The characteristics of <i>CALR</i> mutations in myeloproliferative neoplasms: a clinical experience from a tertiary care center in Qatar and a literature review
<h3>Background</h3><p dir="ltr">Myeloproliferative neoplasms (MPNs) are hematological disorders characterized by abnormal production of myeloid cells due to genetic mutations. Since 2013, researchers have identified somatic mutations in the Calreticulin (CALR) gene, prima...
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2024
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| _version_ | 1864513542170869760 |
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| author | Mostafa Najim (14150400) |
| author2 | Mohammad Abu-Tineh (14829313) Awni Alshurafa (15468195) Mohamed Izham Mohamed Ibrahim (10221287) Soubiya Ansari (21842237) Hazem Faraj (11524789) Saif Alateeg (17869373) Susanna Jane Akiki (21842240) Mohamed A. Yassin (8361183) |
| author2_role | author author author author author author author author |
| author_facet | Mostafa Najim (14150400) Mohammad Abu-Tineh (14829313) Awni Alshurafa (15468195) Mohamed Izham Mohamed Ibrahim (10221287) Soubiya Ansari (21842237) Hazem Faraj (11524789) Saif Alateeg (17869373) Susanna Jane Akiki (21842240) Mohamed A. Yassin (8361183) |
| author_role | author |
| dc.creator.none.fl_str_mv | Mostafa Najim (14150400) Mohammad Abu-Tineh (14829313) Awni Alshurafa (15468195) Mohamed Izham Mohamed Ibrahim (10221287) Soubiya Ansari (21842237) Hazem Faraj (11524789) Saif Alateeg (17869373) Susanna Jane Akiki (21842240) Mohamed A. Yassin (8361183) |
| dc.date.none.fl_str_mv | 2024-05-28T09:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1080/16078454.2024.2360246 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/The_characteristics_of_i_CALR_i_mutations_in_myeloproliferative_neoplasms_a_clinical_experience_from_a_tertiary_care_center_in_Qatar_and_a_literature_review/29715725 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Cardiovascular medicine and haematology Oncology and carcinogenesis Myeloproliferative neoplasms CALR mutation thrombosis essential thrombocytosis myelofibrosis |
| dc.title.none.fl_str_mv | The characteristics of <i>CALR</i> mutations in myeloproliferative neoplasms: a clinical experience from a tertiary care center in Qatar and a literature review |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <h3>Background</h3><p dir="ltr">Myeloproliferative neoplasms (MPNs) are hematological disorders characterized by abnormal production of myeloid cells due to genetic mutations. Since 2013, researchers have identified somatic mutations in the Calreticulin (CALR) gene, primarily insertions or deletions, in two Philadelphia chromosome-negative MPNs; essential thrombocytosis (ET) and primary myelofibrosis (PMF), and occasionally in chronic myelomonocytic leukemia (CMML). This study aims to identify the various types of CALR mutations and their impact on CALR-positive MPN patients’ clinical manifestations and outcomes.</p><h3>Methods</h3><p dir="ltr">A single-center retrospective study was conducted. The data was collected from pre-existing records. The study was carried out on Philadelphia-negative MPN patients who were being followed up on at the NCCCR (National Center for Cancer Care and Research) to assess the clinical manifestation and outcome of disease treatment. All patients included, were followed in our center between January 1, 2008, and November 20, 2021.</p><h3>Results</h3><p dir="ltr">A total of 50 patients with <i>CALR</i>-positive MPN were reviewed with a median follow-up of three years (1–11). This cohort included 31 (62%) patients with ET, 10 (20%) patients with PMF, and 9 (18%) patients with prefibrotic myelofibrosis (pre-MF). The study involved 38 (76%) male and 12 (24%) female patients. There were 16 (32%) patients diagnosed before the age of 40, 24 (48%) patients diagnosed between the ages of 40 and 60; and 10 (20%) patients diagnosed after the age of 60. Molecular analysis showed 24 (48%) patients with <i>CALR</i> type 1, 21 (42%) patients with <i>CALR</i> type 2, and 5 (10%) patients with none Type 1, none Type 2 <i>CALR</i> mutations. Two patients have double mutations; 1(2%) with none Type 1, none Type 2 <i>CALR</i> and <i>JAK2</i> mutations, and 1(2%) with <i>CALR</i> type 1 and <i>MPL</i> mutations. The thrombotic events were 3 (6%) venous thromboembolisms, 3 (6%) abdominal veins thromboses, 2 (4%) strokes, and 4 (8%) ischemic cardiac events. Only 4 (8%) patients progressed to Myelofibrosis and were carrying <i>CALR</i> 1 mutations, and 1 (2%) patient progressed to AML with <i>CALR</i> 2 mutation.</p><h3>Conclusion</h3><p dir="ltr">The data shows a significant rise in CALR-positive MPN diagnoses in younger people, emphasizing the need for a better assessment tool to improve disease management and reduce complications.</p><h2>Other Information</h2><p dir="ltr">Published in: Hematology<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1080/16078454.2024.2360246" target="_blank">https://dx.doi.org/10.1080/16078454.2024.2360246</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_0aaec362e1a96bae4fafb46205cf1d9d |
| identifier_str_mv | 10.1080/16078454.2024.2360246 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/29715725 |
