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Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation
Next generation sequencing and copy number analysis provide insights into the complexity of the CLL coding genome, and reveal an association between NOTCH1 mutational activation and poor prognosis.
The genetics of Richter syndrome reveals disease heterogeneity and predicts survival after transformation.
TLDR
The molecular dissection of RS into biologically distinct categories highlights the genetic heterogeneity of this disorder and provides clinically relevant information for refining the prognostic stratification of patients.
BRAF mutations in hairy-cell leukemia.
TLDR
The BRAF V600E mutation was present in all patients with HCL who were evaluated, and may have implications for the pathogenesis, diagnosis, and targeted therapy of HCL.
Integrated mutational and cytogenetic analysis identifies new prognostic subgroups in chronic lymphocytic leukemia.
TLDR
This integrated mutational and cytogenetic model independently predicted survival, improved CLL prognostication accuracy compared with FISH karyotype, and was externally validated in an independent CLL cohort.
Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wild-type chronic lymphocytic leukemia.
The genetic lesions identified to date do not fully recapitulate the molecular pathogenesis of chronic lymphocytic leukemia (CLL) and do not entirely explain the development of severe complications
Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness.
TLDR
In fludarabine-refractory CLL, SF3B1 mutations and TP53 disruption distributed in a mutually exclusive fashion points to splicing regulation as a novel pathogenetic mechanism of potential clinical relevance in CLL.
The Prognostic Value of TP53 Mutations in Chronic Lymphocytic Leukemia Is Independent of Del17p13: Implications for Overall Survival and Chemorefractoriness
TLDR
TP53 mutations are an independent predictor of short survival and chemorefractoriness, and CLL presenting with TP53 mutations without del 17p13 fare as poorly as CLL carrying del17p13, respectively.
Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia.
TLDR
NotCH1 mutations are an independent predictor of CLL OS, tend to be mutually exclusive with TP53 abnormalities, and identify cases with a dismal prognosis, which is attributable to shorter treatment-free survival and higher risk of Richter transformation.
Long‐term follow‐up of 233 patients with hairy cell leukaemia, treated initially with pentostatin or cladribine, at a median of 16 years from diagnosis
TLDR
Outcomes for patients with recurrent disease improved with the monoclonal antibody rituximab, combined with either purine analogue, and overall only eight patients died of HCL‐related causes.
The prognosis of clinical monoclonal B cell lymphocytosis differs from prognosis of Rai 0 chronic lymphocytic leukaemia and is recapitulated by biological risk factors
TLDR
Overall, data showed that cMBL has a more favourable clinical course than Rai 0 CLL, and stratification based on biological prognosticators may be helpful forcMBL management.
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