The 2022 WHO and ICC classifications identify MDS-related cytogenetic abnormalities and secondary gene mutations (SM) that in de novo disease are diagnostic of myelodysplasia-related AML, which confers a poorer prognosis. While most MDS-related abnormalities overlap between the two classifications, trisomy 8 (+8) is unique to the ICC and has not been previously included as an MDS-related abnormality. In light of this, we sought to determine the prognostic significance of +8 as an MDS-related abnormality in patients with de novo AML lacking other MDS-related cytogenetics.
We identified 337 patients with de novo AML lacking MDS-related cytogenetics other than +8 and analyzed clinicopathologic outcomes, overall survival (OS), and relapse-free survival (RFS). Two groups were identified: AML with SM (n = 195, 57.9%) and AML without SM (n = 142, 42.1%). Fifty-nine (17.5%) patients had +8; 39 (66.1%) of these had at least one SM, while 20 (33.9%) did not.
Among patients treated with induction or hypomethylating agents (n = 317), OS and RFS were significantly shorter in patients with SM than without (OS: p = 0.001, RFS: p = 0.0004) but not significantly different between patients with and without +8 (OS: p = 0.15, RFS: p = 0.35). Similarly, when cases were limited to those with SM (n = 179), no significant difference in OS or RFS was observed between patients with and without +8 (OS: p = 0.21, RFS: p = 0.30). There was no significant association between +8 and SM (p = 0.15).
In our cohort, unlike MDS-related SM, trisomy 8 does not influence OS or RFS, despite its inclusion in the ICC as an MDS-related abnormality.
Dynamic monitoring of circulating tumor DNA (ctDNA) offers a non-invasive method to track treatment response in malignancies. While well-established in solid tumors, its role in lymphomas, especially in predicting response to CAR-T cell therapy, remains underexplored—more so in the Indian context. This case highlights ctDNA as a potential predictive biomarker in relapsed/refractory DLBCL undergoing CAR-T therapy.
A 48-year-old male with transformed follicular lymphoma to DLBCL, refractory to R-CHOP and BR, was treated with anti-CD19 CAR-T cell therapy. Baseline ctDNA profiling from plasma revealed a TP53 p.E286K mutation at 1.3% VAF. Serial monitoring showed a decline to 0.4% at four weeks and complete clearance at eight weeks post-infusion, correlating with metabolic complete response on PET-CT. No co-occurring mutations were observed.
This case illustrates how dynamic ctDNA profiling can reflect early molecular response, preceding radiological confirmation. Existing literature suggests that early ctDNA negativity post-CAR-T correlates with improved outcomes. This is the first reported Indian case employing a validated, homebrew NGS-based ctDNA assay to longitudinally track CAR-T response. Incorporating ctDNA-guided surveillance may refine response assessment and reduce unnecessary imaging, optimizing outcomes in resource-constrained settings.
Laboratory developed tests (LDTs) are widely used in clinical hemostasis laboratories. An LDT may be defined as an in vitro diagnostic (IVD) test that is designed, manufactured, and used within a single laboratory. As with all other clinical laboratory tests, LDTs must be validated to ensure fitness for purpose. This may include the assessment of accuracy/comparability, precision, analytical sensitivity, and specificity, reportable range, reference intervals, linearity, and carryover. Not all validation elements will be applicable to all situations, and this will be dictated by the type of assay, the intended use, and the laboratory setting, for example a minor modification of an assay with regulatory approval will require fewer validation procedures than a wholly new test using reagents developed within the laboratory. Many LDTs in the hemostasis laboratory cannot be assessed in the usual fashion, so alternative approaches must be developed.
With the increasing frequency of heat waves due to climate change, heat-related illnesses are becoming more common. Heatstroke is a life-threatening condition characterized by hyperthermia and multiple organ failure. A rare morphological feature, botryoid nuclei, has been identified in the peripheral blood of patients with hyperthermia, but its significance is not well understood. This study investigates the diagnostic value of botryoid neutrophils as a potential marker of severe hyperthermia and systemic inflammation in heatstroke and neuroleptic malignant syndrome.
