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Updated: Jan 20, 2026
Cytogenetics, Karyotyping and FISH
Published on: April 30, 2023
A study to determine the clinical, hematological, cytogenetic, and molecular profile in CML patient in and around
Sandip Kumar1, Vikas Kumar Gupta1, Anju Bharti1
1Department of Pathology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
Insights
This study found that most chronic myeloid leukemia (CML) patients in Eastern UP, India, are relatively young adults. The Philadelphia chromosome and BCR-ABL gene were highly prevalent in these CML cases.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Myeloproliferative disorders involve the overproduction of myeloid cells.
- Understanding the frequency of these disorders is crucial for public health planning.
Purpose of the Study:
- To characterize the clinical, hematological, cytogenetic, and molecular profiles of chronic myeloid leukemia (CML) patients in Eastern Uttar Pradesh, India.
Main Methods:
- The study included newly diagnosed and follow-up adult and pediatric myeloproliferative disorder cases.
- Comprehensive clinical examinations and laboratory investigations were performed, including complete blood counts, bone marrow aspiration/biopsy, and cytogenetic/molecular studies.
- 90 patients were enrolled, with detailed histories and physical examinations conducted.
Main Results:
- The median age of CML presentation was 37 years, with a male-to-female ratio of 1.4:1.75.
- 83% of patients were in the chronic phase (CP), 12% in accelerated phase (AP), and 5% in blast crisis (BC).
- The Philadelphia chromosome was detected in 94.2% of cases, and the BCR-ABL gene was positive in all 40 tested cases via RT-PCR.
Conclusions:
- Chronic myeloid leukemia patients in Eastern UP are predominantly young adults, typically aged 31-40 years.
- Males are more frequently affected by CML in this region.
- The high prevalence of the Philadelphia chromosome and BCR-ABL gene confirms their diagnostic significance in CML.
Introduction:
Myeloproliferative disorders are characterized by proliferation of one or more myeloid lineages cells. In order to assess the burden of these illness for public health planning, it is important to know their frequency.
Objectives:
A study to determine the clinical, hematological, cytogenetic, and molecular profile in chronic myeloid leukemia (CML) patient in and around Eastern UP, India.
Materials And Methods:
Newly diagnosed and follow-up adult and pediatric cases of myeloproliferative disorder were taken into study. Detailed history, physical, and systemic examination was done with informed consent. Investigations like complete blood count including hemoglobin level, platelet count, total and differential leucocyte count, general blood picture, and bone marrow aspiration/biopsy were done. Molecular and cytogenetic studies were also done whenever required.
Results:
In total, 90 patients were enrolled in the study. The median age of presentation of CML was 37 years and the mean age was 38.6 years. M: F ratio of 1.4:1.75 patients (83%) were in CML-chronic phase (CP), 11 patients (12%) in CML-accelerated phase (AP) phase, and 4 patients (5%) were found in CML-blast crisis (BC) phase. The common symptoms of the patients were fullness of the abdomen (66.6%). Among these 69 cases, Philadelphia chromosome was present in 65 (94.2%) cases. Revers transcriptase polymerase chain reaction (RT-PCR) was done in 40 out of 90 cases, breakpoint cluster region (BCR)-Abelson oncogene (ABL) gene came out to be positive in all the 40 cases.
Conclusion:
Most CML patients in eastern UP (India) are relatively young (31-40 years). In addition, males were more commonly affected.
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