PMID- 31550809
OWN - NLM
STAT- MEDLINE
DCOM- 20191002
LR  - 20191002
IS  - 0376-2491 (Print)
IS  - 0376-2491 (Linking)
VI  - 99
IP  - 36
DP  - 2019 Sep 24
TI  - [Genetic characteristics and clinical outcomes of pediatric acute myeloid 
      leukemia with NUP98-NSD1 fusion gene].
PG  - 2820-2825
LID - 10.3760/cma.j.issn.0376-2491.2019.36.005 [doi]
AB  - Objective: To investigate the genetic characteristics and clinical outcomes of 
      pediatric acute myeloid leukemia patients with NUP98-NSD1 fusion gene. Methods: A 
      total of 80 pediatric AML patients were enrolled in this study, and bone marrow 
      specimens were collected at initial diagnosis and relapse. NUP98-NSD1 was 
      screened by fluorescence in situ hybridization (FISH) and PCR. Other laboratory 
      test results and clinical outcomes were further analyzed for the NUP98-NSD1 
      positive cases. Results: A total of eight patients (10.0%) were positive for 
      NUP98-NSD1, which were all fusions of NUP98 exon12 and NSD1 exon 6. There were 
      two M2, three M4, and three M5 cases according to the French-American-British 
      classification. Seven patients had karyotype results at the time of initial 
      diagnosis, and none of them had complicated karyotype abnormalities. Among these 
      patients, two cases had normal karyotype, three cases had trisomy 8, one case had 
      trisomy 6, and two cases had anomalies involving 9q13 or 9q21. Additional 
      karyotypic abnormalities and clonal evolutions were observed during disease 
      progression or relapse, five cases had 9q13 or 9q32 abnormalities. Five cases 
      (62.5%) were positive with FLT3-ITD mutation. Patients were treated with 
      DAE/NAE/HAE/IA chemotherapy. Three cases did not achieve remission after several 
      courses of chemotherapy, and five cases achieved remission but relapsed in 1 to 
      19 months. Five cases underwent salvage allogeneic hematopoietic stem cell 
      transplantation (allo-HSCT). Among whom, four died in 40 days to 4 months after 
      transplantation, and one survived 8.5 months till the last follow-up. 
      Conclusions: NUP98-NSD1 is a recurrent genetic abnormality with significant 
      clinical prognostic significance, and this group of disease has unique clinical 
      and genetic characteristics. NUP98-NSD1 should be screened by FISH or PCR for 
      children with AML who are newly diagnosed or refractory and relapsed to identify 
      the high-risk genetic marker.
FAU - Wang, T
AU  - Wang T
AD  - Department of Pathology & Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, 
      Langfang 065201, China.
FAU - Ni, J B
AU  - Ni JB
AD  - Department of Pathology & Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, 
      Langfang 065201, China.
FAU - Wang, X Y
AU  - Wang XY
AD  - Department of Pathology & Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, 
      Langfang 065201, China.
FAU - Dai, Y
AU  - Dai Y
AD  - Department of Pathology & Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, 
      Langfang 065201, China.
FAU - Ma, X L
AU  - Ma XL
AD  - Department of Pathology & Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, 
      Langfang 065201, China.
FAU - Su, Y C
AU  - Su YC
AD  - Department of Pathology & Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, 
      Langfang 065201, China.
FAU - Gao, Y Y
AU  - Gao YY
AD  - Department of Pathology & Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, 
      Langfang 065201, China.
FAU - Chen, X
AU  - Chen X
AD  - Department of Pathology & Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, 
      Langfang 065201, China.
FAU - Yuan, L L
AU  - Yuan LL
AD  - Department of Pathology & Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, 
      Langfang 065201, China.
FAU - Liu, H X
AU  - Liu HX
AD  - Beijing Lu Daopei Institute of Hematology, Beijing 100176, China.
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Za Zhi
JT  - Zhonghua yi xue za zhi
JID - 7511141
RN  - 0 (NUP98-NSD1 protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
SB  - IM
MH  - Child
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Leukemia, Myeloid, Acute/genetics
MH  - Mutation
MH  - Oncogene Proteins, Fusion/*genetics
OTO - NOTNLM
OT  - Child
OT  - Gene fusion
OT  - Hematopoietic stem cell transplantation
OT  - Leukemia, myeloid, acute
EDAT- 2019/09/26 06:00
MHDA- 2019/10/03 06:00
CRDT- 2019/09/25 06:00
PHST- 2019/09/25 06:00 [entrez]
PHST- 2019/09/26 06:00 [pubmed]
PHST- 2019/10/03 06:00 [medline]
AID - 10.3760/cma.j.issn.0376-2491.2019.36.005 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Za Zhi. 2019 Sep 24;99(36):2820-2825. doi: 
      10.3760/cma.j.issn.0376-2491.2019.36.005.