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Case Reports
. 2021 Oct 26:16:100277.
doi: 10.1016/j.lrr.2021.100277. eCollection 2021.

Pediatric M5 acute myeloid leukemia with MLL-SEPT6 fusion and a favorable outcome

Alain Chebly  1 , Claudia Djambas Khayat  2 , Tony Yammine  1 , Rima Korban  1 , Warde Semaan  1 , Jessica Bou Zeid  1 , Chantal Farra  1   3
Affiliations
Case Reports

Pediatric M5 acute myeloid leukemia with MLL-SEPT6 fusion and a favorable outcome

Alain Chebly et al. Leuk Res Rep. .

Erratum in

Abstract

Acute myeloid leukemia (AML) patients with MLL-SEPT6 fusion represent a small subset of AML. The uncommon MLL-SEPT6 rearrangement results from t(X;11) or other variants like ins(X;11), and it is usually associated with complex cytogenetic abnormalities. We herein report a case of AML-M5-infant with ins(X;11)(q24;q23q13) and MLL-SEPT6. The one-year-old boy presented with leukocytosis, anemia and thrombocytopenia. He had a favorable response to chemotherapy according to ELAM02protocol and is currently in complete remission. We here, highlight the occurrence of MLL-SEPT6 as the sole abnormality in a pediatric-AML-M5 case, discuss the prognostic implication of this genetic variant, while reviewing previously reported AML-MLL-SEPT6 cases.

Keywords: AML; Acute myeloid leukemia; MLL; SEPT6; Septin.

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Conflict of interest statement

The authors declare no potential conflicts of interest.

Figures

Fig. 1:
Fig. 1
(A) Bone marrow karyotype showing ins(X;11)(q24;q23q13). (B) Metaphase and interphase FISH showing one intact MLL signal (Red and Green fusion) on normal chromosome 11, one split MLL signal with red signal on abnormal chromosome X (der(X): derivative chromosome X) and green signal on abnormal chromosome 11 (der(11): derivative chromosome 11). (C) SNP array result confirming the balanced status of the ins(X;11)(q24;q23q13).
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