SHM Converge Scientific Abstract ePoster Gallery-Chronic Myeloid Leukemia With Blast Crisis and De Novo Acute Myeloid Leukemia With Bcr::abl1 Translocation: A Case Study Highlighting Diagnostic Pitfalls and Treatment Implications

Chronic Myeloid Leukemia With Blast Crisis and De Novo Acute Myeloid Leukemia With Bcr::abl1 Translocation: A Case Study Highlighting Diagnostic Pitfalls and Treatment Implications

Back to course

Pdf Summary

This case report describes a 63-year-old woman who presented with abdominal pain, nausea, fatigue, leukocytosis, hepatosplenomegaly, and a pleural effusion. Initial blood smear and bone marrow findings showed circulating blasts, marrow fibrosis, and abnormal megakaryocytic features, leading to a provisional diagnosis of acute myeloid leukemia (AML). Flow cytometry supported AML, so she was started on standard induction chemotherapy with cytarabine and daunorubicin.<br /><br />However, later cytogenetic and molecular testing revealed the Philadelphia chromosome t(9;22) and BCR::ABL1 fusion transcripts (p210 and a small p190 transcript), indicating that the disease was more consistent with chronic myeloid leukemia (CML) in blast crisis rather than de novo AML. Post-induction marrow showed persistent disease, and treatment was changed to dasatinib, a tyrosine kinase inhibitor (TKI), with significant clinical improvement.<br /><br />The report highlights a major diagnostic pitfall: CML blast crisis can resemble BCR::ABL1-positive AML, especially when there is no prior history of CML. Histopathology may suggest CML, but similar findings can also appear in Philadelphia chromosome-positive AML or ALL. The authors emphasize that integrating clinical history, morphology, cytogenetics, and molecular data is essential for accurate diagnosis.<br /><br />The key treatment implication is that CML blast crisis generally responds better to TKI-based therapy than to conventional AML chemotherapy. An initial misclassification may lead to unnecessary toxicity, delayed effective treatment, and prolonged hospitalization. The case underscores the value of baseline laboratory data from prior care, if available, and demonstrates the clinical benefit of switching to targeted therapy once the correct diagnosis is established.

Asset Subtitle

Reesha Bodiwala

Meta Tag

Author List Adamsegd Gebremedhen, Jowan Al-Nusair, Mohamed Alshal, Muhammad Jamil, Reesha Bodiwala, Saadia Haleema, Yury Kachynski

Category Clinical Vignettes

Concept Chronic Myeloid Leukemia

Concept Blast Crisis

Concept BCRABL1-Positive Acute Myeloid Leukemia

Concept BCRABL1 Fusion

Concept Tyrosine Kinase Inhibitor

Distinguished Non-Finalist

Presenter Organization Marshall University JCESOM, Marshall University Internal Medicine & Pediatrics Residency Program

Presenting Author Reesha Bodiwala

Track Adult

Keywords

CML blast crisis

acute myeloid leukemia

Philadelphia chromosome

BCR::ABL1 fusion

tyrosine kinase inhibitor

dasatinib

cytogenetics

bone marrow fibrosis

flow cytometry

BCR::ABL1-positive AML

Chronic Myeloid Leukemia

Blast Crisis

BCRABL1-Positive Acute Myeloid Leukemia

BCRABL1 Fusion

Tyrosine Kinase Inhibitor