inv (4)(p13q13) in patient with essential thrombocythemia: A case report

Cigdem Aydin; Ozan Salim; Orhan Kemal Yucel; Levent Undar; Sibel Berker Karauzum

doi:10.1016/j.hemonc.2015.04.003

inv (4)(p13q13) in patient with essential thrombocythemia: A case report

Hematol Oncol Stem Cell Ther. 2015 Dec;8(4):181-4. doi: 10.1016/j.hemonc.2015.04.003. Epub 2015 Apr 28.

Authors

Cigdem Aydin¹, Ozan Salim², Orhan Kemal Yucel², Levent Undar², Sibel Berker Karauzum³

Affiliations

¹ Mehmet Akif Ersoy University, Bucak School of Health, Department of Nursing, Burdur, Turkey.
² Akdeniz University, Faculty of Medicine, Department of Hematology, Antalya, Turkey.
³ Akdeniz University, Faculty of Medicine, Department of Medical Biology and Genetics, Antalya, Turkey. Electronic address: sibelberker@akdeniz.edu.tr.

PMID: 25953232
DOI: 10.1016/j.hemonc.2015.04.003

Abstract

The inv (4)(p13q13) cytogenetic abnormality is uncommon in hematologic malignancies. So far, it has not been previously reported in patients with essential thrombocythemia (ET). We report a first case of ET with inv (4)(p13q13) karyotype in a 69-year-old female patient who developed myelofibrosis at follow up. Conventional cytogenetic analysis from a bone marrow sample showed 46, XX, inv (4)(p13q13) [3]/46, XX [4] at diagnosis and subsequent analysis revealed the same abnormal karyotype during the myelofibrosis phase (46, XX, inv (4)(p13q13) [13]/46, XX [26]). The prognostic significance of this chromosomal abnormality is unknown.

Keywords: Essential thrombocythemia; Myeloproliferative disorder; inv (4)(p13q13).

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Bone Marrow Cells / pathology
Chromosome Inversion*
Chromosomes, Human, Pair 4 / genetics*
Female
Humans
Karyotyping
Thrombocythemia, Essential / genetics*