Background: Protective isolation is essential for preventing infection in patients undergoing hematopoietic stem cell transplantation (HSCT). However, it is associated with significant psychosocial morbidity. Understanding the factors influencing isolation perception and its impact on care satisfaction is crucial, particularly in resource-limited settings. Methods: This cross-sectional observational study enrolled 47 adults who underwent autologous or allogeneic HSCT at a tertiary care center in India. Perceptions of isolation and satisfaction with care were measured using validated ISOLA and FAMCARE-P16 scales, respectively. Data were analysed using correlation, multivariate regression and mediation analyses. Results: Cluster analysis revealed that nearly half of the patients experienced a high-isolation (48.9%) and low-satisfaction (46.8%) profile. Multivariate regression identified that having a non-partner caregiver was the strongest predictor of higher perceived isolation (B = 5.62, p = 0.002). Regarding satisfaction, being unmarried was the most significant predictor of lower satisfaction (B = -24.66, p < 0.001), followed by non-Hindu religion, allogeneic transplant and poorer relationships with others. Critically, mediation analysis revealed that the effect of caregiver type on satisfaction was fully mediated by the patient's perceived relationship with others (indirect effect: -2.71, 95% confidence intervals: -6.22 to-0.41). Conclusion: A significant proportion of HSCT recipients experience a detrimental combination of high isolation and low satisfaction. In this exploratory study, the finding that a partner caregiver may improve satisfaction by mitigating relational alienation highlights a modifiable psychosocial target. Clinical strategies should focus on screening high-risk patients and implementing interventions to strengthen social connections for those without partners or caregivers; however, larger studies are needed to confirm these findings.

Bone marrow sampling [including bone marrow aspirate (BMA), trephine biopsy touch imprint (BMI), and the bone marrow trephine biopsy (BMBx)] is a very important test in the diagnosis and/or follow-up monitoring of both hematological and many non-hematological conditions. A synoptic report for BMA/BMI cytology aims to bring homogeneity in reporting among pathologists/laboratory hematologists/hematopathologists across academic and practicing centres, and ensure completeness in communicating with clinicians with actionable suggestions. The essence of such reporting format is to bring out the accuracy in reporting that will incorporate treating physician/hematologist’s perspective, essential patient related clinical information gathered and documented during bone marrow sampling, careful interpretation of freshly prepared and stained peripheral blood smear (PBS) morphology, recent complete blood count parameters, and meticulous evaluation of hematopoietic and non-hematopoietic elements in the bone marrow. The integrated PBS-BMA-BMI report should be made available in a time bound manner maintaining reasonable turnaround time. It should be clear and comprehensive, and every attempt should be made to offer preliminary vital diagnostic information regarding the underlying disease process wherever possible; suggest requisite routine and/or specialized ancillary testing; and finally guide the treating physician for further plan of patient management. The BMA-BMI reporting should be followed-up with that of BMBx, preferably, by the same reporting personnel. This ICH-ISHBT taskforce consensus document on BMA and BMI synoptic reporting intends to address the above issues, bring out homogeneity, and improve the quality of patient care at par with national and international standards.

BACKGROUND:Systemic mastocytosis (SM) with associated acute myeloid leukemia (AML) is a rare malignancy usually linked to KIT p.D816V mutations. OBSERVATIONS:We report a 17-year-old female with RUNX1::RUNX1T1 -positive AML and florid mast cell proliferation harboring a rare KIT exon 8 deletion (p.Asp419del). Diagnosis required integration of morphology, immunophenotyping, and polymerase chain reaction, as routine NGS failed to detect the mutation. Despite remission following intensive chemotherapy and imatinib, the patient developed persistent mastocytosis and succumbed to septic shock. CONCLUSIONS:This first reported case of SM-AML with KIT p.Asp419del highlights the need for comprehensive molecular testing and tailored therapy in atypical presentations.

