Thyroid Carcinoma, Papillary, With Papillary Renal Neoplasia

Clinical Features

Malchoff et al. (1999) studied an unusually large 3-generation family with papillary thyroid carcinoma (PTC; see 188550). To characterize more fully the clinical phenotype of familial PTC, Malchoff et al. (2000) investigated the clinical and pathologic characteristics of this kindred. In addition to the known association of PTC with nodular thyroid disease, they observed the otherwise rare entity of papillary renal neoplasia (PRN; see 605074) in 2 kindred members, one affected with PTC and the other an obligate carrier. Malchoff et al. (2000) considered the multifocality of PRN in 1 subject to add weight to the likelihood of a true genetic predisposition to PRN.

Mapping

In a large 3-generation kindred with PTC, thyroid nodules, and papillary renal neoplasia, Malchoff et al. (2000) performed linkage analysis to determine the chromosomal location of a susceptibility gene. A maximum 3-point log of likelihood ratio score of 3.58 was observed for markers D1S2343 and D1S2345 and for markers D1S2343 and D1S305. Critical recombination events limited the region of linkage to approximately 20 cM on chromosome 1q21. Both genetic linkage and sequence analysis excluded MET (164860), the protooncogene of isolated familial PRN, as the cause of the PTC/PRN phenotype.