Molecular genetics of BCR-ABL1 negative myeloproliferative neoplasms in India

Rabade, Nikhil; Subramanian, PG; Kodgule, Rohan; Raval, Goutham; Joshi, Shalik Ram; Mascarenhas, Russel; Tembhare, Prashant; Gujral, Sumeet; Patkar, Nikhil

doi:10.4103/ijpm.ijpm_223_17

Cited by 9 publications

(7 citation statements)

References 24 publications

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“…JAK2 V617F mutation has a variable prevalence in the PV group ranging from 65% 13 to 97% 1 probably attributed to the sensitivity of the detection methods. In contrast to this study, an Indian report on 113 MPN patients revealed PV in 17.7%, ET in 30.1%, and PMF in 52.2% 14 . Furthermore, a study in Poland found that 29.8% (53/178) of patients were diagnosed with PV, 64% (114/178) with ET, and 6.2% (11/178) with PMF 15 .…”

Section: Discussioncontrasting

confidence: 99%

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The impact of JAK2V617F allelic burden on clinical and laboratory parameters in patients with myeloproliferative neoplasms

Al-Rubaie¹,

Al-Bayaa²,

Al-Musawi³

2020

ATMPH

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JAK2V617F mutation is the most prevalent molecular abnormality in myeloproliferative neoplasms (MPN). This study aims to evaluate the impact of JAK2 V617F allelic burden on clinical and laboratory parameters in MPN.Fifty four patients with MPNwere enrolled in this study. JAK2 V617F allelic burden was determined using a real time PCR. JAK2 V617F was found in 91.7% of polycythaemiavera (PV) cases, in 66.7% of patients with essential thrombocythaemia (ET), and in 75% of patients with primarymyelofibrosis (PMF). The total WBC and absolute neutrophil counts and the presence of splenomegaly were all significantly higher in PV patients with allelic burden greater than 50% than in patients with allelic burden less than 50%.These findings were not observed in patients with ET or in patients with PMF. There was no significant difference for JAK2 V617F between the three MPN disease groups. In conclusion, JAK2 V617F allelic burden ≥30% has evident influence on clinical and laboratory parameters in patients with PV. Only platelet count was noticed to show continued significant difference down to a level of 10%.

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Section: Discussioncontrasting

confidence: 99%

“…The JAK2 V617F mutation was present in 85.2% of all MPN patients. Rabadi N, et al, 14 reported this mutation in only 60% of all MPN patients. Many researchers have pointed to the impact of the JAK2 V617F allelic burden on the clinical and laboratory parameters of patients with MPN 4,[16][17][18] .…”

Section: Discussionmentioning

confidence: 98%

The impact of JAK2V617F allelic burden on clinical and laboratory parameters in patients with myeloproliferative neoplasms

Al-Rubaie¹,

Al-Bayaa²,

Al-Musawi³

2020

ATMPH

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“…15.1% of total PMF & ET and 56.6% & 38.5% of JAK 2 V617F mutation negative PMF and ET cases, respectively 8. The present study also revealed similar frequencies of CALR mutation in ET, which isF I G U R E 4Microphotographs showing different intensity of staining in megakaryocytes.…”

supporting

confidence: 77%

“…When evaluated as a proportion of JAK2 V617F negative cases, the prevalence of CALR has been reported to be as high as 67% and 88% in cases of ET and PMF, respectively 1 . One of the earlier published Indian study, which included 59 PMF and 34 ET cases, has reported the frequency of CALR mutation as 23.7% and 15.1% of total PMF & ET and 56.6% & 38.5% of JAK 2 V617F mutation negative PMF and ET cases, respectively 8 . The present study also revealed similar frequencies of CALR mutation in ET, which is lower than the Western literature.…”

Section: Discussionmentioning

confidence: 99%

Mutant specific anti calreticulin antibody (CAL2) immunohistochemistry as a screening test for calreticulin (CALR) mutation testing

