TABLE 2.
Genetic subtype a | Recurrent chromosomal abnormality | Case ID | Number of detected variants | ||
---|---|---|---|---|---|
CBA/FISH/RT‐PCR | OGM | ||||
B‐ALL | t(12;21) | t(12;21)(p13;q22) [ETV6::RUNX1] | 3;4;10;29 | 4 | 4 |
t(1;19) | t(1;19)(q23;p13.3) [TCF3::PBX1] | 1;13;41 | 2 | 3 | |
BCR::ABL1 | t(9;22)(q34;q11) [BCR::ABL1] | 15;30 | 2 | 2 | |
BCR::ABL1‐like | t(8;9)(p22;p24) [PCM1::JAK2] | 8 | 1 | 1 | |
inv(9)(p24p13) [PAX5::JAK2] | 27 | 0 | 1 | ||
t(1;5)(q22;q32) [MEF2D::CSF1R] | 14 | 0 | 1 | ||
CRLF2 rearrangements | t(X;14)(p22.33;q32) [IGH::CRLF2] | 38 | 1 | 1 | |
ZNF384 rearrangements | t(12;22)(p13.31;q13.2) [EP300::ZNF384] | 2 | 0 | 1 | |
PAX5 rearrangements | dic(9;20)(p13;q11) [PAX5::ASXL1] | 39 | 0 | 1 | |
t(3;9)(p13;p13.2) [PAX5::FOXP1] | 6 | 0 | 1 | ||
ins(9;?)(p13.2;?) [PAX5::ZNF318] | 34 | 0 | 1 | ||
iAMP21 | iAMP21 | 17 | 1 | 1 | |
T‐ALL | TAL1 deregulation | STIL::TAL1 | 19;23 | 2 | 2 |
IGH::TAL1 | 5 | 0 | 1 | ||
LMO2 deregulation | t(11;14)(p13;q11) [TRA::LMO2] | 19 | 1 | 1 | |
t(7;11)(q34;p13) [TRB::LMO2] | 22 | 1 | 1 | ||
TLX1 (HOX11) deregulation | t(7;10)(q34;q24) [TRB::TLX1] | 42 | 0 | 1 | |
TLX3 (HOX11L2) deregulation | t(5;14)(q35;q32) [BCL11B::TLX3] | 24 | 1 | 1 | |
HOXA10 deregulation | inv(7)(p15q34) [TRB::HOXA10] | 11 | 1 | 1 | |
t(7;7)(p15.2;q34) [TRB::HIBADH] | 28 | 0 | 1 | ||
Subtotal recurrent SVs | 17/27 | 27/27 | |||
B‐ALL | Aneuploidy | High hyperdiploidy | 7;18;32;35;37 | 5 | 5 |
Low hypodiploidy | 12;16 | 2 | 1 | ||
Total | 24/34 | 33/34 |
adapted from Iacobucci I, Mullighan CG. Genetic Basis of Acute Lymphoblastic Leukemia. J Clin Oncol 2017;35(9):975–983.