with MEN 2A syndrome and to discuss the association of this d
33 ns not previously described in patients
with MEN 2A syndrome.
34 Patients
with MEN 2A-HD had a typical HD presentation and always requi
35 All patients
with MEN 2A-HD had rectal biopsies with a diverting colostomy
36 All patients
with MEN 2A-HD were operated on for HD 2 to 63 years before b
37 sm for tumor formation in some patients
with MEN 2A-related MTC.
38 chanisms of tumor formation in patients
with MEN 2A-related pheochromocytoma.
39 mechanisms of tumorigenesis in patients
with MEN 2A-related pheochromocytoma.
40 hich were microdissected) from patients
with MEN 2A.
41 HSCR1 co-segregated
with MEN 2A in seven (16%) of the 44 families.
42 asymptomatic young members of kindreds
with MEN-2A who had a mutated allele of the RET proto-oncogen