PMID- 38220149
OWN - NLM
STAT- MEDLINE
DCOM- 20240116
LR  - 20240116
IS  - 0485-1439 (Print)
IS  - 0485-1439 (Linking)
VI  - 64
IP  - 12
DP  - 2023
TI  - [Acute myeloid leukemia with type I CBFB::MYH11 fusion gene not detected by 
      screening test for leukemia-related chimeric genes].
PG  - 1503-1507
LID - 10.11406/rinketsu.64.1503 [doi]
AB  - A 27-year-old woman with pancytopenia was admitted to our hospital. Bone marrow 
      aspiration revealed 52.2% myeloperoxidase-positive myeloblasts, leading to a 
      diagnosis of acute myeloid leukemia. While a screening test for chimeric genes 
      related to leukemia initially yielded negative results, including for the 
      CBFB::MYH11 fusion gene, G-banded karyotyping uncovered the presence of inv 
      (16)(p13.1q22). Further investigation by fluorescence in situ hybridization 
      (FISH) confirmed the split signals for CBFB. A second screening test for 
      leukemia-related chimeric genes with different PCR primers revealed the elusive 
      CBFB::MYH11 fusion gene. Subsequently, the type I CBFB::MYH11 fusion gene was 
      identified through exhaustive exploration using RNA sequencing for fusion gene 
      discovery. This exceptional case highlights the existence of a distinctive 
      subtype of CBFB::MYH11 that may yield false-negative results in conventional 
      chimeric fusion screening, thus emphasizing the indispensable utility of PCR 
      primer modification, FISH, and RNA sequencing in the investigative process.
FAU - Utsumi, Sae
AU  - Utsumi S
AD  - Department of Hematology, Hamanomachi Hospital.
FAU - Shima, Takahiro
AU  - Shima T
AD  - Department of Hematology, Hamanomachi Hospital.
AD  - Department of Medicine and Biosystemic Science, Kyushu University Graduate School 
      of Medical Sciences.
FAU - Kubara, Chiaki
AU  - Kubara C
AD  - Department of Hematology, Hamanomachi Hospital.
AD  - Department of Medicine and Biosystemic Science, Kyushu University Graduate School 
      of Medical Sciences.
FAU - Semba, Yuichiro
AU  - Semba Y
AD  - Department of Medicine and Biosystemic Science, Kyushu University Graduate School 
      of Medical Sciences.
AD  - Division of Precision Medicine, Kyushu University Graduate School of Medical 
      Sciences.
FAU - Hayashi, Masayasu
AU  - Hayashi M
AD  - Department of Hematology, Hamanomachi Hospital.
FAU - Takigawa, Ken
AU  - Takigawa K
AD  - Department of Hematology, Hamanomachi Hospital.
FAU - Yoshino, Teruhiko
AU  - Yoshino T
AD  - Department of Hematology, Hamanomachi Hospital.
FAU - Minami, Mariko
AU  - Minami M
AD  - Department of Hematology, Hamanomachi Hospital.
FAU - Matsuo, Yayoi
AU  - Matsuo Y
AD  - Department of Hematology, Hamanomachi Hospital.
FAU - Kuriyama, Takuro
AU  - Kuriyama T
AD  - Department of Hematology, Hamanomachi Hospital.
FAU - Akashi, Koichi
AU  - Akashi K
AD  - Department of Medicine and Biosystemic Science, Kyushu University Graduate School 
      of Medical Sciences.
FAU - Maeda, Takahiro
AU  - Maeda T
AD  - Division of Precision Medicine, Kyushu University Graduate School of Medical 
      Sciences.
FAU - Taniguchi, Shuichi
AU  - Taniguchi S
AD  - Department of Hematology, Hamanomachi Hospital.
FAU - Eto, Tetsuya
AU  - Eto T
AD  - Department of Hematology, Hamanomachi Hospital.
LA  - jpn
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PL  - Japan
TA  - Rinsho Ketsueki
JT  - [Rinsho ketsueki] The Japanese journal of clinical hematology
JID - 2984782R
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (CBFB protein, human)
RN  - 0 (Core Binding Factor beta Subunit)
RN  - 0 (MYH11 protein, human)
RN  - EC 3.6.4.1 (Myosin Heavy Chains)
SB  - IM
MH  - Female
MH  - Humans
MH  - Adult
MH  - In Situ Hybridization, Fluorescence
MH  - *Leukemia, Myeloid, Acute/diagnosis/genetics
MH  - Karyotyping
MH  - Oncogene Proteins, Fusion/genetics
MH  - Core Binding Factor beta Subunit/genetics
MH  - Myosin Heavy Chains/genetics
OTO - NOTNLM
OT  - Screening test for leukemia-related chimeric genes
OT  - Type I CBFB::MYH11
OT  - inv (16)(p13.1q22)
EDAT- 2024/01/15 00:42
MHDA- 2024/01/16 06:42
CRDT- 2024/01/14 20:22
PHST- 2024/01/16 06:42 [medline]
PHST- 2024/01/15 00:42 [pubmed]
PHST- 2024/01/14 20:22 [entrez]
AID - 10.11406/rinketsu.64.1503 [doi]
PST - ppublish
SO  - Rinsho Ketsueki. 2023;64(12):1503-1507. doi: 10.11406/rinketsu.64.1503.