PMC8566899_01
(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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Karyotype analysis showed in both cultures an apparently balanced insertion of an 11q segment into the long arm of chromosome X: 46,Y,ins(X;11)(q24;q23q13)[12]/46,XY[3] (Fig. 1A). MLL signal indicating the involvement of MLL gene in the ins(X;11) rearrangement (Fig. 1B). Molecular analysis using the Leukemia Fusion Genes (Q30) Screening Kit (QuanDx, USA) detected the presence of an MLL-SEPT6 fusion transcript in the processed bone marrow sample. SNP array CytoScan 750 K (Affymetrix, USA) was performed. SNP data analysis confirmed the balanced status of the ins(X;11), and showed no other chromosome gain or loss (Fig. 1C).