Case Report

Detection of an MN1::ETV6 Gene Fusion in a Case of Acute Myeloid Leukemia with Erythroid Differentiation: A Case Report and Review of the Literature

Table 1

Summary of MN1::ETV6-positive cases observed in myeloid neoplasms.

ReferenceAge (years)SexDiagnosisKaryotypeConfirmatory method

Our case69MAML46, XY, t(12; 22)(p13; q12)WGS
Buijs et al. [10]19FAML-M447, XX, + 8, t(12; 22)(p13; q12)RT-PCR, sequencing
Chen et al. [11]53FAML-M047, XY, + 9, t(12; 22)(p13; q12)[9]/46, XY[l]RT-PCR
Nakazato et al. [12]63MAML-M246, XY, t(12; 22)(p13; q12)[20]RT-PCR, sequencing
Rosenzweig et al. [14]3MAML-DS47, XY, + 8, + 21c, t(12; 21; 22)(p13; q22; q12)RNA-Seq
Shao et al. [15]24MAML-M045, X, − Y, t(12; 22)(p13; q12)[10]RT-PCR, sequencing
Shao et al. [15]36MAML-M046, XY, t(12; 22)(p13; q12) [7]/46, XY[3]NA
Shao et al. [15]62FAML-M447, XX, + 8, t(12; 22)(p13; q12)[10]RT-PCR
Shao et al. [15]21FAML-M448, XX, + 8, t(12; 22)(p13; q12), + 22[20]RT-PCR, sequencing
Wang et al. [4]46MAML-M549, XY,   + 8, t(12; 22)(p13; q12),   +   21,   +   der(22), t(12; 22) (p13; q13)[20]/50, idem,   +   18[1]RT-PCR
Wang et al. [4]4MAML-M547, XY,   + 8, t(12; 22)(p13; q12)[1]/47, idem, der(1)t(1; 13) (p32; q12), add(2)(p21), add(9)(q13), add(13) (q12)[1]/46, idem, der(1)t(1; 13)(p32; q12), add(2) (p21), − 8, add(9)(q13), add(13)(q12) [18]/46, XY[1]RT-PCR
Nofrini et al. [13]58Ft-AML47, XX, del(5)(q13q33), + 21[3]/46, idem, − 7, t(12; 22)(p13; q12)[9]RT-PCR, sequencing
Wang et al. [4]19MMPAL (T/myeloid)47, XY,   +   8, t(12; 22)(p13; q12)[14]/46, XY[6]RT-PCR
Wang et al. [4]11MMPAL (T/myeloid)47, X, add(Y)(p11.2), t(4; 7)(q31.3; q36),   +   8, t(12; 22) (p13; q12)[17]/47, idem, del(11)(q23)[2]/47, idem, t(10; 13) (p11.2; q14)[1]RT-PCR
Wang et al. [4]60MCMML47, XY,   + 8, t(12; 22)(p13; q12), del(20)(q11.2)[20]RT-PCR
Shao et al. [15]49FCMML46, XX, t(12; 22)(p13; q12)[10]RT-PCR, sequencing
Buijs et al. [10]15MMDS46, XY, t(12; 22)(p13; q12)RT-PCR, sequencing
Vieira et al. [16]63Ft-MDS46, XX, t(12; 22)(p13; q12)[31]/46, idem, del(20) (q11q13)[9]RT-PCR
Buijs et al. [10]58MAP-CML46, XY, t(12; 22)(p13; q12)RT-PCR, sequencing

M, male; F, female; AML, acute myeloid leukemia; DS, Down syndrome; t-AML, therapy-related acute myeloid leukemia; MPAL, mixed-phenotype acute leukemia; CMML, chronic myelomonocytic leukemia; MDS, myelodysplastic syndrome; t-MDS, therapy-related myelodysplastic syndrome; AP-CML, accelerated-phase chronic myeloid leukemia; WGS, whole-genome sequencing; RT-PCR, real-time polymerase chain reaction; RNA-Seq, RNA sequencing. Age, sex, diagnosis, karyotype, and MN1::ETV6 confirmation method for myeloid neoplasms harboring MN1::ETV6 fusion.