PMID- 35927023
OWN - NLM
STAT- Publisher
LR  - 20240216
IS  - 2373-2873 (Electronic)
IS  - 2373-2873 (Linking)
VI  - 8
IP  - 5
DP  - 2022 Aug 4
TI  - Detection of a GLIS3 fusion in an infant with AML refractory to chemotherapy.
LID - mcs.a006220 [pii]
LID - 10.1101/mcs.a006220 [doi]
LID - a006220
AB  - Infants diagnosed with acute myeloid leukemia (AML) frequently harbor 
      cytogenetically cryptic fusions involving KMT2A, NUP98 or GLIS2. Those with AML 
      driven specifically by CBFA2T3::GLIS2 fusions have a dismal prognosis and are 
      currently risk-stratified to receive hematopoietic stem cell transplantation 
      (HSCT) in first remission. Here we report an infant with AML who was refractory 
      to multiple lines of chemotherapy but lacked an identifiable fusion despite 
      cytogenetic, fluorescence in situ hybridization (FISH) and targeted next 
      generation sequencing (NGS) testing. Research-grade RNASeq from a relapse sample 
      revealed in-frame CBFA2T3::GLIS3 and GLIS3::CBFA2T3 fusions. A patient-derived 
      xenograft (PDX) generated from this patient has a short latency period and 
      represents a strategy to test novel agents that may be effective in this 
      aggressive subtype of AML. This report describes the first case of AML with a 
      CBFA2T3::GLIS3 fusion and highlights the need for unbiased NGS testing including 
      RNASeq at diagnosis, as patients with CBFA2T3::GLIS3 fusions should be considered 
      for HSCT in first remission.
CI  - Cold Spring Harbor Laboratory Press.
FAU - Smith, Stephen M
AU  - Smith SM
AD  - UCSF Benioff Children's Hospital Oakland; stephen.smith@ucsf.edu.
FAU - Lee, Alex
AU  - Lee A
AD  - UCSF Benioff Children's Hospital San Francisco.
FAU - Tong, Schuyler
AU  - Tong S
AD  - UCSF Benioff Children's Hospital Oakland.
FAU - Leung, Stanley
AU  - Leung S
AD  - UCSF Benioff Children's Hospital San Francisco.
FAU - Hongo, Henry
AU  - Hongo H
AD  - UCSF Benioff Children's Hospital San Francisco.
FAU - Rivera, Jose
AU  - Rivera J
AD  - UCSF Benioff Children's Hospital San Francisco.
FAU - Sweet-Cordero, Alejandro
AU  - Sweet-Cordero A
AD  - UCSF Benioff Children's Hospital San Francisco.
FAU - Michlitsch, Jennifer
AU  - Michlitsch J
AD  - UCSF Benioff Children's Hospital Oakland.
FAU - Stieglitz, Elliot
AU  - Stieglitz E
AUID- ORCID: 0000-0001-7032-4623
AD  - UCSF Benioff Children's Hospital San Francisco.
LA  - eng
GR  - T32 GM067547/GM/NIGMS NIH HHS/United States
PT  - Journal Article
DEP - 20220804
PL  - United States
TA  - Cold Spring Harb Mol Case Stud
JT  - Cold Spring Harbor molecular case studies
JID - 101660017
SB  - IM
PMC - PMC9528968
OTO - NOTNLM
OT  - Acute myeloid leukemia
OT  - Hematological neoplasm
EDAT- 2022/08/05 06:00
MHDA- 2022/08/05 06:00
PMCR- 2022/08/01
CRDT- 2022/08/04 21:42
PHST- 2022/05/17 00:00 [received]
PHST- 2022/07/21 00:00 [accepted]
PHST- 2022/08/05 06:00 [pubmed]
PHST- 2022/08/05 06:00 [medline]
PHST- 2022/08/04 21:42 [entrez]
PHST- 2022/08/01 00:00 [pmc-release]
AID - mcs.a006220 [pii]
AID - 10.1101/mcs.a006220 [doi]
PST - aheadofprint
SO  - Cold Spring Harb Mol Case Stud. 2022 Aug 4;8(5):a006220. doi: 
      10.1101/mcs.a006220.