Related Experiment Video
Updated: Aug 22, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis
Patricia Gargallo1, Anne Hagemeijer, Patricia Vassallu
1Departamento de Genética, Instituto de Investigaciones Hematológicas Mariano R.Castex, Academia Nacional de Medicina, Pacheco de Melo 3081, 1425 Buenos Aires, Argentina.
Abstract:
We report a case of essential thrombocythemia (ET) in a 39-year-old woman who developed myelofibrosis at follow-up. The cytogenetic and fluorescence in situ hybridization analyses revealed a pathologic clone with the following previously unreported karyotype: 46,XX,ins(4;11)(q27;q24q21). We cannot conclude that the presence of this inverted insertion was associated with the overproduction of platelets, but documentation of more cases with chromosomal abnormalities and ET should lead to identifying different candidate genes involved in the neoplastic growth.
Related Concept Videos
Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Bone Marrow Sampling and Transplants
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy the...

