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Related Concept Videos

Treatment Resistant Cancers02:56

Treatment Resistant Cancers

Cancer is the second leading cause of death in the United States. A cancer cell is genetically unstable and hence can mutate faster. They can also modify their microenvironment and escape immune surveillance. The difficulties in treating cancer are further compounded by the emergence of rapid resistance to anticancer drugs. The most common ways to attain resistance in cancer cells include alteration in drug transport and metabolism, modification of drug target, elevated DNA damage response, or...

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VDJ-Seq: Deep Sequencing Analysis of Rearranged Immunoglobulin Heavy Chain Gene to Reveal Clonal Evolution Patterns of B Cell Lymphoma
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Specific Mutation Predict Relapse/Refractory Diffuse Large B-Cell Lymphoma.

Jing Wang1, Lei Tian2, Weilong Zhang1

  • 1Department of Hematology, Lymphoma Research Center, Peking University Third Hospital, Beijing, 100191, People's Republic of China.

Journal of Blood Medicine
|September 16, 2024
PubMed
Summary

Gene mutations like CD58 may predict relapse/refractory diffuse large B-cell lymphoma (DLBCL). TP53, MEF2B, and CD58 mutations were more common in patients who progressed. CD58 mutations were exclusive to the relapse/refractory group.

Keywords:
diffuse large B-cell lymphomamutation profilerelapse/refractory diseasetargeted sequencing

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Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • Rituximab therapy improves survival in diffuse large B-cell lymphoma (DLBCL).
  • A substantial proportion of DLBCL patients still develop relapse/refractory disease (rrDLBCL).

Purpose of the Study:

  • To investigate gene mutations as predictors of progression to rrDLBCL.
  • To compare mutation profiles between DLBCL at diagnosis and rrDLBCL cases.

Main Methods:

  • Targeted sequencing of 55 genes was performed.
  • Mutation profiles were analyzed in diagnostic biopsies and rrDLBCL samples.

Main Results:

  • Elevated mutation frequencies of TP53, MEF2B, and CD58 were observed in patients who progressed to rrDLBCL.
  • CD58 mutations were exclusively found in the rrDLBCL group.
  • CARD11 mutations were more frequent in non-responders to immunochemotherapy, while EBF1 mutations were specific to rrDLBCL.

Conclusions:

  • Genetic mutations contribute to rrDLBCL progression.
  • CD58 mutations may serve as a predictive marker for relapse/refractory outcomes in DLBCL.