Prevalence and clinicopathological features of driver gene mutations profile in BCR:ABL1 negative classical myeloproliferative neoplasm—A single-center study from North India
Background: Recurrent somatic mutations in the JAK2, CALR, and the MPL genes are noted in BCR:ABL1 negative classic myeloproliferative neoplasms (MPN) that includes polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (PMF). Materials and Methods: Mutation profile and cli...
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Wolters Kluwer Medknow Publications
2024-12-01
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| Series: | Indian Journal of Pathology and Microbiology |
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| Online Access: | https://journals.lww.com/10.4103/ijpm.ijpm_743_23 |
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| author | Khaliqur Rahman Seema Biswas Akhilesh Sharma Kusum Gupta Dinesh Chandra Manish K. Singh Ruchi Gupta Ashish Mishra Sanjeev Kumar Anshul Gupta Faheema Hasan Soniya Nityanand Rajesh Kahsyap |
| author_facet | Khaliqur Rahman Seema Biswas Akhilesh Sharma Kusum Gupta Dinesh Chandra Manish K. Singh Ruchi Gupta Ashish Mishra Sanjeev Kumar Anshul Gupta Faheema Hasan Soniya Nityanand Rajesh Kahsyap |
| author_sort | Khaliqur Rahman |
| collection | DOAJ |
| description | Background:
Recurrent somatic mutations in the JAK2, CALR, and the MPL genes are noted in BCR:ABL1 negative classic myeloproliferative neoplasms (MPN) that includes polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (PMF).
Materials and Methods:
Mutation profile and clinical features of MPN cases diagnosed at a tertiary care center in North India are being described. JAK2V617F mutation was screened using ARMS PCR, and CALR mutation was screened using allele-specific PCR followed by fragment analysis. MPL and JAK2 Exon 12 mutations were screened by Sanger sequencing. Some of the samples were also screened using commercial kits based on single-plex RT PCR.
Results:
A total of 378 cases (including 124 PV, 121 ET, and 133 PMF cases) were screened over 6.5 years. JAK2V617F mutation was noted in 90.3%, 61.1%, and 69.2% of cases of PV, ET, and PMF, respectively. In PV, JAK2V617F wild-type cases were associated with a significantly lower age (44 yrs vs 54 yrs; P = 0.001), lower TLC (6.3 vs 16.9; P = 0.001), and a lower platelet count (188 × 109/L vs 435 × 109/L; P = 0.009) as compared to the JAK2V617F mutated cases. CALR and MPL mutations were noted in 17.4% and 12% and 0.8% and 5.3% of ET and PMF cases, respectively. Type 1 CALR mutations were commoner in both ET and PMF. The triple negative cases constituted 20.7% and 13.5% cases of ET and PMF, respectively. In ET, the triple negative cases were found to have a significantly lower median age of presentation (42 yrs vs 52 yrs; P = 0.001), lower median TLC (10.2 × 109/L vs 13.2 × 109/L; P = 0.024), and a higher median platelet count (1238 × 109/L vs 906 × 109/L; P = 0.001) as compared to driver genes mutated cases. In PMF, the triple negative cases were found to have a significantly lower hemoglobin level (7.9 g/dl vs 11.0 gl/dl; P = 0.001) and a significant female preponderance (P = 0.05) as compared to the mutated cases. CALR mutations were found to have a significantly lower median age (43 yrs vs 56 yrs; P = 0.001) and lower hemoglobin (9.6 g/dl vs 11.3 g/dl) as compared to the JAK2 mutations.
