A case of CALR mutation in JAK2-negative patient with polycythemia

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Abstract

JAK2 mutations can be associated with any phenotypic form of chronic myeloproliferative neoplasia, while MPL and CALR mutations occur, as a rule, in cases of essential thrombocythemia and primary myelofibrosis and they are not observed in polycythemia vera. In this article we describe a clinical case of CALR mutation (c.1154_1155insGTGTC; p.E386fs*46) presence in a JAK2-negative polycythemia vera patient at age 36. In January 2018 changes in his hemogramm were recorded for the first time. In June 2018, based on a diagnostic study of bone marrow trepanobiopsy, a diagnosis of polycythemia vera was made. Molecular genetic study of the patient’s DNA didn’t reveal mutations in the JAK2 (12 and 14 exons) and the MPL genes. CALR mutation was revealed during the screening by heteroduplex analysis with the electrophoresis in polyacrylamide gel. Then the mutation was identified by Sanger’s DNA sequencing as с.1154_1155insGTGTC; p.E386fs*46. The allelic burden level as determined by pyrosequencing was 20 % (June 2018). In conclusion we can suppose that the revealed CALR mutation с.1154_1155insGTGTC; p.E386fs*46 plays its role in our patient’s polycythemia phenotype.

About the authors

T. N. Subbotina

Siberian Federal University; Federal Siberian Research and Clinical Center of the Federal Medical and Biological Agency

Author for correspondence.
Email: stn.25@mail.ru
ORCID iD: 0000-0001-7790-5033

660041, Krasnoyarsk, Svobodnyy Prospekt, 79
660037, Krasnoyarsk, Kolomenskaya St., 26

Russian Federation

I. E. Maslyukova

Siberian Federal University

ORCID iD: 0000-0003-1323-2612

660041, Krasnoyarsk, Svobodnyy Prospekt, 79

Russian Federation

D. V. Kurochkin

Siberian Federal University

ORCID iD: 0000-0003-1063-7702

660041, Krasnoyarsk, Svobodnyy Prospekt, 79

Russian Federation

M. A. Mikhalev

Regional Clinical Hospita

ORCID iD: 0000-0003-3769-3405

660022, Krasnoyarsk, Partizana Zheleznyaka St., 3A

Russian Federation

M. G. Osadchaya

Krasnoyarsk Interdistrict Polyclinic No. 1

ORCID iD: 0000-0002-4942-4299

660003, Krasnoyarsk, 4 Akademika Pavlova St., Build. 7

Russian Federation

V. A. Khorzhevskiy

Krasnoyarsk State Regional Bureau of Pathology

ORCID iD: 0000-0002-9196-7246

660022, Krasnoyarsk, Partizana Zheleznyaka St., 3D

Russian Federation

T. A. Garkusha

Krasnoyarsk State Regional Bureau of Pathology

ORCID iD: 0000-0002-3343-6973

660022, Krasnoyarsk, Partizana Zheleznyaka St., 3D

Russian Federation

E. A. Dunaeva

Central Research Institute of Epidemiology of the Federal Service on Customers’ Rights Protection and Human Well-being Surveillance

ORCID iD: 0000-0002-4477-8506

111123, Moscow, Novogireevskaya St., 3A

Russian Federation

K. O. Mironov

Central Research Institute of Epidemiology of the Federal Service on Customers’ Rights Protection and Human Well-being Surveillance

ORCID iD: 0000-0001-8207-9215

111123, Moscow, Novogireevskaya St., 3A

Russian Federation

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