PMID- 10958941
OWN - NLM
STAT- MEDLINE
DCOM- 20000908
LR  - 20190816
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 121
IP  - 1
DP  - 2000 Aug
TI  - A unique structural abnormality of chromosome 16 resulting in a CBF beta-MYH11 
      fusion transcript in a patient with acute myeloid leukemia, FAB M4.
PG  - 52-5
AB  - A 43-year-old female with a peripheral white cell count of 118.0 x 10(9)/L and 
      96% blasts was diagnosed with acute myeloid leukemia (AML), FAB M4. Cytogenetics, 
      performed on a bone marrow sample, revealed the following abnormal karyotype: 
      46,XX,ins(16)(q22p13.1p13. 3). Fluorescence in situ hybridization (FISH) 
      confirmed the inter-arm insertion using a probe for 16p. The result of this 
      structural rearrangement was the fusion of CBF beta to MYH11 seen commonly in 
      inv(16)(p13q22). The patient commenced high-dose intensive combination 
      chemotherapy (big ICE; Idarubicin, Cytarabine, and Etopiside). Five days post 
      chemotherapy, she developed febrile neutropenia. Despite broad spectrum 
      intravenous antibiotics and antifungal therapy, the patient died at day nine post 
      chemotherapy. This case demonstrates a previously unreported structural 
      abnormality of chromosome 16 in a patient with AML M4, which represents a third 
      mechanism to inv(16)(p13q22) and t(16;16)(p13q22) in producing the CBF beta-MYH11 
      fusion. CBF beta-MYH11 fusions masked by cryptic translocations at the 
      cytogenetic level have been detected by FISH and PCR techniques. Due to the 
      improved prognosis associated with CBF beta-MYH11 fusions compared to the 
      standard risk group for AML, its detection remains important.
FAU - O'Reilly, J
AU  - O'Reilly J
AD  - Department of Haematology, Royal Perth Hospital, Perth, Australia.
FAU - Chipper, L
AU  - Chipper L
FAU - Springall, F
AU  - Springall F
FAU - Herrmann, R
AU  - Herrmann R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (CBFbeta-MYH11 fusion protein)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA, Neoplasm)
SB  - IM
MH  - Adult
MH  - Bone Marrow/ultrastructure
MH  - Chromosome Aberrations/*genetics
MH  - Chromosome Inversion
MH  - Chromosomes, Human, Pair 16/*genetics
MH  - Female
MH  - Humans
MH  - Karyotyping
MH  - Leukemia, Myelomonocytic, Acute/*genetics
MH  - Oncogene Proteins, Fusion/*genetics
MH  - RNA, Neoplasm/analysis/genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 2000/08/26 11:00
MHDA- 2000/09/19 11:01
CRDT- 2000/08/26 11:00
PHST- 2000/08/26 11:00 [pubmed]
PHST- 2000/09/19 11:01 [medline]
PHST- 2000/08/26 11:00 [entrez]
AID - S0165-4608(00)00235-1 [pii]
AID - 10.1016/s0165-4608(00)00235-1 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2000 Aug;121(1):52-5. doi: 10.1016/s0165-4608(00)00235-1.