We performed a retrospective analysis of six patients with hyperthermia who were admitted to the Hospital Clínic of Barcelona and the Hospital de la Santa Creu i Sant Pau during the summers of 2023 and 2024. Peripheral blood smears were analyzed using CellaVision DM9600, MC-80, and DI60 analyzers. Blood cell counts were obtained using Advia 2120i and Sysmex XN analyzers. Biochemical parameters were measured using Atellica Solutions and Alinity analyzers.
Among the six cases, five were diagnosed with heatstroke and one with neuroleptic malignant syndrome. All patients exhibited botryoid nuclei in leucocytes (8% to 29%), more frequently observed in neutrophils. Hematologic findings included leucocytosis, neutrophilia with left shift, and thrombocytopenia. Biochemical analysis revealed significant organ dysfunction, including elevated liver enzymes, renal failure, and increased inflammatory markers, such as procalcitonin and lactic acid.
Botryoid-nuclei leucocytes may serve as a diagnostic marker for hyperthermia-related conditions, including heatstroke and neuroleptic malignant syndrome. This finding underscores the relevance of early recognition and intervention in patients presenting with hyperthermia and systemic inflammation.
The impact of ethylenediaminetetraacetic acid (EDTA) on leukocyte count and morphology has led to the current recommendation that smears made from EDTA blood should be prepared within 4 h of sampling. However, previous studies have only been performed on smears with normal cell counts, and smears made from K2EDTA blood have not been studied in comparison with smears made from direct finger prick. The aim of this study was to investigate the time limit for performing a morphological assessment on smears from EDTA blood without compromising the results.
Blood samples from 37 patients with known or suspected abnormal leukocyte morphology were selected, with smears from direct finger prick used as controls. Smears were prepared from the original EDTA tube every 4 h up to 24 h after sampling. The smears were evaluated for differential count, morphological assessment, and smear quality scoring.
No significant difference in cell count was observed on smears made up to 12 h after sampling for neutrophils (p = 0.430), lymphocytes (p = 0.080), monocytes (p = 0.948) eosinophils (p = 0.398), basophils (p = 0.460), and blast cells (p = 0.239) compared to smears made by finger prick. However, smears prepared later than 8 h postsampling showed a significant increase in morphological changes.
A manual differential leukocyte count can be reliably performed on smears from EDTA blood within 12 h, whereas a comprehensive morphological assessment requires smears to be prepared within 8 h of sampling.
This study aimed to evaluate the analytical and diagnostic performance of the HemoCue 201 device by comparing venous EDTA, venous heparinized, and capillary blood samples.
The HemoCue 201 device was compared with an automated analyzer. Hemoglobin levels were measured from EDTA, heparinized, and capillary blood samples. Analytical performance was assessed using mean ± SD, paired t-test, intraclass correlation coefficient (ICC), and Bland–Altman plots. The CLIA 2025 criteria for acceptable error were applied to determine agreement. Diagnostic performance was determined via sensitivity, specificity, diagnostic effectiveness, positive predictive value (PPV), negative predictive value (NPV), and likelihood ratios.
The results showed excellent reliability with ICC values of 1.00 for both EDTA and heparinized, and 0.97 for capillary blood. Bland–Altman plots indicated small biases for EDTA (0.08 [−0.27 to 0.42]) and heparin (0.09 [−0.40 to 0.57]), but larger negative biases for capillary blood (−0.12 [−1.21 to 0.97]). According to CLIA 2025 criteria, 98% of EDTA and 95% of heparin samples were within the ±4% cut-off, whereas only 68% of capillary samples met this criterion. Diagnostic performance demonstrated strong potential as a rapid and reliable anemia screening tool due to its high sensitivity (100%) and NPV (100%).
The HemoCue 201 device reliably measured hemoglobin and detected anemia in all sample types. Heparinized blood, commonly used in point-of-care blood gas tests, can effectively support hemoglobin testing, reducing the need for additional blood draws. However, capillary samples exhibited greater bias, with variability influenced by pre-analytical factors. Standardized protocol and manufacturer guidelines helped minimize analytical variation.
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