[Lower-limb peripheral arterial disease]. / Artériopathie oblitérante des membres inférieurs.

Peripheral arterial disease is a result of atheroma. This disease is frequent in subjects with vascular risk factors. This disease is also frequent in low income countries. The detection and the diagnosis of peripheral arterial disease is obtained by calculating the ankle brachial index. Patients with peripheral arterial disease are not always symptomatic thus explaining how this disease is under diagnosed. The symptoms can be absent, and especially in case of diabetes or in women. In case of peripheral arterial disease, atheroma often involves other arterial vascular networks especially the coronaries. An adapted treatment reduces the morbi-mortality linked to this disease. This treatment is based on the correction of the vascular risk factors and especially tobacco cessation, walking rehabilitation and drugs (antiplatelet agent, statin, renin angiotensin system blocker). In case of rest or critic ischemia, the first-line treatment is a revascularisation. In peripheral arterial disease, management of patients is often non optimal and therapeutic targets fairly often obtained.

Clonal evolution of myelofibrosis treated with hematopoietic transplantation, using RUXOLITINIB for chronic GvHD: A case report.

Deciphering the mutational patterns and/or the biomarkers that might predict clinical response in patients with myelofibrosis is primordial to make treatment decisions. In this report, we discuss the clinical history, pathological evaluation, and genomics findings in a patient with JAK2-positive myelofibrosis who developed a secondary myelodysplasia after hematopoietic stem cell transplantation and JAK1/2 inhibitor treatment. Using next-generation sequencing, a paired comparison of relapse-specific versus primary tumour mutations highlighted the dynamic clonal evolution at relapse, showing concurrently the complete eradication of the JAK2-positive clone and the expansion of a second JAK2-negative clone with additional mutations. Importantly, another unexpected finding was that myelodysplasia was not secondary to allogeneic transplantation as relapse was driven by the overgrowth of a preexisting mutated clone, probably fostered by initial treatment options. This case underlines the fact that determining the genetic changes associated with the primary disease and its evolution is crucial to accurately correlate variants frequency to treatment decision and/or treatment response.