Multiplex fusion gene testing in pediatric acute myeloid leukemia

• DOI: 10.1111/ped.13451
• Publication Date: 2017-11-04T09:28:36Z
• Authors: Yuka Iijima‐Yamas...; Hidemasa Matsuo; Miho Yamada; Takao Deguchi; Nobutaka Kiyokawa; Akira Shimada; Akio Tawa; Hiroyuki Takahashi; Daisuke Tomizawa; Takashi Taga; Akitoshi Kinoshita; Souichi Adachi; Keizo Horibe
• Keywords: Multiplex; Fusion transcript

Gene abnormalities, particularly chromosome rearrangements generating gene fusion, are associated with clinical characteristics and prognosis in pediatric acute myeloid leukemia (AML). Karyotyping is generally performed to enable risk stratification, but the results not always consistent those of reverse transcription-polymerase chain reaction (RT-PCR), more accurate rapid methods required.A total 487 samples from de novo AML patients enrolled Japanese Pediatric Leukemia/Lymphoma Study Group (JPLSG) AML-05 study (n = 448), promyelocytic (APL) JPLSG AML-P05 39) were available for this investigation. Multiplex quantitative RT-PCR was detect eight important fusion genes: AML1(RUNX1)-ETO(RUNX1T1), CBFB-MYH11, MLL(KMT2A)-AF9(MLLT3), MLL-ELL, MLL-AF6(MLLT4), FUS(TLS)-ERG, NUP98-HOXA9, PML-RARA.Fusion genes detected 207 (46.2%) 448 patient samples. After exclusion two PML-RARA, no chromosomal abnormalities identified on karyotyping 19 205 (9.3%) positive RT-PCR. Fusion confirmed fluorescence situ hybridization (FISH) 11 these patients. In contrast, 37 39 (94.9%) study, 33 karyotyping. There discrepancies four (10.8%), three normal karyotypes one whom possible. All PML-RARA FISH.Multiplex RT-PCR-based screening may be effective diagnosis AML.