russler germainMutationsAssociatedProgression2023 - morinlab/LLMPP GitHub Wiki
In their 2023 study published in Blood Advances, Russler-Germain et al. conducted a comprehensive clinicogenomic analysis of 370 patients with follicular lymphoma (FL) or transformed FL (t-FL). The research aimed to elucidate the relationship between genetic alterations and patient outcomes, particularly focusing on mutations associated with disease progression. (Source)
- No significant differences in mutation burden were observed among FL subsets categorized by grade, stage, watch-and-wait approach, or progression of disease within 24 months (POD24) status.
- However, mutation burden was notably higher in relapsed/refractory FL and t-FL compared to newly diagnosed FL.
- CREBBP mutations were more prevalent in FL than in t-FL and were associated with shorter frontline progression-free survival (PFS) in FL patients.
- Mutations in STAT6, TP53, IGLL5, B2M, SOCS1, and MYD88 were more common in relapsed/refractory FL or t-FL than in newly diagnosed FL.
- The MAP signature was defined as the presence of two or more mutations among the seven genes: CREBBP, STAT6, TP53, IGLL5, B2M, SOCS1, and MYD88.
- Patients with newly diagnosed FL possessing a MAP signature exhibited shorter frontline PFS, indicating a higher risk of disease progression.
- The MAP signature may offer insights into FL progression risk, potentially providing a more generalizable prognostic tool than the m7-Follicular Lymphoma International Prognostic Index (m7-FLIPI).
- Identifying patients with a MAP signature at diagnosis could facilitate the development of targeted therapeutic strategies and inform clinical decision-making.
Russler-Germain et al.'s study enhances the understanding of the genetic factors influencing FL progression. The identification of a MAP signature associated with inferior outcomes at diagnosis underscores the importance of genetic profiling in FL and highlights the potential for personalized treatment approaches in managing this heterogeneous disease.
Entity | Tier 1 genes | Tier 2 genes | Tier 3 genes |
---|---|---|---|
FL | 2 | 18 | 0 |
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This study, New Tier 1, 2
New Tier 1, FL Tier 1, 2
This study, New Tier 2, 18
New Tier 2, FL Tier 2, 18
This study, New Tier 3, 0
New Tier 3, FL Tier 3, 0
All other FL studies, FL Tier 1, 52
All other FL studies, FL Tier 2, 41
All other FL studies, FL Tier 3, 0
New gene | FL tier |
---|---|
BCL10 | 1 |
CD83 | 1 |
New gene | FL tier |
---|---|
ABL2 | 2 |
CD70 | 2 |
CILP | 2 |
CYP2A6 | 2 |
GBP7 | 2 |
GRM6 | 2 |
IGLL5 | 2 |
KIR3DL1 | 2 |
MAGEC1 | 2 |
MAP7D1 | 2 |
MKI67 | 2 |
NFKBIA | 2 |
OR8H2 | 2 |
PZP | 2 |
SHROOM3 | 2 |
SRRM2 | 2 |
STAB2 | 2 |
XIRP2 | 2 |