Table 3 Chromosome 21 CN status in cases of B-ALL with abnormalities of SH2B3 reported in the literature

From: SH2B3 inactivation through CN-LOH 12q is uniquely associated with B-cell precursor ALL with iAMP21 or other chromosome 21 gain

Study

Diagnosis

patient ID

abnormality

Sub-type

chr 21 CN status

Roberts 2014 [28]

B-ALL

SJBALL021786

p.L224fs

Ph-like

+21

B-ALL

SJBALL021415

Deletion

Ph-like

+21

B-ALL

SJBALL020013

Deletion

Ph-like

iAMP21a

B-ALL

SJHYPO018

p.V402M

Ph-like

+21

B-ALL

SJBALL020984

p.L347fs

Ph-like

iAMP21a

B-ALL

SJBALL239

N/A

Ph-like

iAMP21a

B-ALL

SJBALL021720

p.A98D

Ph-like

iAMP21a

B-ALL

SJBALL021058

p.S245_E3splice

Ph-like

iAMP21a

B-ALL

SJBALL021373

p.R398fs

Ph-like

iAMP21a

Perez-Garcia 2013 [27]

B-ALL

NA

pD231fs

NA

Normal

B-ALL

NA

pQ427fs

NA

NA

Lindqvist 2016 [30]

B-ALL

(B) ALL-128

p.L188P/p.Q191fs/ p.S192R/p.193_194del

Other

NA

B-ALL

(B) ALL-109

p.G312V

t(12;21)

NA

Olsson 2015 [29]

B-ALL

2

Deletion

Other

NA

B-ALL

5

Deletion

iAMP21

iAMP21

B-ALL

20

fsb

HeH

+21

B-ALL

N/A

p.S213R

NA

NA

B-ALL

N/A

p.E78K

NA

NA

B-ALL

N/A

p.R175W

NA

NA

B-ALL

N/A

p.R397G

NA

NA

Ivanov Ofverholm 2016 [41]

B-ALL

KSALL12

Deletion

iAMP21

iAMP21

B-ALL

KSALL20

Deletion

iAMP21

iAMP21

B-ALL

KSALL44

Deletion

iAMP21

iAMP21

Reshmi 2017 [31]

B-ALL

PAVJMN

Missenseb

Ph-like

iAMP21a

B-ALL

PAUZPC

Deletion

Ph-like

iAMP21a

B-ALL

PAVUJK

Deletion

Ph-like

iAMP21a

B-ALL

PAUXDJ

fsb

Ph-like

iAMP21a

B-ALL

PAWBPX

Deletion

Ph-like

iAMP21a

B-ALL

PAVGVK

Deletion

Ph-like

iAMP21a

B-ALL

PAVMFF

Deletion

Ph-like

+21, +21, +21a

Russell 2017 [32]

B-ALL

11706

fsb

iAMP21

iAMP21

  1. aChromosome CN status not disclosed on publication, personal communication from M. Devidas on behalf of the Childrens Oncology Group USA
  2. bsequence change not presented