A case of <i>CALR</i> mutation in <i>JAK2</i>-negative patient with polycythemia
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 cas...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2022-04-01
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| Series: | Онкогематология |
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| Online Access: | https://oncohematology.abvpress.ru/ongm/article/view/535 |
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| author | T. N. Subbotina I. E. Maslyukova D. V. Kurochkin M. A. Mikhalev M. G. Osadchaya V. A. Khorzhevskiy T. A. Garkusha E. A. Dunaeva K. O. Mironov |
| author_facet | T. N. Subbotina I. E. Maslyukova D. V. Kurochkin M. A. Mikhalev M. G. Osadchaya V. A. Khorzhevskiy T. A. Garkusha E. A. Dunaeva K. O. Mironov |
| author_sort | T. N. Subbotina |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-09T20:24:08Z |
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| issn | 1818-8346 2413-4023 |
| language | Russian |
| last_indexed | 2024-04-09T20:24:08Z |
| publishDate | 2022-04-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Онкогематология |
| spelling | doaj.art-47182056f2d748148f454fefc5457c9c2023-03-30T20:15:14ZrusABV-pressОнкогематология1818-83462413-40232022-04-01172303510.17650/1818-8346-2022-17-2-30-35434A case of <i>CALR</i> mutation in <i>JAK2</i>-negative patient with polycythemiaT. N. Subbotina0I. E. Maslyukova1D. V. Kurochkin2M. A. Mikhalev3M. G. Osadchaya4V. A. Khorzhevskiy5T. A. Garkusha6E. A. Dunaeva7K. O. Mironov8Siberian Federal University; Federal Siberian Research and Clinical Center of the Federal Medical and Biological AgencySiberian Federal UniversitySiberian Federal UniversityRegional Clinical HospitaKrasnoyarsk Interdistrict Polyclinic No. 1Krasnoyarsk State Regional Bureau of PathologyKrasnoyarsk State Regional Bureau of PathologyCentral Research Institute of Epidemiology of the Federal Service on Customers’ Rights Protection and Human Well-being SurveillanceCentral Research Institute of Epidemiology of the Federal Service on Customers’ Rights Protection and Human Well-being SurveillanceJAK2 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.https://oncohematology.abvpress.ru/ongm/article/view/535myeloproliferative neoplasmpolycythemia verasomatic mutations<i>jak2</i>-negative status<i>calr</i> |
| spellingShingle | T. N. Subbotina I. E. Maslyukova D. V. Kurochkin M. A. Mikhalev M. G. Osadchaya V. A. Khorzhevskiy T. A. Garkusha E. A. Dunaeva K. O. Mironov A case of <i>CALR</i> mutation in <i>JAK2</i>-negative patient with polycythemia Онкогематология myeloproliferative neoplasm polycythemia vera somatic mutations <i>jak2</i>-negative status <i>calr</i> |
| title | A case of <i>CALR</i> mutation in <i>JAK2</i>-negative patient with polycythemia |
| title_full | A case of <i>CALR</i> mutation in <i>JAK2</i>-negative patient with polycythemia |
| title_fullStr | A case of <i>CALR</i> mutation in <i>JAK2</i>-negative patient with polycythemia |
| title_full_unstemmed | A case of <i>CALR</i> mutation in <i>JAK2</i>-negative patient with polycythemia |
| title_short | A case of <i>CALR</i> mutation in <i>JAK2</i>-negative patient with polycythemia |
| title_sort | case of i calr i mutation in i jak2 i negative patient with polycythemia |
| topic | myeloproliferative neoplasm polycythemia vera somatic mutations <i>jak2</i>-negative status <i>calr</i> |
| url | https://oncohematology.abvpress.ru/ongm/article/view/535 |
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