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Table 2 Pedigree investigation information

From: Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation

Family No.

Patient No.

diagnosis

symptoms

co-mutate genes

Carriers of germline TET2 mutations in lineage relatives

Same mutation or not

carriers’ symptoms

carriers’ sample

Family

history

F1

P1

neutropenia

Fever

Sister (F 1-II-2) Mother (F 1-I-2)

Y

Hair/nail

F11

P11

AML-M2

Dizziness nasal bleeding

ZRSR2 (GM)KIT (SM)

Brother (F 11-II-4) Son (F 11-III-1)

Y

Hair/nail/PB

F17

P17

MDS-SLD

Dizziness, fever nasal bleeding

Father (F 17-I-1) sister (F 17-II-4)

Y

Hair/nail

F19

P19

MDS-EB2

nasal bleeding

TP53 (SM)

Brother (F 19-II-3)

Y

Hair/nail

F22

P22

MDS-EB2

TP53 (SM)ETV6 (SM)

Y

Hair/nail

F24

P24

MDS-SLD

Dizziness, fatigue

ZRSR2 (GM) ETV6 (SM)

Sister (F 24-II-3) Brother (F24-II-4) Daughter (F 24-III-1) Son (F 24-III-2)

Y

Hair/nail

F25

P25

AA

Dizziness, fatigue

ZRSR2 (GM)

Sister (F 25-II-3)

Y

Hair/nail

F28

P28

MDS-MLD

Fatigue, dizziness

NF1 (GM)

Y

 

Hair/nail

F31

P31

MDS-RAEB2

Dizziness, fatigue

ZRSR2 (GM)

Sons (F 31-III-1/3) Grandson (F 31-IV-1)

Y

Hair/nail

  1. Aberration: GM, germline mutation; SM, somatic mutation; PB, peripheral blood. P, patient; F, family; −, none; Y, carriers have the same mutations of germline TET2 as proband patients