5q Syndrome With Uncommon Features in Chinese Population

Abstract

5q syndrome is a variant of myelodysplastic syndrome (MDS) defined by sole genetic abnormality, del(5)(q13q33), macrocytic anemia, fewer than 5% blasts in blood or bone marrow, no Auer rods, and characteristic dysplastic megakaryocytes. The 5q syndrome has an estimated prevalence of 2.55% among all MDS in China. We searched our archives between 1989 and 2011 and identified 19 cases with sole 5q deletion and complete medical data, including bone marrow biopsies and aspirate smears, peripheral blood smears, and cytogenetic results. The patients included 14 women and 5 men with a median age of 62 years (range, 35-77 years). All patients had anemia (100%) with 80% of macrocytic anemia. In addition, 30% of patients had 2-lineage cytopenia, and 20% had pancytopenia. Bone marrow displayed hypercellularity in 84% of cases (16/19) with dysplastic megakaryocytes. Two cases were misdiagnosed as aplastic anemia. While two thirds of cases had similar pathologic and clinical features as defined in the WHO classification, one third of them have some uncommon findings, including dysplasia in more than 1 lineage or unremarkable morphology, pure erythroid dysplasia, thrombocytopenia, and hypocellularity in bone marrow. Based on available data, no patients developed acute leukemia. Our studies present some uncommon findings of 5q syndrome in a Chinese population. Category:Hematopathology

ONZIN Upregulation by Mutant p53 Contributes to Osteosarcoma Metastasis Through the CXCL5-MAPK Signaling Pathway

“…Osteosarcoma is the most common primary bone tumor in young adults [1,2] and frequently occurs in the femur (42%), tibia (19%), and humerus (10%) [3]. Since the 1970s, despite the use of multi-agent chemotherapy and improvement in surgical techniques, the 5-year overall survival rate of osteosarcoma remains approximately 60% [4].…”

Research progress in the mechanism and treatment of osteosarcoma

“…Studies have demonstrated that OS patients often have P53 mutations. [ 85 ] Wu et al [ 86 ] found that P53 protein expression can be used as a prognostic biomarker to predict overall survival of OS patients, which further positions P53 as an entry point for OS gene therapy. Some studies have demonstrated that combining gene therapy with other treatments may not only have synergistic effects but also reduce the adverse reactions caused by drug therapy alone.…”