Genomic profile of a patient with triple negative essential thrombocythemia, unresponsive to therapy: A case report and literature review

• Main Authors: Uzma Zaidi, Saba Shahid, Naveen Fatima, Shariq Ahmed, Gul Sufaida, Muhammad Nadeem, Tahir Shamsi
• Format: Article
• Language: English
• Published: Elsevier 2017-07-01
• Series: Journal of Advanced Research
• Subjects: Genomic profile; Essential thrombocythemia; JAK2; Genetic variants
• Online Access: http://www.sciencedirect.com/science/article/pii/S2090123217300462

Clonal analysis of patients with triple negative myeloproliferative neoplasm (MPN) has provided evidence of additional aberrations, including epigenetic alterations. To discover such novel genetic aberrations, patients were screened through next-generation sequencing using a myeloid sequencing panel of 54 genes using a genetic analyser. Genetic variants in 28 genes, including TET2, BCOR, BCR, and ABL1 were identified in a triple negative essential thrombocythemia (ET) patient. The individual role of some of these variants in disease pathogenesis has yet to be studied. Somatic mutations in the same genes have been reported with variable frequencies in myeloid malignancies. However, no pathogenic impact of these variants could be found; therefore, long-term follow up of patients with genetic analysis of a large cohort and the use of whole genome sequencing is required to assess the effects of these variants.