| publishDate | 2024 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | The characteristics of <i>CALR</i> mutations in myeloproliferative neoplasms: a clinical experience from a tertiary care center in Qatar and a literature reviewMostafa Najim (14150400)Mohammad Abu-Tineh (14829313)Awni Alshurafa (15468195)Mohamed Izham Mohamed Ibrahim (10221287)Soubiya Ansari (21842237)Hazem Faraj (11524789)Saif Alateeg (17869373)Susanna Jane Akiki (21842240)Mohamed A. Yassin (8361183)Biological sciencesGeneticsBiomedical and clinical sciencesCardiovascular medicine and haematologyOncology and carcinogenesisMyeloproliferative neoplasmsCALR mutationthrombosisessential thrombocytosismyelofibrosis<h3>Background</h3><p dir="ltr">Myeloproliferative neoplasms (MPNs) are hematological disorders characterized by abnormal production of myeloid cells due to genetic mutations. Since 2013, researchers have identified somatic mutations in the Calreticulin (CALR) gene, primarily insertions or deletions, in two Philadelphia chromosome-negative MPNs; essential thrombocytosis (ET) and primary myelofibrosis (PMF), and occasionally in chronic myelomonocytic leukemia (CMML). This study aims to identify the various types of CALR mutations and their impact on CALR-positive MPN patients’ clinical manifestations and outcomes.</p><h3>Methods</h3><p dir="ltr">A single-center retrospective study was conducted. The data was collected from pre-existing records. The study was carried out on Philadelphia-negative MPN patients who were being followed up on at the NCCCR (National Center for Cancer Care and Research) to assess the clinical manifestation and outcome of disease treatment. All patients included, were followed in our center between January 1, 2008, and November 20, 2021.</p><h3>Results</h3><p dir="ltr">A total of 50 patients with <i>CALR</i>-positive MPN were reviewed with a median follow-up of three years (1–11). This cohort included 31 (62%) patients with ET, 10 (20%) patients with PMF, and 9 (18%) patients with prefibrotic myelofibrosis (pre-MF). The study involved 38 (76%) male and 12 (24%) female patients. There were 16 (32%) patients diagnosed before the age of 40, 24 (48%) patients diagnosed between the ages of 40 and 60; and 10 (20%) patients diagnosed after the age of 60. Molecular analysis showed 24 (48%) patients with <i>CALR</i> type 1, 21 (42%) patients with <i>CALR</i> type 2, and 5 (10%) patients with none Type 1, none Type 2 <i>CALR</i> mutations. Two patients have double mutations; 1(2%) with none Type 1, none Type 2 <i>CALR</i> and <i>JAK2</i> mutations, and 1(2%) with <i>CALR</i> type 1 and <i>MPL</i> mutations. The thrombotic events were 3 (6%) venous thromboembolisms, 3 (6%) abdominal veins thromboses, 2 (4%) strokes, and 4 (8%) ischemic cardiac events. Only 4 (8%) patients progressed to Myelofibrosis and were carrying <i>CALR</i> 1 mutations, and 1 (2%) patient progressed to AML with <i>CALR</i> 2 mutation.</p><h3>Conclusion</h3><p dir="ltr">The data shows a significant rise in CALR-positive MPN diagnoses in younger people, emphasizing the need for a better assessment tool to improve disease management and reduce complications.</p><h2>Other Information</h2><p dir="ltr">Published in: Hematology<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1080/16078454.2024.2360246" target="_blank">https://dx.doi.org/10.1080/16078454.2024.2360246</a></p>2024-05-28T09:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1080/16078454.2024.2360246https://figshare.com/articles/journal_contribution/The_characteristics_of_i_CALR_i_mutations_in_myeloproliferative_neoplasms_a_clinical_experience_from_a_tertiary_care_center_in_Qatar_and_a_literature_review/29715725CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/297157252024-05-28T09:00:00Z |
| spellingShingle | The characteristics of <i>CALR</i> mutations in myeloproliferative neoplasms: a clinical experience from a tertiary care center in Qatar and a literature review Mostafa Najim (14150400) Biological sciences Genetics Biomedical and clinical sciences Cardiovascular medicine and haematology Oncology and carcinogenesis Myeloproliferative neoplasms CALR mutation thrombosis essential thrombocytosis myelofibrosis |
| status_str | publishedVersion |
| title | The characteristics of <i>CALR</i> mutations in myeloproliferative neoplasms: a clinical experience from a tertiary care center in Qatar and a literature review |
| title_full | The characteristics of <i>CALR</i> mutations in myeloproliferative neoplasms: a clinical experience from a tertiary care center in Qatar and a literature review |
| title_fullStr | The characteristics of <i>CALR</i> mutations in myeloproliferative neoplasms: a clinical experience from a tertiary care center in Qatar and a literature review |
| title_full_unstemmed | The characteristics of <i>CALR</i> mutations in myeloproliferative neoplasms: a clinical experience from a tertiary care center in Qatar and a literature review |
| title_short | The characteristics of <i>CALR</i> mutations in myeloproliferative neoplasms: a clinical experience from a tertiary care center in Qatar and a literature review |
| title_sort | The characteristics of <i>CALR</i> mutations in myeloproliferative neoplasms: a clinical experience from a tertiary care center in Qatar and a literature review |
| topic | Biological sciences Genetics Biomedical and clinical sciences Cardiovascular medicine and haematology Oncology and carcinogenesis Myeloproliferative neoplasms CALR mutation thrombosis essential thrombocytosis myelofibrosis |