Molecular Monitoring in Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with the Variant e13a3 BCR-ABL1 Fusion. (27th June 2019)

• Record Type: Journal Article
• Authors: Crampe, Mireille; Kearney, Laura; O'Brien, David; Bacon, C. Larry; O'Shea, Derville; Langabeer, Stephen E.
• Other Names: Ohsaka Akimichi Academic Editor.
• Is Part Of: Case reports in hematology. Volume 2019(2019)
• Publication Date: 2019-06-27
• Subjects: Hematology -- Periodicals; Hematology -- Case studies -- Periodicals; Blood -- Diseases -- Periodicals; Hematology; Hematologic Diseases; Blood -- Diseases; Hematology; Electronic journals; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 616.15
• DOI: 10.1155/2019/9635070
• Languages: English
• ISSNs: 2090-6560

Abstract

Abstract : 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.