Daniel Rivera, Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas; Department of Pathology and Laboratory Medicine, The University of Texas Health Science Center at Houston, Houston, Texas.
Wei Cui, Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas.
Juehua Gao, Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Deniz Peker, Department of Pathology and Laboratory Medicine, Emory University, Atlanta, Georgia.
Qian-Yun Zhang, Department of Pathology, University of New Mexico, Albuquerque, New Mexico.
Rajan Dewar, Mclaren Health Care, Lansing, Michigan.
Lianqun Qiu, Department of Laboratory Medicine and Pathology, University of Washington Medicine, Seattle, Washington.
Sergej Konoplev, Cairo Diagnostics Laboratory, West Harrison, New York.
Zhihong Hu, Department of Laboratory Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Koji Sasaki, Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Aileen Y. Hu, Baylor College of Medicine, Houston, Texas.
Shuyu E, Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Meng Liu, Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Hong Fang, Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Wei Wang, Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Guilin Tang, Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Jane F Apperley, Centre for Haematology, Imperial College London, United Kingdom.
Andreas Hochhaus, Department of Hematology/Oncology, Universitätsklinikum Jena, Jena, Germany.
Jorge E. Cortes, Georgia Cancer Center, Augusta University, Augusta, Georgia.
Joseph D. Khoury, Department of Pathology, Microbiology, and Immunology, University of Nebraska Medical Center, Omaha, Nebraska.
L Jeffrey Medeiros, Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Elias Jabbour, Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Shimin Hu, Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas.Follow

Document Type

Article

Publication Date

12-15-2023

Abstract

Chronic myeloid leukemia (CML) is characterized by leukocytosis with left-shifted neutrophilia, basophilia, eosinophilia, and variable thrombocytosis. However, extremely rare cases of patients with CML without significant leukocytosis and thrombocytosis (aleukemic phase [ALP] CML, or CML-ALP) have been reported. Due to its rarity and limited awareness, there remains a significant knowledge gap concerning the pathologic diagnosis, disease progression, and optimal patient management and outcomes. In this multi-institutional study, we investigated 31 patients with CML-ALP. Over half (54.8%) of patients had a history of or concurrent hematopoietic or nonhematopoietic malignancies. At time of diagnosis of CML-ALP, approximately 26.7% of patients exhibited neutrophilia, 56.7% had basophilia, and 13.3% showed eosinophilia. The median number of metaphases positive for t(9;22)(q34;q11.2) was 15, with a median of 38.5% of interphase nuclei positive for BCR::ABL1 by fluorescence in situ hybridization. The median BCR::ABL1 level was 26.14%. Remarkably, 14 (45.2%) patients were initially misdiagnosed or not diagnosed before karyotype or fluorescence in situ hybridization information for BCR::ABL1 became available. Twenty-five patients received tyrosine kinase inhibitors (TKIs). One patient developed blast crisis while on TKI treatment 8 months after initial diagnosis. With a median follow-up time of 46.1 months, 20 of 22 patients who received TKI therapy and had detailed follow-up information achieved complete cytogenetic remission or deeper, 15 achieved major molecular remission or deeper, and 10 achieved molecularly undetectable leukemia. In conclusion, given the frequent occurrence of prior or concurrent malignancies, aleukemic presentation, and low level of t(9;22)(q34;q11.2)/BCR::ABL1, misdiagnosis or delayed diagnosis is common among these patients. While these patients generally respond well to TKIs, rare patients may develop blastic transformation. It is therefore important for pathologists and hematologists to be aware of this highly unusual presentation of CML to ensure timely diagnosis and appropriate management.

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