Background: Multiple myeloma is a heterogeneous malignancy with patchy bone marrow involvement, often leading to discrepancies between biochemical and imaging-based response assessments. Site-specific bone marrow biopsies may miss focal disease, while FDG PET/CT detects metabolically active lesions, offering complementary prognostic value. Materials and Methods: This prospective study included 44 newly diagnosed multiple myeloma patients. The primary aim was to assess the correlation between biochemical and PET/CT responses at six months post-induction. A secondary objective was to evaluate the impact of PET/CT response on 12-month EFS. Results: The median age was 55.5 years. At baseline, >3 focal lesions and EMD were observed in 61.4% and 34.1% of patients, respectively. After six months of induction therapy, 86.3% achieved ≥VGPR biochemically, but 52.3% remained PET/CT-positive. Baseline >3 focal lesions and extramedullary disease (EMD) significantly predicted persistent PET/CT positivity (p = 0.004). Notably, 50% of patients with ≥VGPR (very good partial response) still showed PET/CT-positive findings. At 12 months, 75% of patients with clinical events had positive PET/CT at six months versus 47.2% without events (p = 0.245). Event-free survival was lower in the PET/CT-positive group (73.9% vs. 90.4%, p = 0.182), though not statistically significant. Conclusion: 18-FDG PET/CT can detect residual disease not captured by biochemical markers, highlighting the value of combined assessment in multiple myeloma. Baseline >3 focal lesions and EMD predicted persistent PET/CT positivity. Although PET/CT positivity at six months showed a trend toward worse 12-month EFS, larger studies are needed to confirm its prognostic significance.

Inherited anemias (IA) encompass a diverse group of genetic disorders. While conventional diagnostic tools such as hemoglobin electrophoresis, enzyme assays, and specialized RBC membrane tests identify many cases, a subset of patients remains uncharacterized after exhaustive evaluation. This study aimed to elucidate the genetic basis of such cases using next-generation sequencing (NGS). We retrospectively analyzed 54 patients with unexplained anemia over three years at a single tertiary center in North India. All patients underwent detailed clinical, hematological, and biochemical evaluation, followed by targeted molecular testing. Those who remained undiagnosed were subjected to clinical exome or targeted panel sequencing. Variants were classified according to ACMG guidelines. A total of 71 variants were identified, including 27 pathogenic, 19 likely pathogenic, and 25 variants of uncertain significance. Missense mutations predominated (n = 47), followed by splice-site and frameshift changes. Variants were associated with hemoglobinopathies (n = 24), membranopathies (n = 15), enzymopathies (n = 13), congenital dyserythropoietic anemia (n = 10), ADA2 deficiency (n = 3), sitosterolemia (n = 5), and methemoglobinemia (n = 1). Multiple variants were detected in several patients, highlighting genetic complexity. Thalassemias remained the most frequent diagnosis, but hereditary spherocytosis, pyruvate kinase deficiency, and rare syndromes were also well represented. Our findings demonstrate that NGS significantly enhances diagnostic yield in uncharacterized IA, uncovering both common and rare pathogenic variants. The spectrum observed underscores the necessity of integrating NGS into routine diagnostic algorithms, particularly in resource-limited settings where conventional assays may be inconclusive. Genotype–phenotype correlation remains essential, especially in cases with multiple or uncertain variants.

BACKGROUND:BCR-ABL1-negative myeloproliferative neoplasms (MPNs) often exhibit overlapping clinical and morphological features, making accurate subcategorization challenging. The h-MICL (CD371) antigen, selectively expressed on leukemic stem cells (LSCs) and absent on CD34+CD38- cells in normal or regenerating marrow, represents a potential diagnostic and prognostic marker. OBJECTIVES:This study aimed to evaluate the diagnostic utility of circulating CD34+CD38-h-MICL+ cells in subtyping BCR-ABL1-negative MPNs and to assess their correlation with the Dynamic International Prognostic Scoring System (DIPSS) score. Additionally, to identify a cut-off value of CD34+CD38-h-MICL+ cells that can effectively differentiate PMF. METHODS:Fifty-four patients with BCR-ABL1-negative MPNs were prospectively enrolled at a tertiary care center in North India over 18 months. Peripheral blood was analyzed via flow cytometry to quantify CD34+, CD34+CD38+, CD34+CD38-, and CD34+CD38-h-MICL+ cell subsets. RESULTS:A significant increase in circulating CD34+CD38-h-MICL+ cells was observed in patients with overt MF (median 2.8%), prefibrotic MF (4.15%), and post-PV/ET MF (3%) compared to PV and ET (median 0%; p < 0.001). A threshold of ≥ 0.9% CD34+CD38-h-MICL+ cells effectively identified MF cases with 88% sensitivity and 89% specificity. Moreover, a positive correlation was found between the percentage of CD34+CD38-h-MICL+ cells and DIPSS score (ρ = 0.41, p = 0.036), with every 1.72% increase in this cell population corresponding to a 1-point rise in DIPSS score. CONCLUSION:Circulating CD34+CD38-h-MICL+ cells represent a promising biomarker; their quantification may aid in subclassification, particularly in distinguishing prefibrotic MF from ET, and may serve as a potential target for future therapeutic strategies. Further validation in larger cohorts is warranted.

