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Title: The Detection of BRAF-V600E Mutation in Hairy Cell Leukaemia by Polymerase Chain Reaction and Study of its associated Clinicohaematological Parameters
Authors: Muhammad Ijaz Iqbal, Helen Mary Robert, Nabeela Khan, Rafia Mahmood, Ayesha Khurshid, Saleem Ahmed Khan
Journal: Pakistan Armed Forces Medical Journal (PAFMJ)
Publisher: Army Medical College, Rawalpindi.
Country: Pakistan
Year: 2022
Volume: 72
Issue: Supplementary 2
Language: English
DOI: 10.51253/pafmj.v72iSUPPL-2.3083
Keywords: Chronic lymphocytic leukemiaBRAF V600E mutationB-cell lymphoproliferativeComplete blood countsMonocytopeniaPallor
Objective: To contemplate the occurrence of a rare mutation (BRAF V600E) in the patients having Hairy cell leukemia in our setting, which wouldserve asuseful analytic and diagnostic criteria.
Study Design: Analytical cross sectional study.
Place and Duration of Study: Armed Forces Institute of Pathology Rawalpindi Pakistan, from Oct 2017 to Oct 2018.
Methodology: A sample of 36 patients with a suspicion of Hairy cell leukemia were included in this investigation. Complete blood counts, bone marrow examination (trephine biopsy and aspiration), cyto-chemistry and staining of the patients suspected to have Hairy cell leukemia was performed. PCR was done for detection of BRAF V600E mutation.
Results: 29 (80.5%) cases showed a positive BRAF mutational analysis and 7 (19.4%) cases showed a negative result.
Conclusion: Almost all the cases of classic Hairy cell leukemia had BRAF V600 E mutation.Isolating this mutation can be used as a regular tool in detection of disease and monitoring disease progression and relapse.
To determine the occurrence of the BRAF V600E mutation in patients with Hairy Cell Leukemia in Pakistan and to study its association with clinicohaematological parameters.
An analytical cross-sectional study was conducted on 36 patients suspected of Hairy Cell Leukemia. The study involved complete blood counts, bone marrow examination, cyto-chemistry, and staining. Polymerase Chain Reaction (PCR) was used to detect the BRAF V600E mutation. Statistical analysis was performed using SPSS version 21.0.
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A["Patient Recruitment n=36, suspected HCL"] --> B["Sample Collection"Bone Marrow/Peripheral Blood""];
B --> C["DNA Extraction"];
C --> D["Polymerase Chain Reaction PCR for BRAF V600E"];
D --> E["BRAF V600E Mutation Analysis"];
E --> F["Haematological Parameter Assessment CBC, Bone Marrow Exam"];
F --> G["Data Analysis SPSS"];
G --> H["Correlation of Mutation with Clinicohaematological Parameters"];
H --> I["Conclusion"];
Hairy Cell Leukemia is a rare B-cell lymphoproliferative disorder characterized by splenomegaly, pancytopenia, and monocytopenia. The BRAF V600E mutation is a hallmark of classic HCL and is implicated in the uncontrolled proliferation of cells. The study highlights the importance of this mutation as a diagnostic tool, particularly in distinguishing classic HCL from HCL variant, which often lacks the mutation and shows resistance to purine analog therapy.
The BRAF V600E mutation was detected in 29 (80.5%) of the 36 patients. Males constituted 75% of the study population. Common symptoms included splenomegaly (100%), pallor (84%), and fever. A statistically significant association was found between the BRAF V600E mutation and classic Hairy Cell Leukemia compared to HCL variant (p-value <0.03).
The BRAF V600E mutation is present in almost all cases of classic Hairy Cell Leukemia. Its detection serves as a valuable tool for disease diagnosis, monitoring progression, and identifying relapse.
1. BRAF V600E Mutation Prevalence: The study found the BRAF V600E mutation in 80.5% of HCL cases.
2. Gender Distribution: Males represented 75% of the study participants.
3. Splenomegaly: Splenomegaly was reported in 100% of HCL patients in this study.
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