Title:Philadelphia Chromosome Positive Chronic Myelogenous Leukemia Blastic
Crisis in a Patient with Unusual Primary Myelofibrosis Characteristics; A
Case Report
Volume: 22
Issue: 2
Author(s): Elahe Razmara Lak, Sedigheh Sharifzadeh, Mani Ramzi, Maral Mokhtari, Reza Asadpouri, Elham Abedi and Gholamhossein Tamaddon*
Affiliation:
- Diagnostic Laboratory Sciences and Technology Research Center, School of Paramedical Sciences, Shiraz
University of Medical Sciences, Shiraz, Iran
Keywords:
BCR-ABL positive chronic myeloid leukemia, myeloproliferative neoplasms, primary myelofibrosis, histiocytic necrotizing lymphadenitis, cutaneous squamous cell carcinoma, fluorescence in situ hybridization.
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.
