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MYD88 (L265P) somatic mutation in marginal zone B-cell lymphoma.
Am J Surg Pathol. 2015 May; 39(5):644-51.AJ

Abstract

MYD88 L265P is a somatic mutation that has been identified in about 90% of Waldenström macroglobulinemia/lymphoplasmacytic lymphomas (LPLs). It has also been detected in a subset of marginal zone lymphoma (MZL) cases, but the frequency and clinical and histologic features of these mutated MZL cases has only been partially characterized. We have developed a customized TaqMan allele-specific polymerase chain reaction for sensitive detection of this mutation in paraffin-embedded tissue. We analyzed samples from 19 patients with LPL, 88 patients with splenic marginal zone lymphoma (SMZL), 8 patients with nodal marginal zone lymphoma (NMZL), 21 patients with extranodal mucosa-associated lymphoid tissue (MALT), and 2 patients with B-cell lymphoma not otherwise specified. By integrating mutational, histologic, and clinical data, 5 cases were reclassified as LPL. After reclassification, MYD88 L265P was detected in 13/86 (15%) SMZL and in 19/24 LPL (79%) cases. The mutation was absent from NMZL and MALT cases. A strong correlation was found between the presence of an IgM monoclonal paraproteinemia and the MYD88 L265P mutation (P<0.0001). SMZL cases positive for MYD88 L265P were also associated with monoclonal IgM paraproteinemia (4/13 cases; P<0.0283), although with less serum paraproteinemia. They also had a higher frequency of plasmacytic differentiation (9/13) but with no correlation between the presence of mutation and of light chain-restricted plasma cells in tissue. Demonstration of the MYD88 L265 mutation is a valuable tool for the diagnosis of LPL, although some SMZL cases carrying the mutation do not fulfill the diagnostic criteria for LPL.

Authors+Show Affiliations

*Department of Pathology, Hospital Virgen de la Salud, Toledo †Department of Pathology, Hospital Universitario Marques de Valdecilla, IDIVAL, Santander, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

25723115

Citation

Martinez-Lopez, Azahara, et al. "MYD88 (L265P) Somatic Mutation in Marginal Zone B-cell Lymphoma." The American Journal of Surgical Pathology, vol. 39, no. 5, 2015, pp. 644-51.
Martinez-Lopez A, Curiel-Olmo S, Mollejo M, et al. MYD88 (L265P) somatic mutation in marginal zone B-cell lymphoma. Am J Surg Pathol. 2015;39(5):644-51.
Martinez-Lopez, A., Curiel-Olmo, S., Mollejo, M., Cereceda, L., Martinez, N., Montes-Moreno, S., Almaraz, C., Revert, J. B., & Piris, M. A. (2015). MYD88 (L265P) somatic mutation in marginal zone B-cell lymphoma. The American Journal of Surgical Pathology, 39(5), 644-51. https://doi.org/10.1097/PAS.0000000000000411
Martinez-Lopez A, et al. MYD88 (L265P) Somatic Mutation in Marginal Zone B-cell Lymphoma. Am J Surg Pathol. 2015;39(5):644-51. PubMed PMID: 25723115.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MYD88 (L265P) somatic mutation in marginal zone B-cell lymphoma. AU - Martinez-Lopez,Azahara, AU - Curiel-Olmo,Soraya, AU - Mollejo,Manuela, AU - Cereceda,Laura, AU - Martinez,Nerea, AU - Montes-Moreno,Santiago, AU - Almaraz,Carmen, AU - Revert,Jose B, AU - Piris,Miguel A, PY - 2015/2/28/entrez PY - 2015/2/28/pubmed PY - 2015/6/16/medline SP - 644 EP - 51 JF - The American journal of surgical pathology JO - Am. J. Surg. Pathol. VL - 39 IS - 5 N2 - MYD88 L265P is a somatic mutation that has been identified in about 90% of Waldenström macroglobulinemia/lymphoplasmacytic lymphomas (LPLs). It has also been detected in a subset of marginal zone lymphoma (MZL) cases, but the frequency and clinical and histologic features of these mutated MZL cases has only been partially characterized. We have developed a customized TaqMan allele-specific polymerase chain reaction for sensitive detection of this mutation in paraffin-embedded tissue. We analyzed samples from 19 patients with LPL, 88 patients with splenic marginal zone lymphoma (SMZL), 8 patients with nodal marginal zone lymphoma (NMZL), 21 patients with extranodal mucosa-associated lymphoid tissue (MALT), and 2 patients with B-cell lymphoma not otherwise specified. By integrating mutational, histologic, and clinical data, 5 cases were reclassified as LPL. After reclassification, MYD88 L265P was detected in 13/86 (15%) SMZL and in 19/24 LPL (79%) cases. The mutation was absent from NMZL and MALT cases. A strong correlation was found between the presence of an IgM monoclonal paraproteinemia and the MYD88 L265P mutation (P<0.0001). SMZL cases positive for MYD88 L265P were also associated with monoclonal IgM paraproteinemia (4/13 cases; P<0.0283), although with less serum paraproteinemia. They also had a higher frequency of plasmacytic differentiation (9/13) but with no correlation between the presence of mutation and of light chain-restricted plasma cells in tissue. Demonstration of the MYD88 L265 mutation is a valuable tool for the diagnosis of LPL, although some SMZL cases carrying the mutation do not fulfill the diagnostic criteria for LPL. SN - 1532-0979 UR - https://www.unboundmedicine.com/medline/citation/25723115/MYD88__L265P__somatic_mutation_in_marginal_zone_B_cell_lymphoma_ L2 - http://dx.doi.org/10.1097/PAS.0000000000000411 DB - PRIME DP - Unbound Medicine ER -