Skip to main content

Table 3 Clinical presentations of patients with MEN2A and RET compound mutations

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

RET mutation and pattern Nucleotide change Family
(No.)
Sex
(M/F)
No. patient
/ All carriers
MTC PHEO CLA
No. patient
(%)
MAD
(range, yrs)
No. patient
(%)
MAD
(range, yrs)
No. patient
(%)
MAD
(range, yrs)
C634Y/V292M/R67H/R982Ca, trans c.[1901G > A(;)c.874G > A(;)c.200G > A(;)c.2944C > T] 2 0/2 2/2 2 (100) 22.5 (13,32)
C634Y/R114H, NA c.[1901G > A(;)c.341G > A] 1 1/0 1/1 1 (100) 15 (15)
C634Y/D489N, trans c.[1901G > A(;)c.1465G > A] 2 2/1 3/3 3 (100) 33.6 (12,34,55)
C634F/V292M/R67H/R982Cb, trans c.[1901G > T(;)c.874G > A(;)c.200G > A(;)c.2944C > T] 1 0/1 1/1 1 (100) 21 (21) 1 (100) 57
C634F/T278N, trans c.[1901G > T(;)c.833C > A] 1 0/1 1/1 1 (100) 29 (29) 1 (100) 29 (31)
C634S/D489N, NA c.[1900 T > A(;)c.1465G > A] 1 0/1 1/1 1 (100) 34 (34) 1 (100) 34 (34) 1 (100) 36
C634S/Q194H, trans c.[1900 T > A(;)c.582G > C] 1 1/1 2/2 2 (100) 43 (39,47)
C634R/P679P,NA c.[1900 T > C(;)c.2037C > T] 1 1/0 1/1 1 (100) 23 (23) 1 (100) 34 (34)
C634R/I803I, trans c.[1900 T > C(;)c.2409C > T] 1 1/1 2/2 2 (100) 29.5 (27,32)
C618R/A639T, cis c. [1852 T > C(;).c.1915G > A] 1 3/0 3/3 3 (100) 26 (15,25,38)
C618R/T278N, trans c. [1852 T > C(;).c.833C > A] 1 1/0 1/1 1 (100) 36 (36)
C618Y/R114H, trans c.[1832G > A(;)c.341G > A] 1 1/1 2/2 2 (100) 32 (24,40)
C618Y/A1105V, trans c.[1832G > A(;)c.3314C > T] 1 0/2 2/2 2 (100) 53 (47,59)
C618S/R114H, trans c.[1852 T > A(;)c.341G > A] 1 0/1 1/1 1 (100) 12 (12)
C620S/R114H,NA c.[1859G > C(;)c.341G > A] 1 0/1 1/1 1 (100) 25 (25)
L790F/K3K, trans c.[2370G > T(;)c.9G > A] 1 1/0 1/1 1 (100) 63 (63)
S891A/T278N, trans c.[2671 T > G(;)c.833C > A] 1 0/1 1/1 1 (100) 44 (44)
S891A/R525Wc, trans c.[2671 T > G(;)c.1573C > T] 1 1/1 2/2 2 (100) 62 (58,66)
S891A/A1068L, trans c.[2671 T > G(;)c.3202_3203delGCinsTT] 1 0/3 3/3 3 (100) 32.7 (25,33,40)
Total 19 21d 13/18 31/31 31 (100) 33.5 (12 ~ 66) 3 (9.7)e 32.3 (29 ~ 34) 2 (6.1) 46.5 (36,57) f
  1. –, negative; NA, not available; M, Male; F, Female; MTC, medullary thyroid carcinoma; PHEO, pheochromocytoma; CLA, cutaneous lichen amyloidosis; MAD, mean age of diagnosis; yrs., years
  2. a 1 of 2 patients with C634Y/V292M/R67H/R982C was reported previously in Reference 24, and the age at diagnosis of MTC was 13 yrs.
  3. b The patients with C634F/V292M/R67H/R982C presented with MTC/PHEO/CLA reported previously in Ref. 42, and age at onset of CLA was 11 yrs.
  4. c 2 patients presented MTC with S891A/R525W and associated cutaneous amyloidosis binding OSMR variant p.G513D reported previously in Ref. 38
  5. d Of these 31 patients from 21 families, 19 patients belong to 15 families in Table 1, the remaining 12 patients from 8 families were additive and independent
  6. e Occurrence rate of PHEO in exon 11 compound mutations was 21.4%
  7. f 2 patients presented CLA and age of onset were 11, 22 yrs., respectively