International journal of laboratory hematology最新文献

Introduction: Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL) is a distinct subtype of T-ALL defined by an immature immunophenotype and unique molecular features. It is often associated with chemoresistance and poor outcomes. Accurate recognition is crucial for therapy optimization and consideration of hematopoietic stem cell transplantation. This study evaluated the Tokyo Children's Cancer Study Group (TCCSG) six-marker flow cytometric scoring system in identifying ETP-ALL and assessed its clinicopathological features and treatment outcomes.

Methods: All consecutive T-ALL cases diagnosed between 2019 and 2023 were retrospectively analyzed. Clinical, immunophenotypic, and treatment-related data were compared between ETP-ALL and non-ETP-ALL subgroups. The TCCSG six-marker scoring system (CD34, HLA-DR, CD8, CD5, CD13, CD33) was applied, and receiver operating characteristic curve analysis determined the optimal cutoff for diagnosis.

Results: Among 104 T-ALL cases, 25 (24.1%) were classified as ETP-ALL. ETP-ALL was more common in adults (> 18 years; 72.0% vs. 48.1%; p = 0.037). Compared with non-ETP-ALL, patients showed lower leukocyte counts (< 100 × 10⁹/L), fewer peripheral blasts, and higher platelet counts (p < 0.05). At end-of-induction (EOI), complete remission rates were lower in ETP-ALL (73.3% vs. 96.6%; p = 0.014), though no significant differences were observed in EOI measurable residual disease, consolidation response, or survival between the groups. A cutoff score ≥ 3 using the TCCSG system yielded 88% sensitivity and 94.9% specificity (AUC = 0.986; p = 0.0001).

Conclusion: ETP-ALL represents a biologically distinct T-ALL subtype with inferior early treatment responses. The TCCSG six-marker scoring system is reliable, accurate, and practical for routine diagnosis, particularly in resource-limited settings.

Background: The activated partial thromboplastin time (aPTT) mixing test is widely used to investigate prolonged aPTT from factor deficiencies, inhibitors, or lupus anticoagulant (LA), but its interpretation remains challenging. Refining protocols and indices may improve accuracy.

Objectives: To compare classical and modified aPTT mixing tests using conventional and novel indices for distinguishing FVIII deficiency, FVIII inhibitors, LA, and heparin, and to develop a structured interpretation algorithm.

Methods: A total of 215 plasma samples (50 factor deficiencies, 51 FVIII inhibitors, 64 LA-positive, 50 heparinized) underwent classical and modified 1:1 mixing tests. ICA and %Correction were calculated for immediate and 2-h incubated mixes, while ΔICA and Δ%Correction were derived from their differences. Diagnostic performance was assessed by ROC analysis, and a proposed algorithm was designed.

Results: Both protocols demonstrated excellent reliability (ICC > 0.90) and substantial agreement in interpretation (κ = 0.65-0.75). The modified protocol consistently outperformed the classical approach, with index of circulating anticoagulant (ICA)-based indices showing the greatest improvement. Novel indices ΔICA and Δ%Correction further enhanced diagnostic specificity compared with single indices. ΔICA achieved the highest performance, with near-perfect accuracy in distinguishing factor deficiency from FVIII inhibitors and FVIII inhibitors from LA (AUC = 0.99 for both). The algorithm applying ΔICA after ICA of the immediate mix effectively separated factor deficiencies, FVIII inhibitors, and LA with high sensitivity and specificity, minimizing diagnostic overlap.

Conclusions: The modified aPTT mixing test provides a reliable and practical approach for interpreting prolonged aPTT. The structured algorithm, combining the modified protocol with ΔICA, offers a systematic and clinically applicable framework for laboratory evaluation.

Introduction: The myeloma patients with baseline normal/near-normal serum free light chain (SFLC) ratio have been reported to respond favorably to the treatment, unlike patients with extreme/abnormal SFLC ratio. We hypothesized that this normal SFLC ratio could serve as a biomarker for favorable cytogenetic and outcome profiles.

Materials and methods: The flow cytometric immunophenotyping (FCM-IPT) and interphase FISH analysis of marrow aspirate were performed as per recommended guidelines, in all the newly diagnosed patients of plasma cell proliferative disorders, enrolled during this prospective study. Patients were risk-stratified as per ISS, R-ISS, and R2-ISS criteria. The outcome evaluation, in patients treated with standard 3-/4-drugs induction, was done at least 3 months after initiation of therapy.

Results: A total of 306 patients with plasma cell proliferative disorders were enrolled; myeloma patients were 240 (n_SFLC = 23/240, 9.6%) and (ab_SFLC = 217/240, 90.4%). IgG lambda M-protein was more significantly seen in (n_SFLC) patients. None of the patients in the (n_SFLC) group showed circulating blood plasma cells. The (n_SFLC) patients did not show the presence of TP53 gene deletion and relatively lacked other high-risk genetics. The outcome analysis showed that more patients in the (n_SFLC) group attained ≥ VGPR (88.9% vs. 65.4% of ab_SFLC).

Conclusion: Based on this, we infer that the patients with a normal SFLC ratio are enriched with non-high-risk features and behave less aggressively.

Introduction: Improvements in treatment of patients with haemophilia A have meant that their quality of life has majorly improved. However, a disadvantage to these developments has come at a cost to the laboratory when monitoring patient Factor VIII (FVIII) levels and there is the potential for under- or overtreatment leading to clinical risk towards the patient.

Methods: A global study performed in 2023 to investigate the differences in FVIII assay results in a large cohort of laboratories has enabled users to understand the challenges that new products can cause. Five FVIII modified/extended half-life (EHL) products were studied by distributing spiked samples via 3 external quality assessment (EQA) schemes (ECAT, NEQAS and RCPAQAP).

Results: Participating laboratories used either one-stage assays (OSA), chromogenic assays (CA), or both methods when performing the assays. Most centres running the OSA used IL Hemosil Synthasil, Siemens Actin FS, Siemens Pathromtin SL, or Stago Cephalin/Kaolin/C.K. Prest reagents, and for the CA, the Chromogenix Coamatic FVIII kit and the Siemens chromogenic FVIII kit were utilised.

Conclusion: The FVIII results submitted by participants showed that currently available OSA and CA do not provide consistent results in some products with both an under- and over-estimation of the expected recovery based on potency at either concentration level. Results for Afstyla Lonoctocog alfa suggest that centres were not clear on whether OSA results were before or after application of the correction factor (multiplication of initial result by 2).