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SOPHiA DDM™ Myeloid Solution

Identifying germline predisposition to myeloid neoplasms is crucial for effective disease management beforeHSCT. Germline was suspected in 21% HSTC which is not minor and can affect transplant timing. Correctconfirmation is essential to guide donor testing and selection.

"SOPHiA GENETICS...announced that Hôpital Saint-Louis, located in Paris, has implemented the SOPHiA DDM™ Platform to help advance its research of Myeloid Disorders and continue expanding the use of precision medicine for those in the area. This latest implementation is an expansion of its existing work with SOPHiA GENETICS."

"SOPHiA GENETICS...announced that Shaare Zedek...is now live on the SOPHiA DDM™ Platform. The Platform will enable Shaare Zedek to advance its insights the treatment of myeloid disorders and further develop the application of precision medicine...With the SOPHiA DDM™ Platform, Shaare Zedek Medical Center will retain complete ownership of its database, supporting the research team as it continues to increase its expertise."

We would like to shine a light on the role of CBL in MPNs, given the high frequency in our case study. We can speculate its role as a co-driver mutation, in the peculiar clinical and histological entity of early MF, with microvascular symptoms but also a tendency to bleeding. CBL could further explain why MPNs are historically considered as vascular disease, with both a high thrombotic and hemorrhagic risk.

In summary, the use of genetic polymorphisms (specifically ITPA SNPs) to predict efficacy and adverse events inour MPN patients treated with ROPEG shows promise in improving personalized treatment and patient outcomes. Approximately half of patients achieved MMR of JAK2 V617F and loss of co-existing mutations could occur in a subset of MPN patients following ROPEG therapy. Ropeg-Interferon, Single nucleotide polymorphism, Myeloproliferative disorder, Polycythemia vera

"Acetylsalicylic acid (ASA) seemed to be able to restore the expression of PFRs...In contrast, rheological characteristics and endothelial stress in PV seem to result in a greater involvement of the intrinsic pathway. ROTEM and PFR expression confirm the existence of dynamic states of hypercoagulability in MPNs and could be used to assess the efficacy of prophylaxis."

"NGS detected pathogenic mutations in JAK2 (p.Val617Phe, VAF 41%), SRSF2 (p.Pro95His, VAF 42%) and ETV6 (p.Arg105*, VAF 41%) and likely pathogenic mutation in ASXL1 (p.?; c.1720-2A>G, VAF 45%)...Conclusion Optical Genome Mapping suggest to be very promising diagnostic tool that can complete the study of patients with myelofibrosis, especially in those with non-assessable karyotype. The extension to a larger number of patients will confirm the results obtained and detect variables that remain cryptic to the karyotype."