Genetic alterations in patients with chronic leucocytosis and persistent thrombocytosis

Area of Science:

• Hematology
• Oncology
• Genetics

Background:

• Chronic leucocytosis and persistent thrombocytosis are conditions requiring investigation into underlying genetic drivers.
• Identifying genetic alterations is crucial for understanding disease progression and potential therapeutic targets in hematologic neoplasms.

Purpose of the Study:

• To investigate the relevance of genetic alterations in patients presenting with chronic leucocytosis and persistent thrombocytosis.
• To correlate specific gene mutations with the development and progression of hematologic neoplasms.

Main Methods:

• Analysis of 17 genes frequently implicated in hematologic neoplasms.
• Genomic mutation screening in patient cohorts with chronic leucocytosis and persistent thrombocytosis.

Main Results:

• Mutations in JAK2, SETBP1, and ASXL1 genes were identified in leucocytosis patients.
• Mutations in JAK2, CALR, SETBP1, and ASXL1 genes were detected in thrombocytosis patients.
• One leucocytosis patient with a JAK2 V617F mutation progressed to polycythaemia vera; another developed Philadelphia chromosome-negative chronic myeloid leukaemia (Ph(-) CML).

Conclusions:

• Genetic alterations in chronic leucocytosis patients are associated with a tendency to develop hematologic neoplasms.
• Persistent thrombocytosis showed unexpected resolution in some patients with identified genetic mutations, warranting further investigation.