A novel fusion gene involving PDGFRB and GCC2 in a chronic eosinophilic leukemia patient harboring t(2;5)(q37;q31).
Biomarkers, Tumor
/ genetics
Bone Marrow Cells
/ metabolism
Chromosomes, Human, Pair 2
/ genetics
Chromosomes, Human, Pair 5
/ genetics
Golgi Matrix Proteins
/ genetics
Humans
Hypereosinophilic Syndrome
/ genetics
Leukemia
/ genetics
Male
Middle Aged
Oncogene Fusion
Oncogene Proteins, Fusion
/ genetics
Receptor, Platelet-Derived Growth Factor beta
/ genetics
Translocation, Genetic
GCC2
PDGFRB
chronic eosinophilic leukemia
imatinib
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
04 2019
04 2019
Historique:
received:
21
09
2018
revised:
14
12
2018
accepted:
04
01
2019
pubmed:
31
1
2019
medline:
22
5
2019
entrez:
31
1
2019
Statut:
ppublish
Résumé
Platelet-derived growth factor receptor beta (PDGFRB) rearrangement has been reported in a number of patients with chronic eosinophilic leukemia (CEL), B-acute lymphoblastic leukemia, myeloproliferative neoplasms, and juvenile myelomonocytic leukemia. Here, we report a case of CEL carrying a novel fusion gene involving PDGFRB and GRIP and coiled-coil domain containing 2 (GCC2). A 54-year-old man presenting with a cough and dyspnea was diagnosed with acute eosinophilic pneumonia. Cytogenetic analysis of the bone marrow revealed the presence of t(2;5)(q37;q31). Fluorescence in situ hybridization analysis in the peripheral blood leukocytes revealed the presence of a split signal at PDGFRB gene. Imatinib treatment was effective, and disappearance of t(2;5)(q37;q31) in the bone marrow was confirmed after three months of imatinib therapy. Whole-genome sequencing was performed in peripheral blood leukocytes collected before imatinib therapy. A novel fusion gene between exon 22 of GCC2 and exon 12 of PDGFRB was detected and the presence of GCC2-PDGFRB was confirmed by PCR. This is the first case report demonstrating the GCC2 gene as a partner of PDGFRB in the pathogenesis of CEL.
Sections du résumé
BACKGROUND
Platelet-derived growth factor receptor beta (PDGFRB) rearrangement has been reported in a number of patients with chronic eosinophilic leukemia (CEL), B-acute lymphoblastic leukemia, myeloproliferative neoplasms, and juvenile myelomonocytic leukemia. Here, we report a case of CEL carrying a novel fusion gene involving PDGFRB and GRIP and coiled-coil domain containing 2 (GCC2).
PATIENT AND METHODS
A 54-year-old man presenting with a cough and dyspnea was diagnosed with acute eosinophilic pneumonia. Cytogenetic analysis of the bone marrow revealed the presence of t(2;5)(q37;q31). Fluorescence in situ hybridization analysis in the peripheral blood leukocytes revealed the presence of a split signal at PDGFRB gene. Imatinib treatment was effective, and disappearance of t(2;5)(q37;q31) in the bone marrow was confirmed after three months of imatinib therapy. Whole-genome sequencing was performed in peripheral blood leukocytes collected before imatinib therapy.
RESULTS
A novel fusion gene between exon 22 of GCC2 and exon 12 of PDGFRB was detected and the presence of GCC2-PDGFRB was confirmed by PCR.
CONCLUSION
This is the first case report demonstrating the GCC2 gene as a partner of PDGFRB in the pathogenesis of CEL.
Identifiants
pubmed: 30697976
doi: 10.1002/mgg3.591
pmc: PMC6465652
doi:
Substances chimiques
Biomarkers, Tumor
0
GCC2 protein, human
0
Golgi Matrix Proteins
0
Oncogene Proteins, Fusion
0
PDGFRB protein, human
EC 2.7.10.1
Receptor, Platelet-Derived Growth Factor beta
EC 2.7.10.1
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e00591Informations de copyright
© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
Références
Mol Genet Genomic Med. 2019 Apr;7(4):e00591
pubmed: 30697976
Br J Haematol. 2008 Apr;141(2):200-4
pubmed: 18307562
Blood. 2014 Jun 5;123(23):3574-7
pubmed: 24687085
Hematol Oncol. 2010 Jun;28(2):93-7
pubmed: 19728396
N Engl J Med. 2002 Aug 15;347(7):481-7
pubmed: 12181402
Exp Hematol. 2000 May;28(5):584-93
pubmed: 10812249
Cancer Genet. 2017 Apr;212-213:38-44
pubmed: 28449810
J Clin Invest. 2004 Jun;113(12):1784-91
pubmed: 15199413
Exp Hematol. 2016 Mar;44(3):177-88.e5
pubmed: 26703895
Leuk Lymphoma. 2018 Oct;59(10):2506-2508
pubmed: 29384404
Oncol Lett. 2016 Jan;11(1):770-774
pubmed: 26870282
Am J Hematol. 2017 Nov;92(11):1243-1259
pubmed: 29044676
Lung Cancer. 2018 Jan;115:5-11
pubmed: 29290262
N Engl J Med. 2003 Mar 27;348(13):1201-14
pubmed: 12660384
Ann Hematol. 2017 Sep;96(9):1463-1470
pubmed: 28725989
Sci Rep. 2017 Oct 2;7(1):12510
pubmed: 28970558
Haematologica. 2012 Jul;97(7):1064-72
pubmed: 22271894
J Pathol. 2017 Nov;243(3):307-319
pubmed: 28741662
J Biol Chem. 2003 Feb 7;278(6):4216-26
pubmed: 12446665
N Engl J Med. 2017 Mar 9;376(10):917-927
pubmed: 28273028