JAK2-unmutated erythrocytosis (JUE) is a rare condition with diverse genetic causes. Data on Indian patients with JUE are limited. This study evaluated the clinical and laboratory characteristics of young Indian males with isolated erythrocytosis and identified underlying molecular defects using Sanger sequencing. This ambispective study enrolled 100 males aged ≤ 40 years with persistent erythrocytosis (hemoglobin > 16.5 g/dL or hematocrit ≥ 0.52), documented on at least two occasions. Patients with JAK2 V617F mutation, secondary causes, or myeloproliferative neoplasms were excluded. Clinical assessment included symptoms, family history, and risk factors. Laboratory tests included blood counts, serum erythropoietin, bone marrow examination, and imaging. Sanger sequencing targeted exons of EPOR, VHL, EGLN1, EPAS1, HBB, HBA1, HBA2, and BPGM. Median age was 29 years (range: 17–40). Hemoglobin ranged 16.5–24.1 g/dL, with mean hematocrit 53.7

Bone marrow aspirate and trephine biopsy examinations are indispensable components of the diagnostic workup for a wide spectrum of hematological and non-hematological disorders. An ideal bone marrow report should provide a comprehensive and integrated evaluation of all available specimens, including aspirate smears, imprint (touch) preparations, cytochemistry, and trephine biopsy sections. It should also indicate the need for further appropriate ancillary investigations such as immunophenotypic, cytogenetic, and molecular studies when indicated. These findings should be interpreted in conjunction with the clinical history and other relevant laboratory data to ensure an accurate, meaningful, and clinically relevant diagnosis, facilitate therapeutic decision-making, and support optimal patient management. This document provides practical recommendations for developing a standardized synoptic reporting format for bone marrow biopsy. The proposed framework is intended to be practical, reproducible, and readily implementable, thereby promoting uniformity, consistency, and quality in bone marrow reporting across India.

Minimal residual disease (MRD) assessment by multiparameter flow cytometry is an important prognostic tool in acute myeloid leukemia (AML). However, implementation in resource-constrained settings remains challenging. In this study, we evaluated the feasibility and clinical utility of a streamlined multiparameter flow cytometry approach for MRD detection in AML in a tertiary care setting. This single-centre study included 43 AML patients undergoing MRD assessment using a streamlined two-tube, eight-color flow cytometry panel incorporating leukemiaassociated immunophenotype (LAIP) and different-from-normal (DfN) strategies. MRD positivity was defined as ≥ 0.1

Key Points A novel clinical phenotype of VEXAS in the form of periarteritis and large vein phlebitis with a waxing, waning course has been reported. Absence of prominent vacuolations in the myeloid precursors does not rule out a diagnosis of VEXAS. Genetic testing should be performed in suspected cases of VEXAS in an appropriate clinical setting, even in the absence of conspicuous bone marrow findings.

Examination of the peripheral blood smear (PBS) is an integral component of hematologic evaluation that complements the complete blood count (CBC) and red blood cell indices in the initial assessment of most patients with suspected or established hematologic disorders. A well-prepared PBS provides critical diagnostic information regarding the formed elements of blood, often suggesting specific disease categories, guiding further investigations, and in selected conditions, prompting urgent clinical intervention. The PBS also serves additional roles: it is an important quality assurance tool for validating automated analyzer results, helps to identify spurious counts and instrument artifacts, and supports competency-based training in morphology for resident doctors and fellows. Manual microscopic review of Romanowsky-stained smears remains the reference standard for detailed morphological assessment of a blood film, particularly in complex or flagged cases. This remains true despite major advances in automated hematology analyzers and more recently, digital morphology platforms. Given the central role of the PBS and the variability that currently exists in PBS reporting formats and terminology, there is a need for harmonized, practical guidance on synoptic reporting that can be applied across diverse laboratory settings. Synoptic reporting, i.e., the use of structured headings and checklists to capture essential morphological and interpretive elements, and not missing important findings has been shown to improve report completeness, consistency, educational value, and turnaround time, while reducing typographical and omission errors. These recommendations aim to address this gap by proposing a structured, yet flexible, synoptic format for PBS reporting that aligns with the current state of knowledge and with international recommendations for morphological nomenclature and grading.

