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. 2021 Dec 12;16:114. doi: 10.1186/s13000-021-01173-5

Table 2.

The main genetic findings of 9 MEITL cases.

case Somatic mutations Copy number variations
STAT5B TP53 JAK3 SETD2 STAT5A chromosomal arms CNV type
1 p.R248Q p.M511I

p.N642H

p.G472S

8p,8q,9p,12p,20p deletion
4q,7q,9q amplification
2 p.N642H p.I232Sfs*15 4p,4q,7p,10p,10q,15q,18p deletion
1q,9q,19q amplification
3 p.Y665F p.V147Afs*19 p.A573V

p.E1772_I1781delinsV

p.D2004Ifs*13

4p,7p,8p,18p,21q deletion
7q,8q,9q,12p,12q,18q,22q amplification
4 p.Q701L 6p,7p,18p deletion
9q,21q amplification
5 7p,8p deletion
7q,9q,19q,19p amplification
6 p.A766V p.G105C p.R657Q 1q,7q,9q,19q,19p amplification
7 p.N642H p.S1572*
8
9 21q deletion
1q,6p,8q,9q,20q,22q amplification