Disease-specific mutations in mature lymphoid neoplasms: recent advances.

[waldenstrÃ¶m macroglobulinemia]

Mature lymphoid neoplasms (MLN ) are clinically and pathologically more complex than precursor lymphoid neoplasms . Until recently , molecular characterization of MLN was mainly based on cytogenetics /fluorescence in situ hybridization , allele copy number , and mRNA expression , approaches that yielded scanty gene mutation information . Use of massive parallel sequencing technologies has changed this outcome , and now many gene mutations have been discovered . Some of these are considerably frequent in , and substantially specific to , distinct MLN subtypes , and occur at single or several hotspots . They include the V 600 E BRAF mutation in hairy cell leukemia , the L 265 P MYD 88 mutation in WaldenstrÃ¶m macroglobulinemia , the G 17 V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma , not otherwise specified , and the Y 640 F //D 661 Y /V /H /I //N 647 I STAT 3 mutations in T -cell large granular lymphocytic leukemia . Detecting these mutations is highly valuable in diagnosing MLN subtypes . Defining these mutations also sheds light on the molecular pathogenesis of MLN , furthering development of molecular targeting therapies . In this review , we focus on the disease-specific gene mutations in MLN discovered by recent massive sequencing technologies .

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waldenstrÃ¶m macroglobulinemia

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