Descriptive analysis of genetic aberrations and cell of origin in Richter transformation. Leuk Lymphoma 2019 Apr;60(4):971-979
Date
01/12/2019Pubmed ID
30632835DOI
10.1080/10428194.2018.1516878Scopus ID
2-s2.0-85063945279 (requires institutional sign-in at Scopus site) 3 CitationsAbstract
Richter transformation (RT) is a progression from chronic lymphocytic leukemia (CLL) to a more aggressive lymphoma, most often diffuse large B-cell lymphoma (DLBCL). Due to the rarity of the disease, data regarding the molecular profile and cell of origin (COO) of RT is limited. We performed immunohistochemistry analysis for COO determination and next-generation sequencing for gene mutation analysis in 11 RT patients. Seventy-nine percent of our patients were classified as non-GCB phenotype. Of the 57 unique mutations identified, the three most commonly mutated genes were TP53, TET2, and CREBBP. Neither TET2 nor CREBBP has been previously described in RT. Our analysis provides additional information to help guide further investigation of both the diagnosis and treatment of this complex and heterogeneous disease.
Author List
Chitalia A, Swoboda DM, McCutcheon JN, Ozdemirli M, Khan N, Cheson BDMESH terms used to index this publication - Major topics in bold
Biomarkers, TumorCell Transformation, Neoplastic
Clonal Evolution
Disease Progression
Female
Genetic Predisposition to Disease
Genetic Variation
High-Throughput Nucleotide Sequencing
Humans
Immunohistochemistry
Leukemia, Lymphocytic, Chronic, B-Cell
Lymphoma, Large B-Cell, Diffuse
Male
Mutation
Polymorphism, Single Nucleotide
Prognosis