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ABSTRACT: Targeted next-generation sequencing in familial myeloproliferative neoplasms

PROVIDER: PRJNA777115 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR16962727.fastq.gz	Fastqsanger.gz
	SRR16962728.fastq.gz	Fastqsanger.gz
	SRR16962729.fastq.gz	Fastqsanger.gz
	SRR16962730.fastq.gz	Fastqsanger.gz
	SRR16962731.fastq.gz	Fastqsanger.gz

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Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation

Project description:Despite relevant clinical and/or familial presentations suggesting a hereditary predisposition (early-onset, multiple primary tumors, familial aggregation), targeted genomic analysis based on the phenotype are often non contributive. As somatic cancer genes are limited, the hypothesis is that the targeted next-generation sequencing of 200 genes, selected for their implications in cancers may contribute to the understanding of many selected patients’ presentation by the identification of germline deleterious mutations, and may identified phenotype overlapping and/or mosaicisms. The focus will be put on early-onset breast, ovarian, colorectal cancer or pediatric cancers and multiple primary tumors.

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Expression profiling of hematopoietic stem cells/progenitors from young (3 months) and old (12 months) homozygous Jak2 R1063H mice and wild-type controls

Project description:While familial and sporadic forms of myeloproliferative neoplasms (MPNs) have long been recognized, emerging evidence implicates germline variations, in predisposing individuals to JAK2 V617F-positive myeloproliferative neoplasms (MPN). Understanding the role of genetic variants, such as the JAK2 germline mutations, in MPN susceptibility, along with the contribution to disease pathogenesis, is crucial for elucidating the underlying mechanisms driving MPN development and progression. To study the biology of germline JAK2 R1063H mutation in more detail, we edited the endogenous Jak2 locus by CRISPR/Cas9 technology. We performed expression gene profiling of young (3 months) and old (12 months) HSC (defined as Lin-, Sca1+/ckithigh, CD150high/CD48low) and LK cells (defined as Lin-, Sca1-/ckithigh).

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Mutation Order Affects Tumor Evolution and Clinical Course of Disease

Project description:Background: Cancers result from accumulation of somatic mutations and their properties are thought to reflect the sum of these mutations. However, little is known about the consequences of altering the order of mutation acquisition. Methods: Mutation order was determined in myeloproliferative neoplasm patients by genotyping hematopoietic colonies or next generation sequencing. Stem and progenitor cells were isolated to study the effect of mutation order on mature and immature hematopoietic cells. Results: Age of presentation, acquisition of JAK2V617F homozygosity and the balance of immature progenitors were all influenced by mutation order. Compared to TET2-first patients, JAK2-first patients had an increased likelihood of presenting with polycythemia vera than essential thrombocythemia, an increased risk of thrombosis and an increased sensitivity of JAK2-mutant progenitors to ruxolitinib in vitro. In studies of single hematopoietic stem and progenitor cells (HSPCs), mutation order influenced the proliferative response to JAK2V617F and the capacity of double-mutant HSPCs to generate colony-forming cells. Moreover the HSPC compartment was dominated by TET2 single-mutant cells in TET2-first patients but by JAK2/TET2 double-mutant cells in JAK2-first patients. Prior mutation of TET2 altered the transcriptional consequences of JAK2V617F in a cell-intrinsic manner, and prevented JAK2V617F from up-regulating genes associated with proliferation. These data demonstrate that mutation order influences progenitor proliferation and terminal cell expansion, thus influencing clinical presentation, thrombosis risk and progenitor response to targeted therapy. Conclusions: The order in which JAK2 and TET2 mutations are acquired influences clinical features, stem/progenitor cell biology and clonal evolution in patients with myeloproliferative neoplasms.

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Project description:No major predisposing gene for familial myeloproliferative neoplasms (MPN) has been identified. Here, we demonstrate that the autosomal dominant transmission of a 700 kb duplication in four geographically-related families predisposes to MPN rapidly progressing to acute leukemia. Using induced pluripotent stem and primary cells to explore hematopoietic differentiation, we demonstrate that overexpressed ATG2B and GSKIP enhance hematopoietic progenitor differentiation, including megakaryocytic through increasing their sensitivity to TPO. ATG2B and GSKIP cooperate with acquired JAK2, MPL and CALR mutations during MPN development. Thus, the germline duplication changes the fitness of cells harboring signaling mutations and increases the probability of disease development.

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