PMID- 38493578
OWN - NLM
STAT- Publisher
LR  - 20240317
IS  - 2210-7762 (Print)
VI  - 284-285
DP  - 2024 Mar 12
TI  - Rare NUP98::PRRX1 fusion transcript in a therapy-related acute myeloid leukemia 
      associated with del(7q) following chemotherapy for diffuse large B-cell lymphoma.
PG  - 12-15
LID - S2210-7762(24)00003-6 [pii]
LID - 10.1016/j.cancergen.2024.03.004 [doi]
AB  - BACKGROUND: Therapy-related acute myeloid leukemia (t-AML) is increasingly 
      recognized as a treatment complication in patients receiving chemotherapy, 
      radiotherapy, or immunosuppressive agents for primary neoplasms. NUP98::PRRX1 
      fusion gene, caused by t(1;11)(q23;p15), is a rare recurrent cytogenetic 
      alteration in leukemia, and only seven cases with NUP98::PRRX1 were reported so 
      far. METHODS: A 53-year-old female patient was diagnosed with t-AML after 20 
      months of complete remission (CR) from diffuse large B-cell lymphoma (DLBCL). 
      Conventional karyotype, fluorescence in situ hybridization (FISH), and DNA/RNA 
      next-generation sequence (NGS) were used to detect genetic abnormalities. 
      RESULTS: Abnormal karyotype of 46, XX, t(1;11)(q25;p15), del(7)(q22) was 
      revealed. NUP98 gene rearrangement and del(7)(q22) were verified by FISH. 
      Further, RNA NGS detected NUP98::PRRX1 fusion transcript, and DNA NGS detected 
      KRAS gene mutation. The patient achieved CR after a combined chemotherapy regimen 
      containing BCL-2 inhibitor and underwent allogeneic hematopoietic stem cell 
      transplantation (allo-HSCT), but she died of leukemia recurrence 14 months later. 
      CONCLUSIONS: Novel targeted drugs may provide opportunities for patients with 
      NUP98::PRRX1 to undergo allo-HSCT. However, since the cases of carrying the 
      NUP98::PRRX1 are limited, more patients with this genetic change need to be 
      investigated to elucidate the prognostic significance.
CI  - Copyright (c) 2024 Elsevier Inc. All rights reserved.
FAU - Wang, Yanfang
AU  - Wang Y
AD  - Department of Hematology, Lymphoma Research Center, Peking University Third 
      Hospital, Beijing, China.
FAU - Zhang, Zhenhao
AU  - Zhang Z
AD  - Department of Hematology, Lymphoma Research Center, Peking University Third 
      Hospital, Beijing, China.
FAU - Wang, Lingli
AU  - Wang L
AD  - Department of Hematology, Lymphoma Research Center, Peking University Third 
      Hospital, Beijing, China.
FAU - Wang, Hua
AU  - Wang H
AD  - Department of Hematology, Lymphoma Research Center, Peking University Third 
      Hospital, Beijing, China.
FAU - Dong, Fei
AU  - Dong F
AD  - Department of Hematology, Lymphoma Research Center, Peking University Third 
      Hospital, Beijing, China. Electronic address: knowflying7979@163.com.
LA  - eng
PT  - Journal Article
DEP - 20240312
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
SB  - IM
OTO - NOTNLM
OT  - 7q Deletion
OT  - Cytotoxic drug
OT  - NUP98
OT  - NUP98::PRRX1
OT  - Therapy-related acute myeloid leukemia
COIS- Declaration of competing interest The authors declare that they have no known 
      competing financial interests or personal relationships that could have appeared 
      to influence the work reported in this paper.
EDAT- 2024/03/18 00:42
MHDA- 2024/03/18 00:42
CRDT- 2024/03/17 19:06
PHST- 2023/01/11 00:00 [received]
PHST- 2024/01/02 00:00 [revised]
PHST- 2024/03/06 00:00 [accepted]
PHST- 2024/03/18 00:42 [medline]
PHST- 2024/03/18 00:42 [pubmed]
PHST- 2024/03/17 19:06 [entrez]
AID - S2210-7762(24)00003-6 [pii]
AID - 10.1016/j.cancergen.2024.03.004 [doi]
PST - aheadofprint
SO  - Cancer Genet. 2024 Mar 12;284-285:12-15. doi: 10.1016/j.cancergen.2024.03.004.