Rahman

Chandra

Singh

et al. 2020

Int J Lab Hematology

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Background About 50 different CALR frameshift mutations have been identified in BCR‐ABL1 negative MPN, all leading to the development of common new protein C terminus. Antibody targeting this terminal epitope can be useful to identify this driver mutation using immunohistochemistry. Materials and Methods CALR mutation analysis was carried out in 51 JAK2V617F negative cases, PMF (n = 22) and ET (n = 29). PCR followed by fragment analysis was performed for molecular detection of CALR mutation. Bone marrow biopsy specimens of corresponding patients were subjected to IHC using mutation specific antibody CAL2. Staining pattern and intensity were observed. Staining of <2% of background nonmegakaryocytic (non‐ MK) cells were regarded as Pattern A, while staining of more than 2% of background nonmegakaryocytic (non‐MK) was regarded as pattern B. Results CALR mutation was noted in 40.9% (9/22) and 41.4% (12/29) of JAK2V617F negative PMF and ET, respectively. All CALR mutated cases, irrespective of the mutation type, showed a positive IHC staining in the megakaryocytes with moderate to bright intensity. All CALR wild‐type cases were negative on IHC. (Concordance rate‐ 100%). Pattern A was noted in 40% cases, while pattern B was noted in 60% cases. Pattern A staining had significantly higher chances of having type 1 mutation as compared to pattern B. In contrast, pattern B had a nonsignificant trend toward higher bone marrow cellularity and marrow fibrosis. Conclusion CAL2 IHC detects all types of CALR mutation. This can act as a sensitive, specific, rapid, and cost‐effective screening test for CALR mutation analysis.

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“…The frequency of our triple-negative mutations was 27.7%, which was similar to a Korean study (20%) [ 22 ]. Otherwise, the frequencies of the triple-negative mutations were found to be lower (10–15%) in Indian and Slovenia studies [ 11 , 28 ]. Other types of clonal mutations, such as ASLX1, EZH2, TET2, IDH1/IDH2, SRSF2 , and SF3B1 genes, may be demonstrated in PMF patients [ 29 ].…”

Section: Discussionmentioning

confidence: 99%

Clinical and Laboratory Features of JAK2 V617F, CALR, and MPL Mutations in Malaysian Patients with Classical Myeloproliferative Neoplasm (MPN)

Zulkeflee

Zulkafli

Johan

et al. 2021

IJERPH

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Mutations of JAK2V617F, CALR, and MPL genes confirm the diagnosis of myeloproliferative neoplasm (MPN). This study aims to determine the genetic profile of JAK2V617F, CALR exon 9 Type 1 (52 bp deletion) and Type 2 (5 bp insertion), and MPL W515 L/K genes among Malaysian patients and correlate these mutations with clinical and hematologic parameters in MPN. Mutations of JAK2V617F, CALR, and MPL were analyzed in 159 Malaysian patients using allele-specific polymerase chain reaction, including 76 polycythemia vera (PV), 41 essential thrombocythemia (ET), and 42 primary myelofibrosis (PMF) mutations, and the demographics of the patients were retrieved. The result showed that 73.6% JAK2V617F, 5.66% CALR, and 27.7% were triple-negative mutations. No MPL W515L/K mutation was detected. In ET and PMF, the predominance type was the CALR Type 1 mutation. In JAK2V617F mutant patients, serum LDH was significantly higher in PMF compared to PV and ET. PV has a higher risk of evolving to post PV myelofibrosis compared to ET. A thrombotic event at initial diagnosis of 40.9% was high compared to global incidence. Only one PMF patient had a CALR mutation that transformed to acute myeloid leukemia. JAK2V617F and CALR mutations play an important role in diagnostics. Hence, every patient suspected of having a myeloproliferative neoplasm should be screened for these mutations.

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Molecular genetics of BCR-ABL1 negative myeloproliferative neoplasms in India

Abstract: We report frequencies of JAK2 p. V617F, MPL exon 10 and CALR mutations in 130 patients similar to those reported in western literature. These mutations carry not only diagnostic but also prognostic relevance.

Cited by 9 publications

References 24 publications

The impact of JAK2V617F allelic burden on clinical and laboratory parameters in patients with myeloproliferative neoplasms

The impact of JAK2V617F allelic burden on clinical and laboratory parameters in patients with myeloproliferative neoplasms

Mutant specific anti calreticulin antibody (CAL2) immunohistochemistry as a screening test for calreticulin (CALR) mutation testing

Clinical and Laboratory Features of JAK2 V617F, CALR, and MPL Mutations in Malaysian Patients with Classical Myeloproliferative Neoplasm (MPN)

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