Philadelphia Chromosome Positive Chronic Myelogenous Leukemia Blastic Crisis in A Patient with Unusual Primary Myelofibrosis Characteristics; A Case Report

Elahe Razmara Lak; Sedigheh Sharifzadeh; Mani Ramzi; Maral Mokhtari; Reza Asadpouri; Elham Abedi; Gholamhossein Tamaddon

doi:10.2174/1871525721666230614110621

Philadelphia Chromosome Positive Chronic Myelogenous Leukemia Blastic Crisis in A Patient with Unusual Primary Myelofibrosis Characteristics; A Case Report

Cardiovasc Hematol Agents Med Chem. 2023 Jun 14. doi: 10.2174/1871525721666230614110621. Online ahead of print.

Authors

Elahe Razmara Lak¹, Sedigheh Sharifzadeh², Mani Ramzi³, Maral Mokhtari⁴, Reza Asadpouri⁵, Elham Abedi³, Gholamhossein Tamaddon²

Affiliations

¹ Department of Medical Laboratory Sciences, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran.
² Diagnostic Laboratory Sciences and Technology Research Center, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran.
³ Hematology research center, Shiraz University of Medical Sciences, Shiraz, Iran.
⁴ Department of Pathology, Shahid Faghihi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
⁵ Department of Medical Parasitology, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Iran.

PMID: 37317905
DOI: 10.2174/1871525721666230614110621

Abstract

Introduction: Myeloproliferative neoplasms (MPNs) are divided into BCR-ABL positive Chronic myeloid leukemia (CML) and BCR-ABL negative MPNs including Polycythemia vera (PV), Essential Thrombocythemia (ET) and Primary myelofibrosis (PMF). Evaluation of the Philadelphia chromosome in MPNs is a diagnostic requirement for classic CML.

Case report: In 2020, a 37-year-old woman with negative cytogenetic testing for Janus kinase2 (JAK2), Calreticulin (CALR), myeloproliferative leukemia virus oncogene (MPL), and positive for BCR-ABL1 mutation with reticular fibrosis in bone marrow was diagnosed as CML. Some years ago, the patient had been diagnosed with PMF with evidence of histiocytic necrotizing lymphadenitis or Kikuchi-Fujimoto disease (KFD). The BCR-ABL fusion gene was initially evaluated which was negative. Then, Cutaneous squamous cell carcinoma (cSCC) was confirmed by Dermatopathologist with palpable splenomegaly and high white blood cell (WBC) count with basophilia. Finally, BCR-ABL was detected positive by the fluorescence in situ hybridization (FISH) and quantitative real-time polymerase chain reaction (qRT-PCR). In fact, the co-occurrence of PMF with CML was identified.

Conclusion: This case study highlighted the importance of some cytogenetic methods in the detection and classification of MPNs. It is recommended that physicians pay more attention to it and be aware of the planning treatment.

Keywords: BCR-ABL positive Chronic myeloid leukemia; Cutaneous squamous cell carcinoma; Myeloproliferative neoplasms; Primary myelofibrosis; fluorescence in situ hybridization; histiocytic necrotizing lymphadenitis.

Publication types

Case Reports