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Table 1 Distribution of RET single mutations in MEN2 with ATA-classified, demographic characteristics and the presence of MTC, PHEO, PHPT, CLA and HD

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

ATA-2015
Risk category
RET
mutation
Nucleotide change Family
(No, %)
No. available
/ Carriers
Sex
(M/F)
MTC PHEO HPTH CLA HD
No. patient
(%)
MAD
(range, yrs)
No. patient
(%)
MAD
(range, yrs)
No. patient
(%)
MAD (range, yrs) No. patient
(%)
MAD
(range,yrs)
No. patient
(%)
MAD
(range, yrs)
ATA-MOD C609R c.1825 T > C 1 (1.5) 1/1 0/1 1 (100) 52
C611Y c.1832G > A 1 (1.5) 17/17 8/9 15 (88.2) 45.9 (23–74) 2 (12.5) 53 (37,69) 1 (6.3) 40
C611F c.1832-1833delGCinsTT 1 (1.5) 1/1 1/0 0 (0) 1 32 1 32
C618G c.1852 T > G 2 (3.1) 4/4 2/2 4 (100) 57.8 (37–83)
C618R c.1852 T > C 4 (6.2) 25/25 6/19 24 (96) 40.3 (21–60) 2 (8) 57.5 (46,69) 1 60 1(4) 6+/−
C618S c.1852 T > A 1 (1.5) 12/12 3/9 11 (91.2) 41.1 (24–59)
C618Y c.1853G > A 1 (1.5) 9/9 3/6 8 (88.9) 55.3 (35–78)
C620R c.1858 T > C 1 (1.5) 1/1 1/0 1 (100) 27
C620S c.1859G > C 1 (1.5) 1/1 1/0 1 (100) 39 (39)
L790F c.2370G > T 8 (12.3) 15/30a 11/19 14 (93.3) 46.1 (27–70)
V804M c.2410G > A 4 (6.2) 4/4 4/0 4 (100) 50.7 (40–69)
S891A c.2671 T > G 2 (3.1) 6/6 4/2 3 (50) 42 (25–62)
ATA-H C634F c.1901G > T 2 (3.1) 3/3 1/2 3 (100) 31.7 (8–58) 1 (33.3) 26 (26)
C634G c.1900 T > G 2 (3.1) 7/7 3/4 7 (100) 52.2 (43–66) 3 (42.9) 54.6 (45–66) 3 (42.9) 54 (53,54,55)
C634R c.1900 T > C 5 (7.7) 15/15 6/9 15 (100) 32.6 (18–65) 6 (40) 34 (21–47) 1 40 1 (6.3) 40
C634S c.1900 T > A 1 (1.5) 3/3 2/1 3 (100) 61.3 (51–77)
C634W c.1902C > G 1 (1.5) 1/1 0/1 1 (100) 34 1 (100) 34 1 (100) 34 1 (100) 34
C634Y c.1901G > A 22 (33.8) 69/69 37/32 69 (100) 34.3 (5.5–80) 32 (46.3) 42 (18–75) 7 (10) 30 (15–55)
ATA-HST M918T c.2753 T > C 5 (7.7) 5/5 2/3 5 (100) 25.4(8–34) 2 (40) 36 (22–50)
Total 19   65 (100) 199/214 95/119 189 (95.0)b 40.5(5.5–83)c 50 (25.1) 41.9 (18–75) 11 (5.5) 34.2 (15–60) 6 (5.0) 42 (34–55)d 1 (0.5) NA
  1. MEN2 multiple endocrine neoplasia type 2, ATA American Thyroid Association. Risk of aggressive MTC: MOD moderate, H high, HST highest, M Male, F Female, MTC medullary thyroid carcinoma, PHEO pheochromocytoma, HPTH hyperparathyroidism, CLA cutaneous lichen amyloidosis, HD Hirschsprung’s disease, AD average age of diagnosis, yrs. years, negative, NA not available
  2. a The 15 other carriers rejected further clinical and biochemical/imaging examinations
  3. b 10 of the 199 MEN2 patients had no abnormality
  4. c The mean age at the time of MTC diagnosis in184 MEN2A patients was 38.09 ± 17.18 years
  5. d Mean age at onset of CLA was 20 yrs. (range, 12–26)
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