Rapid detection of MYD88-L265P mutation by PCR-RFLP in B-cell lymphoproliferative disorders

Argentou, Nikoletta; Vassilopoulos, Georgios; Ιωάννου, Μαρία; Germenis, Anastasios E.; Speletas, Matthaios

doi:10.1038/leu.2013.294

Cited by 15 publications

(14 citation statements)

References 11 publications

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“…Moreover, all CLL cells analyzed were double positive for CD27 and sIgD expression ( Figure 1 ), similar with previous reports in the literature [ 29 , 30 ]. Seven patients (7.5%) displayed monoclonal M-component in their serum ( Table 2 ) and all were negative for the MyD88-L265P mutation [ 31 ].…”

Section: Resultsmentioning

confidence: 99%

TACI Expression and Signaling in Chronic Lymphocytic Leukemia

Mamara

Germenis

Kompoti

et al. 2015

Journal of Immunology Research

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TACI is a membrane receptor of BAFF and APRIL, contributing to the differentiation and survival of normal B cells. Although malignant B cells are also subjected on TACI signaling, there is a remarkable intradisease and interindividual variability of TACI expression in B-cell malignancies. The aim of our study was to explore the possible role of TACI signaling in the biology of chronic lymphocytic leukemia (CLL), including its phenotypic and clinical characteristics and prognosis. Ninety-four patients and 19 healthy controls were studied. CLL patients exhibited variable TACI expression, with the majority of cases displaying low to undetectable TACI, along with low to undetectable BAFF and increased APRIL serum levels compared to healthy controls. CLL cells with high TACI expression displayed a better survival capacity in vitro, when cultured with BAFF and/or APRIL. Moreover, TACI expression was positively correlated with the presence of monoclonal gammopathy and inversely with CD11c expression. Therefore, our study provides further evidence for the contribution of BAFF/APRIL signaling to CLL biology, suggesting also that TACI detection might be useful in the selection of patients for novel targeting therapeutic approaches.

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Section: Resultsmentioning

confidence: 99%

TACI Expression and Signaling in Chronic Lymphocytic Leukemia

Mamara

Germenis

Kompoti

et al. 2015

Journal of Immunology Research

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“…In the presence of wild type allele, the PCR product remained intact, while the mutated allele was digested into 200-bp and 289-bp fragments (14).…”

Section: Methodsmentioning

confidence: 99%

NOTCH1, SF3B1, MDM2 and MYD88 mutations in patients with chronic lymphocytic leukemia

et al. 2019

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Mutations in certain genes have been suggested to be associated with the pathogenesis of chronic lymphocytic leukemia (CLL), which is the most common leukemia in adults. In a case-control study, 100 patients with CLL and 105 healthy individuals were investigated for Notch homolog 1, translocation-associated (Drosophila) (NOTCH1) c.7544-7545delCT, recombinant splicing factor 3B subunit 1 (SF3B1) c.2098A>G, mouse double minute 2 homolog (MDM2) 40-bp insertion/deletion and myeloid differentiation primary response 88 (MYD88) L265P mutations by using allele specific-polymerase chain reaction (AS-PCR), a designed AS-PCR, PCR and PCR-restriction fragment length polymorphism methods, respectively. The presence of NOTCH1 and SF3B1 mutations were confirmed by genomic DNA sequencing. The NOTCH1 mutation was detected in 10% of patients and not detected in the control group. A higher frequency of NOTCH1 mutation was detected in patients with stage III CLL (62.5%) compared with stages 0-II CLL (37.5%) (odds ratio, 4.69-fold; 95% confidence interval, 1.0-21.9; P=0.049). The SF3B1 mutation was observed in 12% of the patients compared with 1.9% of the controls (P=0.012). The presence of MDM2 polymorphism was not associated with the risk or the stage of the disease. In addition, the MYD88 L265P mutation was not detected in the patients or the controls. The current study established the frequency of NOTCH1, SF3B1, MDM2 and MYD88 mutations in patients with CLL from the Kurdish population of Western Iran. In summary, a high frequency of NOTCH1 and SF3B1 mutations were identified in patients with CLL compared with healthy individuals, and the NOTCH1 mutation was associated with a high stage of the disease.

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“…PCR‐RFLP was performed as previously described . Amplification was carried out in a 25‐ μ L reaction volume containing 0.1 μ g DNA, 1.0 m m MgCl 2 , 0.2 m m dNTP, 0.67 μ m of each primer (sequences listed in Table ), and 0.75 U Taq polymerase.…”

Section: Methodsmentioning

confidence: 99%

“…Direct sequencing for detecting MYD88 L265P is costly and time‐consuming and has low sensitivity. Therefore, various PCR‐based methods such as allele‐specific PCR (AS‐PCR), PCR‐restriction fragment length polymorphism (PCR‐RFLP), and high‐resolution melting analysis (HRM) have been investigated .…”

Section: Introductionmentioning

confidence: 99%