Acute myeloid leukemia (AML) is a hematologic malignancy characterized by the rapid and uncontrolled clonal growth of myeloid lineage cells in the bone marrow. The advent of oral, selective inhibitors of the B-cell leukemia/lymphoma-2 (BCL-2) apoptosis pathway, such as venetoclax, will likely induce a paradigm shift in the treatment of AML. However, the high cost of this treatment and the risk of additive toxicity when used in combination with standard chemotherapy represent limitations to its use and underscore the need to identify which patients are most—and least—likely to benefit from incorporation of venetoclax into the treatment regimen. Bone marrow specimens from 93 newly diagnosed AML patients were collected in this study and evaluated for BCL-2 protein expression by immunohistochemistry. Using this low-cost, easily, and readily applicable analysis method, we found that 1 in 5 AML patients can be considered as BCL-2−. In addition to a lower bone marrow blast percentage, this group exhibited a favorable molecular profile characterized by lower WT1 expression and underrepresentation of FLT3 mutations. As compared to their BCL-2+ counterparts, the absence of BCL-2 expression was associated with a favorable response to standard chemotherapy and overall survival, thus potentially precluding the necessity for venetoclax add-on.
Background and Clinical Significance: Vitamin B12 deficiency in infancy is an uncommon but reversible cause of severe hematologic abnormalities and potential neurologic injury, particularly in exclusively breastfed infants whose vitamin B12 status depends on maternal stores. Because its clinical presentation may mimic bone marrow failure syndromes or hematologic malignancies, diagnosis can be challenging and delayed; Case Presentation: We report a case of early infantile pancytopenia ultimately attributed to profound vitamin B12 deficiency secondary to maternal celiac disease. Prompt recognition and treatment with cobalamin supplementation resulted in rapid hematologic recovery and a favorable clinical outcome; Conclusions: This case underscores the importance of considering vitamin B12 deficiency in the differential diagnosis of unexplained cytopenias in infants and highlights the critical role of maternal nutritional status in neonatal health. Improved awareness and targeted screening of at-risk mothers during pregnancy and lactation may prevent severe but readily treatable complications in affected infants.
COVID-19 induces haemocytometric changes. Complete blood count changes, including new cell activation parameters, from 982 confirmed COVID-19 adult patients from 11 European hospitals were retrospectively analysed for distinctive patterns based on age, gender, clinical severity, symptom duration and hospital days. The observed haemocytometric patterns formed the basis to develop a multi-haemocytometric-parameter prognostic score to predict, during the first three days after presentation, which patients will recover without ventilation or deteriorate within a two-week timeframe, needing intensive care or with fatal outcome. The prognostic score, with ROC curve AUC at baseline of 0.753 (95% CI 0.723-0.781) increasing to 0.875 (95% CI 0.806-0.926) on day 3, was superior to any individual parameter at distinguishing between clinical severity. Findings were confirmed in a validation cohort. Aim is that the score and haemocytometry results are simultaneously provided by analyser software, enabling wide applicability of the score as haemocytometry is commonly requested in COVID-19 patients.
Vitamin B12 deficiency in infancy is an uncommon but reversible cause of severe hema-tologic abnormalities and potential neurologic injury, particularly in exclusively breastfed infants whose vitamin B12 status depends on maternal stores. Because its clinical presentation may mimic bone marrow failure syndromes or hematologic malignancies, diagnosis can be challenging and delayed. We report a case of early infantile pancytopenia ultimately attributed to profound vitamin B12 deficiency secondary to maternal celiac disease. Prompt recognition and treatment with cobalamin supplementation resulted in rapid hematologic recovery and favorable clinical outcome. This case underscores the importance of considering vitamin B12 deficiency in the differ-ential diagnosis of unexplained cytopenias in infants and highlights the critical role of maternal nutritional status in neonatal health. Improved awareness and targeted screen-ing of at-risk mothers during pregnancy and lactation may prevent severe but readily treatable complications in affected infants.