Significance of<i>MYD88</i>L265P Mutation Status in the Subclassification of Low-Grade B-Cell Lymphoma/Leukemia

Insuasti-Beltran, Giovanni; Gale, James M.; Wilson, Carla S.; Foucar, Kathy; Czuchlewski, David R.

doi:10.5858/arpa.2014-0322-oa

Cited by 24 publications

(22 citation statements)

References 27 publications

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“…In the current study, the MYD88 L265P mutation was not detected in all studied individuals. The MYD88 L265P mutation has been demonstrated to be strongly associated with lymphoblastic lymphoma (26). However, this mutation was identified in only 2% of patients with CLL in a study based in Mexico (26).…”

Section: Discussionmentioning

confidence: 98%

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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Section: Discussionmentioning

confidence: 98%

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

et al. 2019

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“…8. Chromosomal analysis demonstrated multiple changes: 48,XX,t(2;13)(q33;q32), +3,der(8;8)(q10; q10)t(8;14)(q24.1;q32), der(14)t(8;14)(q22.3;q32), +18 [2]/46,XX=20…”

Section: Discussionunclassified

Nodal Marginal Zone Large B-Cell Lymphoma with Burkitt Translocation and Complex Chromosomal Changes Associated with Overexpression of BCL2, MYC, and BCL6

Jelić

Huang

Brenholz

et al. 2015

J Clin Exp Hematopathol

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We report the first case of a nodal marginal zone large B-cell lymphoma and the first with MYC rearrangement. This high proliferation rate lymphoma (40% of cells) occurred in the bilateral cervical, axillary, and para-aortic lymph nodes of an 82 year old woman. It involved extensively her bone marrow, and was lethal. Malignant B-cells were CD10 negative, harbored Burkitt translocation, and multiple chromosomal changes including trisomies of chromosomes 3 and 18, and three copies of 8q with an intact q24 cytoband (in addition to MYC rearrangement), associated with overexpression of BCL6, BCL2, and MYC respectively. We suggest that in aggressive nodular marginal zone lymphomas (clinical picture or high proliferation rate of lymphoma cells), fluorescence in situ hybridization analysis for MYC rearrangement, with break-apart probe, and for MYC/IGH translocation, in addition to chromosome analysis, should be performed. MYC rearrangement associated with a more rapid progression of the neoplasia, might warrant a more aggressive treatment. 〔J Clin Exp Hematop 55(3) : 175-180, 2015〕

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“…MYD88 L265P somatic mutation was first identified in patients with WM and is a recurrent somatic mutation in LPL/WM . The great majority of LPL cases (>90%) carry MYD88 L265P mutation, which is absent or rare in other low‐grade B‐cell lymphomas, although this mutation may be present in a subset of diffuse large B‐cell lymphoma …”

Section: Introductionmentioning

confidence: 99%

“…[3][4][5] The great majority of LPL cases (>90%) carry MYD88 L265P mutation, which is absent or rare in other low-grade B-cell lymphomas, although this mutation may be present in a subset of diffuse large B-cell lymphoma. [5][6][7][8][9][10][11][12] Non-Hodgkin lymphomas may secondarily involve body cavities, while LPL/WM rarely involves extramedullary sites, 2 with only sporadic reports involving body cavities as pleural effusion (PE) or ascites. [13][14][15] In our index case (Case no.…”

Section: Introductionmentioning

confidence: 99%

MYD88 L265P mutation analysis is a useful diagnostic adjunct for lymphoplasmacytic lymphoma with pleural effusion

Pan

Wang

Kuo

et al. 2019

Pathology International

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Lymphoplasmacytic lymphoma (LPL) is a marrow‐based lymphoma, rarely involving extramedullary sites, particularly the pleural cavities. The distinction of lymphomatous pleural effusion (PE) in LPL patients from benign effusion is challenging. We conducted this study to examine whether MYD88 L265P mutation analysis is useful in distinguishing benign from lymphomatous PE in four patients with LPL, in which the initial marrow specimens were all positive for MYD88 mutation. In one case each with plasma cell‐ or lymphocyte‐predominant PE, MYD88 mutation was positive, confirming lymphomatous effusion. The other lymphocyte‐predominant PE was negative for MYD88 mutation, but was clonally related to a previous nodal biopsy and this PE was also considered to have LPL involvement. The fourth case developed large B‐cell lymphoma in the PE 30 months later. The PE specimen was negative for MYD88 mutation but was clonally related to the diagnostic marrow tissue, indicating large cell transformation. Four cases of small lymphocyte‐predominant benign PE from patients without history of lymphoma were examined and were all negative for MYD88 L265P mutation. In conclusion, in this small case series we showed that MYD88 L265P mutation analysis could serve as a useful adjunct in distinguishing benign from lymphomatous PE in patients with LPL.

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Significance ofMYD88L265P Mutation Status in the Subclassification of Low-Grade B-Cell Lymphoma/Leukemia

Abstract: This study confirms the strong association of the MYD88 L265P mutation with LPL, as well as the existence of rare cases of small B-cell lymphoma that complicate this association.

Cited by 24 publications

References 27 publications

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

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

Nodal Marginal Zone Large B-Cell Lymphoma with Burkitt Translocation and Complex Chromosomal Changes Associated with Overexpression of BCL2, MYC, and BCL6

MYD88 L265P mutation analysis is a useful diagnostic adjunct for lymphoplasmacytic lymphoma with pleural effusion

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