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• W2766241567 abstract "Abstract Background 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 are not always consistent with those of reverse transcription–polymerase chain reaction ( RT ‐ PCR ), and more accurate and rapid methods are required. Methods A total of 487 samples from de novo AML patients enrolled in the Japanese Pediatric Leukemia/Lymphoma Study Group ( JPLSG ) AML ‐05 study ( n = 448), and from acute promyelocytic leukemia ( APL ) patients enrolled in the JPLSG AML ‐P05 study ( n = 39) were available for this investigation. Multiplex quantitative RT ‐ PCR was performed to 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 , and PML‐RARA . Results Fusion genes were detected in 207 (46.2%) of the 448 AML ‐05 patient samples. After exclusion of two samples with PML ‐ RARA , no chromosomal abnormalities were identified on karyotyping in 19 of 205 patients (9.3%) positive for fusion genes on RT ‐ PCR . Fusion genes were confirmed on fluorescence in situ hybridization ( FISH ) in 11 of these 19 patients. In contrast, fusion genes were detected in 37 of 39 patients (94.9%) from the AML ‐P05 study, and 33 of these results were consistent with the karyotyping. There were discrepancies in four patients (10.8%), three with normal karyotypes and one in whom karyotyping was not possible. All four of these patients were PML ‐ RARA positive on FISH . Conclusions Multiplex quantitative RT ‐ PCR ‐based fusion gene screening may be effective for diagnosis of pediatric AML ." @default.
• W2766241567 created "2017-11-10" @default.
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• W2766241567 date "2018-01-01" @default.
• W2766241567 modified "2023-10-16" @default.
• W2766241567 title "Multiplex fusion gene testing in pediatric acute myeloid leukemia" @default.
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• W2766241567 doi "https://doi.org/10.1111/ped.13451" @default.
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