Conclusion:
Our data on the driver gene mutational profile of BCR:ABL1 negative MPN is one of the largest patient cohorts. The prevalence and clinicopathological features corroborate with that of other Asian studies. |
| format | Article |
| id | doaj-art-49c8bc3666f64cf085477cc2bac11cdc |
| institution | Kabale University |
| issn | 0377-4929 0974-5130 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Pathology and Microbiology |
| spelling | doaj-art-49c8bc3666f64cf085477cc2bac11cdc2025-01-10T10:22:48ZengWolters Kluwer Medknow PublicationsIndian Journal of Pathology and Microbiology0377-49290974-51302024-12-0167473974610.4103/ijpm.ijpm_743_23Prevalence and clinicopathological features of driver gene mutations profile in BCR:ABL1 negative classical myeloproliferative neoplasm—A single-center study from North IndiaKhaliqur RahmanSeema BiswasAkhilesh SharmaKusum GuptaDinesh ChandraManish K. SinghRuchi GuptaAshish MishraSanjeev KumarAnshul GuptaFaheema HasanSoniya NityanandRajesh KahsyapBackground: Recurrent somatic mutations in the JAK2, CALR, and the MPL genes are noted in BCR:ABL1 negative classic myeloproliferative neoplasms (MPN) that includes polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (PMF). Materials and Methods: Mutation profile and clinical features of MPN cases diagnosed at a tertiary care center in North India are being described. JAK2V617F mutation was screened using ARMS PCR, and CALR mutation was screened using allele-specific PCR followed by fragment analysis. MPL and JAK2 Exon 12 mutations were screened by Sanger sequencing. Some of the samples were also screened using commercial kits based on single-plex RT PCR. Results: A total of 378 cases (including 124 PV, 121 ET, and 133 PMF cases) were screened over 6.5 years. JAK2V617F mutation was noted in 90.3%, 61.1%, and 69.2% of cases of PV, ET, and PMF, respectively. In PV, JAK2V617F wild-type cases were associated with a significantly lower age (44 yrs vs 54 yrs; P = 0.001), lower TLC (6.3 vs 16.9; P = 0.001), and a lower platelet count (188 × 109/L vs 435 × 109/L; P = 0.009) as compared to the JAK2V617F mutated cases. CALR and MPL mutations were noted in 17.4% and 12% and 0.8% and 5.3% of ET and PMF cases, respectively. Type 1 CALR mutations were commoner in both ET and PMF. The triple negative cases constituted 20.7% and 13.5% cases of ET and PMF, respectively. In ET, the triple negative cases were found to have a significantly lower median age of presentation (42 yrs vs 52 yrs; P = 0.001), lower median TLC (10.2 × 109/L vs 13.2 × 109/L; P = 0.024), and a higher median platelet count (1238 × 109/L vs 906 × 109/L; P = 0.001) as compared to driver genes mutated cases. In PMF, the triple negative cases were found to have a significantly lower hemoglobin level (7.9 g/dl vs 11.0 gl/dl; P = 0.001) and a significant female preponderance (P = 0.05) as compared to the mutated cases. CALR mutations were found to have a significantly lower median age (43 yrs vs 56 yrs; P = 0.001) and lower hemoglobin (9.6 g/dl vs 11.3 g/dl) as compared to the JAK2 mutations. Conclusion: Our data on the driver gene mutational profile of BCR:ABL1 negative MPN is one of the largest patient cohorts. The prevalence and clinicopathological features corroborate with that of other Asian studies.https://journals.lww.com/10.4103/ijpm.ijpm_743_23calrdriver mutationsjak2v617fmplmyeloproliferative neoplasm (mpn) |
| spellingShingle | Khaliqur Rahman Seema Biswas Akhilesh Sharma Kusum Gupta Dinesh Chandra Manish K. Singh Ruchi Gupta Ashish Mishra Sanjeev Kumar Anshul Gupta Faheema Hasan Soniya Nityanand Rajesh Kahsyap Prevalence and clinicopathological features of driver gene mutations profile in BCR:ABL1 negative classical myeloproliferative neoplasm—A single-center study from North India Indian Journal of Pathology and Microbiology calr driver mutations jak2v617f mpl myeloproliferative neoplasm (mpn) |
| title | Prevalence and clinicopathological features of driver gene mutations profile in BCR:ABL1 negative classical myeloproliferative neoplasm—A single-center study from North India |
| title_full | Prevalence and clinicopathological features of driver gene mutations profile in BCR:ABL1 negative classical myeloproliferative neoplasm—A single-center study from North India |
| title_fullStr | Prevalence and clinicopathological features of driver gene mutations profile in BCR:ABL1 negative classical myeloproliferative neoplasm—A single-center study from North India |
| title_full_unstemmed | Prevalence and clinicopathological features of driver gene mutations profile in BCR:ABL1 negative classical myeloproliferative neoplasm—A single-center study from North India |
| title_short | Prevalence and clinicopathological features of driver gene mutations profile in BCR:ABL1 negative classical myeloproliferative neoplasm—A single-center study from North India |
| title_sort | prevalence and clinicopathological features of driver gene mutations profile in bcr abl1 negative classical myeloproliferative neoplasm a single center study from north india |
| topic | calr driver mutations jak2v617f mpl myeloproliferative neoplasm (mpn) |
| url | https://journals.lww.com/10.4103/ijpm.ijpm_743_23 |
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