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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