A novel deletion in the RET proto-oncogene found in sporadic medullary thyroid carcinoma.

Abstract:

:Germ line point mutations in the RET proto-oncogene have been implicated in four inherited disorders: multiple endocrine neoplasia 2A (MEN 2A) and 2B (MEN 2B); familial medullary thyroid carcinoma (FMTC); and Hirschprung's disease, a congenital lack of enteric plexus neurons. Oncogenically activated RET has also been demonstrated in some sporadic medullary thyroid tumors, which show somatic missense mutations in the same regions as those found in MEN 2B. Upon screening archival sporadic MTC tumor tissue by nonradioactive single-strand conformational polymorphism analysis (SSCP), a markedly divergent exon 11 pattern was found in an unusually aggressive neoplasm. Sequencing of PCR amplified DNA revealed the deletion of nine bases encompassing a key cysteine codon at position 1831-3, often altered in MEN 2A. Normal thyroid tissue from the same patient showed a normal SSCP pattern and sequence for this exon. This novel somatic mutation further implicates the RET proto-oncogene in the development of MTC.

journal_name

Anticancer Res

journal_title

Anticancer research

authors

Alemi M,Lucas SD,Sällström JF,Akerström G,Wilander E

subject

Has Abstract

pub_date

1996-09-01 00:00:00

pages

2619-22

issue

5A

eissn

0250-7005

issn

1791-7530

journal_volume

16

pub_type

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