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Schematic diagram of the RET protooncogene showing mutations found in multiple endocrine neoplasia (MEN) type 2 and sporadic medullary thyroid
carcinoma (MTC). The RET protooncogene is located on the proximal arm of chromosome 10q (10q11.2). Activating mutations of two functional domains
of RET tyrosine kinase receptor have been identified. The first affects a cysteine-rich (Cys-Rich) region in the extracellular portion of the receptor. Each
germ-line mutation changes a cysteine at codons 609, 611, 618, 620, or 634 to another amino acid. The second region is the intracellular tyrosine kinase
(TK) domain. Codon 634 mutations account for ~80% of all germ-line mutations. Mutations of codons 630, 768, 883, and 918 have been identified as
somatic (non–germ-line) mutations that occur in a single parafollicular or C cell within the thyroid gland in sporadic MTC. A codon 918 mutation is the most
Source: MULTIPLE ENDOCRINE NEOPLASIA, Harrison's Hematology and Oncology, 2e
common somatic mutation. Cadherin, a cadherin-like region in the extracellular domain; CLA, cutaneous lichen amyloidosis; FMTC, familial medullary
Citation:
Longo
DL. Harrison's
Hematology
and Oncology,
2e; signal
0 Available
at: TK,
http://mhmedical.com/
Accessed:
May 04, 2017 domain.
thyroid carcinoma;
MEN2,
multiple
endocrine
neoplasia type
2; Signal, the
peptide;
tyrosine kinase domain;
TM, transmembrane
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