Cardiac tamponade is a rare but serious complication of tyrosine kinase inhibitor (TKI) therapy in chronic myeloid leukemia (CML). While dasatinib is more frequently associated with serosal inflammation, imatinib-induced tamponade remains an uncommon clinical event. A 31-year-old woman with chronic phase CML on long-term imatinib therapy presented with symptoms of cardiac tamponade. Pericardiocentesis revealed exudative lymphocyte-predominant effusion, with negative infectious and malignant workup. Imatinib was discontinued, leading to complete clinical resolution. She was later initiated on nilotinib with no recurrence and sustained deep molecular remission. This case underscores the importance of recognizing imatinib-induced serosal complications. Prompt drug discontinuation and substitution with a second-generation TKI can lead to complete resolution while preserving disease control.

Primary Hypertrophic Osteoarthropathy (PHO) demonstrates variable inherited penetrance, and clinical expression. The identification of SLCO2A1 (solute carrier organic anion transporter family member 2A1), HPGD(Hydroxyl prostaglandin dehydrogenase) has provided new insights into its pathophysiology. These discoveries have facilitated diagnosis, particularly in paediatric population. This study emphasises genetic level diagnostic approach alongside therapeutic interventions. A prospective, multicentric study was conducted at two tertiary care centre. Eight PHO cases were identified after excluding all other causes of transfusion-dependent microcytic hypochromic anaemia. Genetic mutation in the genes SLCO2A1, HPGD were studied. All patients received treatment with etoricoxib and steroid therapy, were followed up for one year. In our cohort, all were males. Six patients had classical phenotypic expression. Three had prominent gastrointestinal manifestations. Two paediatric patients had family history of transfusion-dependent anaemia. All had homozygous recessive SLCO2A1 mutation. Five patients experienced transient improvement in form of transfusion-free period, decrease in spleen size, and reduced arthralgia, fatigue. Three patients didn’t demonstrate any major therapeutic benefit. Clinicians should maintain high index of suspicion for PHO in young patients presenting with transfusion-dependent microcytic anaemia, particularly after excluding all inherited, acquired causes. Although etoricoxib, steroids show therapeutic promise. Further extensive research is necessary to establish their efficacy, safety.

Nutritional anaemias are on the rise in India despite several control programs. Haemoglobin synthesis needs iron, vitamin B12, folic acid, and a source of complete protein (containing all essential amino acids). While we were focusing on iron deficiency only, in reality, one or more nutrients needed for haemoglobin synthesis may be missing from the diet due to lack of awareness, empowerment, and marginalisation issues. Therefore, nutritional anaemias represent the tip of the iceberg of clinical and subclinical malnutrition in our scenario, in a vast majority of patients. There are several myths on nutrition and a balanced diet, rooted in cultural, religious, and regional factors. In the developed countries, these nutritional deficiencies are more often due to physiologically or pathologically increased need or due to malabsorption or increased losses of the nutrients involved or blood loss, which are equally important concerns in our scenario too. To make a beginning, we need to work on creating awareness on a balanced diet, removing false beliefs and wrong practices related to food items. Equally important for a sustainable solution is to empower the people through social, economic, and agricultural reforms, and policy changes, for consuming a balanced diet.Other social aspects of malnutrition, including poor management of human and financial resources, wrong influences on the people by advertisements, and the growing fast-food culture, need to be addressed. Patients of anemia need to be evaluated with proper investigations in an algorithmic approach, especially when nutritional supplementation is producing sub optimal results. Other causes of anemia including hemoglobinopathies, malnutrition associated, anemia of chronic disease need to be investigated. For iron deficiency, treating the underlying cause of excessive blood loss is essential. All this will go a long way to achieve the goal of anaemia-free India.