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  • Title: Genetics of the multiple endocrine neoplasia type 2B syndrome.
    Author: Jackson CE, Norum RA.
    Journal: Henry Ford Hosp Med J; 1992; 40(3-4):232-5. PubMed ID: 1362412.
    Abstract:
    Multiple endocrine neoplasia type 2B (MEN 2B) is similar to MEN 2A in that both autosomal dominant syndromes include medullary thyroid cancers and pheochromocytomas. It is distinct in that MEN 2B patients have much earlier age of onset with more aggressive tumors and mucosal neuromas of the lips and tongue. The neuromas allow ascertainment generally before age 5. Studies of two and three generations of 14 MEN 2B families disclosed close linkage of the MEN 2B gene to DNA markers to which MEN2A had been linked. Multipoint analysis utilizing additional results in three generations of a 15th family have disclosed a peak total lod score of 8.89 at the midpoint between the centromere markers D10Z1 and RBP3 on the long arm (band q11). One recombinant was observed between D10Z1 and MEN2B, but this individual was not recombinant with D10S94. These studies suggest physical proximity of MEN2A and MEN2B but do not establish allelism for the gene(s).
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