Indian Journal of Hematology and Blood Transfusion最新文献

The EPOR rearrangement, an uncommon cytogenetic abnormality linked to BCR::ABL1-like B-ALL, is often underdiagnosed due to the absence of a robust testing strategy, especially in resource-constrained settings. We report six cases of B-ALL with concurrent IGH and EPOR rearrangement from India, representing 1.3% of the tested cases, and reviewed the existing literature. The age ranged from 13 to 37 years (median 17 years), with a 2:1 male dominance. Leukocytosis was observed in 67% of patients (median total leukocyte count-105.9 × 10^9/L), and CD20 expression was seen in 67%. One patient experienced induction failure, while three relapsed within a year of diagnosis and treatment. All six patients died within 6 to 21 months of follow-up. These findings align with previous reports of treatment resistance, frequent relapses, and the need for novel therapeutic agents like JAK inhibitors and CART therapy. In summary, these six B-ALL cases with IGH and EPOR rearrangements highlight the diagnostic challenges and poor outcomes associated with this condition.

Bony complications are variable and common in sickle cell disease. Bone turnover markers are a reflection of bone new bone formation or degradation. The aim of this study is to assess the level of bone turnover markers in patients with sickle cell disease. This case–control study included 40 patients with sickle cell disease and 40 age and sex matched controls. Detection of serum calcium, phosphorus, alkaline phosphatase, serum creatinine levels were done. Assessment of Urinary deoxypyridinoline, Urinary N-terminal telopeptide of type I collagen, and serum osteocalcin were done. Serum osteocalcin was significantly lower, urinary deoxypyridinoline, Urinary N-terminal telopeptide of type I collagen were significantly higher among cases than the control group. Best cut off point for urinary deoxypyridinoline and urinary N-terminal telopeptide of type I collagen were 85.9ng/mg creatinine and 167.4 ng/mg creatinine respectively. Significant bone disease in patients with sickle cell anemia may be reflected by high levels of urinary Deoxypyridinoline and N-telopeptide of type I collagen at or above the cut off value.

The rapid development of fluorescence in situ hybridization (FISH) karyotyping led to the discovery of the significant prognostic impact of certain chromosomal abnormalities on the course of Multiple Myeloma (MM). Additionally, high blood lactate dehydrogenase (LDH) levels have been connected to shorter survival periods, more aggressive malignancies, enhanced cell proliferation, and extramedullary illnesses. This study aims to evaluate the prognostic significance of the R-ISS according to plasmacytoma presentation in newly diagnosed MM patients. Retrospective methods were used to conduct this investigation. A total of 166 consecutive patients with newly diagnosed MM and treated in our tertiary care center between the years 2009 and 2023 were evaluated. Of the 166 individuals who were included in this research, 35 (21.1%) had plasmacytomas at diagnosis. Plasmacytoma was not detected in 131 (78.9%) patients at diagnosis. The mean age was 56.8 ± 7.5 for all patients. The age of the patients without plasmacytoma at diagnosis was statistically significantly higher than patients with plasmacytoma at diagnosis (p: 0.04). No statistically significant difference was observed in terms of OS and DFS in the R-ISS 1, 2, and 3 groups in patients with and without plasmacytoma at diagnosis. Due to this study’s results, we think that more needs to be done regarding the R-ISS classification. Perhaps it would be more effective to include other factors in risk classification, such as age, gender, and the presence of plasmacytoma and lytic lesions.