Somatically acquired mutations in primary myelofibrosis: A case report and meta‑analysis

To use or not to use? an ethical analysis of access to data and samples of a deceased patient for genetic diagnostic and research purposes

“…Primary myelofibrosis (PMF) as a myeloproliferative neoplasm is defined by widespread fibrous tissue in the bone marrow and an increased number of myeloid cells. It is accompanied by extramedullary hematopoiesis, organomegaly, pancytopenia, and an altered cytokine expression profile ( 9 ). One-third of the patients (30%) have no symptoms and are detected inadvertently, usually due to an abnormal blood count or splenomegaly ( 10 ).…”

“…In the asymptomatic phase, it is difficult to identify and diagnose most PMF cases. The patients may remain symptom-free for many years ( 9 , 11 ).…”

“…Severe anemia, marked hepatosplenomegaly, fatigue, night sweats, fever, cachexia, bone pain, splenic infarction, pruritus, thrombosis, and bleeding are the clinical manifestations of PMF ( 12 ). The cause of death associated is frequently attributed to heart failure, infection, hemorrhage, or acute leukemia (approximately 20% of PMF patients) ( 9 ). In asymptomatic patients, clinicians may consider delaying treatment until symptoms appear.…”

“…However, allogeneic stem cell transplantation is the only established treatment for PMF in very high-risk patients based on mutations and karyotype. It is a highly experimental procedure; therefore, it is difficult to achieve a cure ( 9 , 12 ).…”

“…A critical issue is the patient's survival, which is 3.5 to 5.5 years from diagnosis of the disease. In familial cases, the 10-year survival rate is only 30% ( 9 ). Compared to more distant relatives, the first-degree relatives of the patients have a 5-7 times elevated risk ( 9 ).…”