Molecular Monitoring in Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with the Variant e13a3 BCR-ABL1 Fusion

Autor: Mireille Crampe, Laura Kearney, David O’Brien, C. Larry Bacon, Derville O’Shea, Stephen E. Langabeer
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Case Reports in Hematology, Vol 2019 (2019)
Druh dokumentu: article
ISSN: 2090-6560
2090-6579
DOI: 10.1155/2019/9635070
Popis: Monitoring BCR-ABL1 transcript levels in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) is a widely adopted method to assess response to therapy. However, a small minority of Ph+ ALL patients express variant BCR-ABL1 transcript types, usually due to splicing of alternative BCR or ABL1 exons. Whether patients expressing these rare, variant BCR-ABL1 transcripts have a distinct phenotype or response to therapy is not known due to the limited number of reported cases. Here, we report the presenting features of Ph+ ALL in a young adult with a variant e13a3 BCR-ABL1 fusion. Molecular monitoring reflected the disease response from diagnosis through allogeneic stem cell transplantation which resulted in undetectable e13a3 BCR-ABL1 transcripts. This case highlights the value of molecular monitoring in Ph+ ALL patients with variant BCR-ABL1 transcripts and the requirement for standardization of such assays.
Databáze: Directory of Open Access Journals
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