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Table 5 Five offspring of individuals with MEN2A-PHEO and their parents with MEN2A no evidence of PHEO and RET variants/SNPs

From: Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China

Family RET mutation Age of diagnosis (years)* Phenotype PHEO, L/R (cm) Concomitant of RET variants/SNPs
1 C634Y Son, 18 MTC + PHEO −/5.5 A45A, A432A, L769L
Father, 42 MTC A45A, A432A
2 C634R Son, 21 MTC + PHEO 3.5/ – A45A, A432A, G691S, L769L
Father, 47 MTC A432A
3 C634Y Daughter, 26 MTC + PHEO −/4.0 A432A
Mother, 55 MTC A45A, A432A
4 C634F Daughter, 29 MTC + PHEO 2.7/ – A45A, T278N, A432A
Mother, 57 MTC + CLA V292M, R67H, R982C, A432A, L769L, S904S
5 C611Y Daughter, 37 MTC + PHEO+CLA −/4.8 A45A, A432A, L769L
Father, 74 MTC A45A, A432A, L769L
  1. *The age at which the offspring was diagnosed with unilateral PHEO and the age of their father or mother of MEN2A patient at that time
  2. MTC, medullary thyroid carcinoma; PHEO, pheochromocytoma; CLA, cutaneous lichen amyloidosis; L/R, left or right; SNPs, single nucleotide polymorphisms
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