Tumor Type

Lymphoproliferative Syndrome - B-Cell Prolymphocytic Leukemia
Project Profile
Funding Organizations
Research Organizations
Research Activities
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Clinic & Pathology

France: Institut Gustave Roussy

B-cell prolymphocytic leukemia (B-PLL) is a neoplasm of B prolymphocytes affecting the peripheral blood, bone marrow and spleen. Prolymphocytes must exceed 55% of lymphoid cells in the blood. B-PLL is an extremely rare disease, with little knowledge about the cell of origin, and the genetic abnormalities. We have collected cells from 14 patients, with a confirmed diagnosis of B-PLL by revised morphology (3 reviewers). For all those patients, we have clinical and biological data, including age, sex, lymphocytosis, Hb, Platelets, date of diagnosis, date of treatment, type of treatment, immunophenotype, cytogenetics, IGHV status.

Sequencing & Analysis

France: Institut Gustave Roussy

We used sorted CD19+ tumor cells (and CD5+ when appropriate) and nontumor (CD3+) cells to extract DNA from exome capture with the SureSelect V4 Mb All Exon Kit (Agilent Technologies) following the standard protocols. We performed paired-end sequencing (100 bp) using HiSeq2000 sequencing instruments at IGR.

Complementary Studies

Data Storage, Analysis & Management

France: Institut Gustave Roussy

We mapped reads from the Illumina sequencing to the reference genome hg19 using the Burrows-Wheeler Aligner (BWA) alignment tool version 0.5.9. PCR duplicates were removed using SAMtools (0.1.18). The detection of candidate somatic mutations was performed as previously described (Damm et al, Cancer Discovery, 2014;4:1088-1101) with minor modification. Briefly, the number of the reads containing single-nucleotide variations (SNV) and indels in both tumor and reference samples was enumerated using SAMtools, and the null hypothesis of equal allele frequencies between tumor and reference was tested using the two-tailed Fisher exact test. For candidate somatic mutations, those variants were adopted as candidate mutations whose P value was <0.01 and the allele frequency was <0.1 in the reference sample.

Project Summary

Prolymphocytic B-cell leukaemia is a rare blood cancer characterised by the presence of B prolymphocytes in peripheral blood, bone marrow and spleen. This is an aggressive blood cancer that presents poor response to treatment.
Prolymphocytic B-cell leukemia samples are being analyzed for the presence of somatic mutations using exome sequencing. The clonal organization of the tumor and the cell of origin will be determined using a combination of resequencing and cellular biology approaches.

Principal Investigators

Olivier Bernard
Florence Nguyen Khac

Lead Jurisdiction