PMID- 10915003
OWN - NLM
STAT- MEDLINE
DCOM- 20001130
LR  - 20191025
IS  - 0753-3322 (Print)
IS  - 0753-3322 (Linking)
VI  - 54 Suppl 1
DP  - 2000 Jun
TI  - Absence of somatic RET gene mutation in sporadic parathyroid tumors and 
      hyperplasia secondary to uremia, and absence of somatic Men1 gene mutation in 
      MEN2A-associated hyperplasia.
PG  - 100s-103s
AB  - Germline mutations of the MEN1 gene are found in more than 85% of multiple 
      endocrine neoplasia type 1 (MEN 1) patients, and germline mutations of the RET 
      gene are found in more than 95% of multiple endocrine neoplasia type 2 (MEN2) 
      patients. Parathyroid hyperplasia is seen in more than 90% of MEN 1 and about 15% 
      of MEN2A patients. To date, somatic MEN1 mutations are reported in about 20% of 
      sporadic parathyroid tumors. To elucidate the genetic basis of parathyroid tumor 
      development, we examined somatic RET gene mutations in sporadic parathyroid 
      tumors and hyperplasia secondary to uremia, and somatic MEN1 gene mutations in 
      parathyroid hyperplasia from MEN2A patients. A total of 145 parathyroid tumors 
      comprising 129 sporadic parathyroid tumors, 14 hyperplastic lesions secondary to 
      uremia, and two hyperplastic lesions from MEN2A patients were examined. DNA was 
      extracted from fresh frozen parathyroid tissue. Exons 2-10 of the MEN1 gene and 
      exons 10 and 11 of the RET gene were sequenced. No somatic RET gene mutations 
      were found in the 129 sporadic parathyroid tumors or 14 parathyroid hyperplastic 
      lesions secondary to uremia. No somatic MEN1 gene mutations were found in the two 
      parathyroid hyperplasia from MEN2A patients. These data suggest that RET gene 
      mutation may not be involved in the development of sporadic parathyroid tumors 
      and hyperplasia secondary to uremia and that MEN1 gene mutation may not be or is 
      rarely associated with development of parathyroid hyperplasia in MEN2A patients.
FAU - Uchino, S
AU  - Uchino S
AD  - Noguchi Thyroid Clinic and Hospital Foundation, Beppu, Oita, Japan.
FAU - Noguchi, S
AU  - Noguchi S
FAU - Nagatomo, M
AU  - Nagatomo M
FAU - Sato, M
AU  - Sato M
FAU - Yamashita, H
AU  - Yamashita H
FAU - Yamashita, H
AU  - Yamashita H
FAU - Watanabe, S
AU  - Watanabe S
FAU - Murakami, T
AU  - Murakami T
FAU - Toda, M
AU  - Toda M
FAU - Wakiya, S
AU  - Wakiya S
FAU - Adachi, M
AU  - Adachi M
LA  - eng
PT  - Clinical Trial
PT  - Journal Article
PL  - France
TA  - Biomed Pharmacother
JT  - Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
JID - 8213295
RN  - 0 (Drosophila Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 9007-49-2 (DNA)
RN  - EC 2.7.10.1 (Proto-Oncogene Proteins c-ret)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
RN  - EC 2.7.10.1 (Ret protein, Drosophila)
SB  - IM
MH  - Aged
MH  - DNA/genetics/isolation & purification
MH  - *Drosophila Proteins
MH  - Exons/genetics
MH  - Female
MH  - Humans
MH  - Hyperplasia/metabolism
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Multiple Endocrine Neoplasia Type 2a/*genetics
MH  - Mutation/*genetics
MH  - Parathyroid Neoplasms/*genetics
MH  - Proto-Oncogene Proteins/*genetics
MH  - Proto-Oncogene Proteins c-ret
MH  - Receptor Protein-Tyrosine Kinases/*genetics
MH  - Uremia/*genetics/metabolism
EDAT- 2000/07/29 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/07/29 11:00
PHST- 2000/07/29 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/07/29 11:00 [entrez]
AID - S0753-3322(00)80023-2 [pii]
AID - 10.1016/s0753-3322(00)80023-2 [doi]
PST - ppublish
SO  - Biomed Pharmacother. 2000 Jun;54 Suppl 1:100s-103s. doi: 
      10.1016/s0753-3322(00)80023-2.