MALIGNANCY MASQUERADING AS JOINT INFECTION- A CASE REPORT

ACUTE LYMPHOBLASTIC LEUKEMIA (ALL) is the most common malignancy in children. It accounts for 25% of all childhood cancers and approximately 75% of all cases of childhood leukemia. ALL presents usually with fever, lassitude, pallor, bone pains+/- bleeds. Here, we present a case of a child presenting with prolonged fever and swelling and pain in joints. Child was initially diagnosed as one hematological disorder and presented with joint effusion within a week.

Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis

An erythrocytosis is present when the red blood cell mass is increased, demonstrated as elevated hemoglobin and hematocrit in the laboratory evaluation. Congenital predispositions for erythrocytosis are rare, with germline variants in several genes involved in oxygen sensing (VHL, EGLN1, and EPAS1), signaling for hematopoietic cell maturation (EPOR and EPO), and oxygen transfer (HBB, HBA1, HBA2, and BPGM) that were already associated with the eight congenital types (ECYT1–8). Screening for variants in known congenital erythrocytosis genes with classical sequencing approach gives a correct diagnosis for only up to one-third of the patients. The genetic background of erythrocytosis is more heterogeneous, and additional genes involved in erythropoiesis and iron metabolism could have a putative effect on the development of erythrocytosis. This study aimed to detect variants in patients with yet unexplained erythrocytosis using the next-generation sequencing (NGS) approach, targeting genes associated with erythrocytosis and increased iron uptake and implementing the diagnostics of congenital erythrocytosis in Slovenia. Selected 25 patients with high hemoglobin, high hematocrit, and no acquired causes were screened for variants in the 39 candidate genes. We identified one pathogenic variant in EPAS1 gene and three novel variants with yet unknown significance in genes EPAS1, JAK2, and SH2B3. Interestingly, a high proportion of patients were heterozygous carriers for two variants in HFE gene, otherwise pathogenic for the condition of iron overload. The association between the HFE variants and the development of erythrocytosis is not clearly understood. With a targeted NGS approach, we determined an actual genetic cause for the erythrocytosis in one patient and contributed to better management of the disease for the patient and his family. The effect of variants of unknown significance on the enhanced production of red blood cells needs to be further explored with functional analysis. This study is of great significance for the improvement of diagnosis of Slovenian patients with unexplained erythrocytosis and future research on the etiology of this rare hematological disorder.

Allogeneic transplantation in autoimmune disease and bone marrow aplasia - case report

Ulcerative rectocolitis (UC) is an inflammatory bowel disease of unknown etiology that mainly affects the mucosa of the rectum and colon. Anemia is the most common hematological disorder in patients with UC and may be due to multiple causes such as blood loss, malabsorption, chronic illness and infection. We present a case report, in which UC and severe aplastic anemia (ASA) occur concomitantly, suggesting a common immune compromise between such pathologies.

Transient Neutropenia in Immunocompetent Infants with Respiratory Syncytial Virus Infection

The incidence of neutropenia and the association between neutropenia and severity of respiratory symptoms among infants with respiratory syncytial virus (RSV) infections remain to be elucidated. This single-center, retrospective study included immunocompetent infants (<10 months old) with laboratory-confirmed RSV infection admitted to our center between January 2012 and December 2019. Incidence of neutropenia (<1.0 × 109/L) within 10 days of onset and risk factors associated with subsequent neutropenia were evaluated. Among the 292 infants with RSV infection, including 232 (79%) with mild infection, neutropenia was observed in 31 (11%), with severe neutropenia (<0.5 × 109/L) in 3 (1.0%). No neutropenic infants developed serious infection or hematological disorder. Infants without neutropenia showed age <3 months at onset in 34%, C-reactive protein level <1.0 mg/L in 27%, and nasopharyngeal microbiota composition with any of Moraxella catarrhalis, Streptococcus pneumoniae, or Haemophilus influenzae in 63%. In comparison, infants with neutropenia showed age <3 months at onset in 74% (relative risk [RR] 2.15; 95% confidence interval [CI] 1.65–2.81), C-reactive protein level <1.0 mg/L in 55% (RR 2.02; 95% CI 1.38–2.94), and microbiota including Moraxella catarrhalis, Streptococcus pneumoniae, or Haemophilus influenzae in 15% (RR 0.24; 95% CI 0.10–0.61). Multiple logistic regression analyses showed that younger age at onset and absence of that nasopharyngeal microbiota profile were associated with development of neutropenia. In conclusion, age and airway microbiota are considered as risk factors for the development of transient neutropenia among infants with RSV infection. However, the neutropenia seems not to develop serious infection or hematological disorder.

UNUSUAL LEUKEMOID REACTION IN A COVID-19 PATIENT: A CASE REPORT

A leukemoid reaction is a hematological disorder in which the White Blood Cells (WBCs) count may rise more than 50,000 per micro liter (μL) accompanied by an increase in Neutrophil precursors. The incidence of this reaction is uncertain. This looks like blood cancer but it is caused by reasons outside bone marrow like severe infections, drug reactions, intoxication, ischemia, inflammation and stress. The WBCs count falls back to normal once this cause is eradicated so we present an unusual case of leukemoid reaction with very high WBCs in a COVID19 patient to create awareness among physicians dealing with such cases.