A Rare Chromosome Abnormality with der(16)t(1;16)(q12;q11.2) in Blast Crisis of Chronic Myeloid Leukemia.
Additional chromosomal abnormality
Blast crisis
Chronic myeloid leukemia
Genetic instability
t(1;16)(q12;q11.2)
Journal
Case reports in oncology
ISSN: 1662-6575
Titre abrégé: Case Rep Oncol
Pays: Switzerland
ID NLM: 101517601
Informations de publication
Date de publication:
Historique:
received:
23
06
2020
accepted:
24
06
2020
entrez:
1
10
2020
pubmed:
2
10
2020
medline:
2
10
2020
Statut:
epublish
Résumé
Although tyrosine kinase inhibitors markedly improve the clinical outcome of chronic myeloid leukemia (CML), blast crisis in CML (CML-BC) still has a poor prognosis. Many chromosomal abnormalities have been reported in CML-BC and may contribute to therapeutic resistance, disease progression, and prognosis. Herein, we report a rare chromosome abnormality with der(16)t(1;16)(q12;q11.2) in CML-BC. It has been demonstrated that this chromosomal abnormality is associated with disease progression and poor prognosis in other malignancies, such as Ewing sarcoma. A 70-year-old man with CML who had been treated with imatinib and dasatinib was admitted to our hospital after complaining for several weeks of fatigue and dyspnea and diagnosed with CML-BC. His tumor cells presented additional chromosomal abnormality with der(16)t(1;16)(q12;q11.2), which has never been reported in CML cases. We successfully treated him using cytotoxic agents combined with ponatinib, and this chromosome abnormality was detected via G-banding. Our patient has lived for over 8 months without any progression with ponatinib treatment alone. Although the biological function of this chromosomal abnormality remains unclear, the satellite DNA of 1q12, which induces genomic instability in other malignancies, and the loss of 16q may contribute to the disease progression of CML in this case. In conclusion, this paper is the first to report on the case of CML-BC with der(16)t(1;16)(q12;q11.2).
Identifiants
pubmed: 32999666
doi: 10.1159/000509642
pii: cro-0013-1020
pmc: PMC7506380
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1020-1025Informations de copyright
Copyright © 2020 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare related to this case report.
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