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Published on: June 16, 2011
High Frequency of MYD88 L265P Mutation in Primary Ocular Adnexal Marginal Zone Lymphoma and Its Clinicopathologic
Amir Behdad1, Xiao Yi Zhou1, Juehua Gao1
1From the Departments of Pathology (Drs Behdad, Gao, and Raparia; Mr Dittman; Drs Qi, Q Chen, and Y-H Chen) and Ophthalmology (Dr Bryar), Northwestern Memorial Hospital, Northwestern University Feinberg School of Medicine, Chicago, Illinois; Wayne State University School of Medicine, Detroit, Michigan (Dr Zhou); Research Resources Center, University of Illinois at Chicago, Chicago (Dr Green); Department of Pathology, University of Michigan, Ann Arbor (Dr Betz). Dr Zhou is currently at the Department of Ophthalmology, Bascom-Palmer Eye Institute, Miami, Florida. Dr Raparia is currently at the Department of Pathology, Kaiser Permanente, Santa Clara, California.
Context.—:
The pathogenesis of primary ocular adnexal marginal zone lymphoma (POAMZL) remains unclear. The reported associations with Chlamydia psittaci infection and MYD88 mutations are highly variable.
Objective.—:
To examine MYD88 L265P mutation in ocular marginal zone lymphomas and correlate with clinicopathologic features and Chlamydia infection.
Design.—:
Presence of MYD88 L265P mutation and Chlamydia infection in lymphoma was analyzed by using sensitive polymerase chain reaction (PCR) methods.
Results.—:
The MYD88 L265P mutation was identified in 8 of 22 POAMZLs (36%), including 2 of 3 cases in which PCR failed to detect clonal IGH gene rearrangement; none of the 4 secondary marginal zone lymphomas were positive. Test results for Chlamydia were negative in all cases. Patients with and without the MYD88 mutation had similar clinicopathologic features.
Conclusions.—:
The MYD88 mutational analysis provides important information in diagnostic workup of POAMZL. The frequent MYD88 mutation suggests a critical role of this aberration in the pathogenesis of POAMZL and may serve as a therapeutic target for patients with progressive disease.
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