👤 Alireza Nasri

Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy and most often presents with an increase in the number of blasts in the peripheral blood and bone marrow. Although ALL typically presents with circulating blasts, atypical findings such as hypereosinophilia may obscure diagnosis and delay appropriate management. Severe eosinophilia in patients with ALL is a very rare phenomenon and is usually associated with specific genetic abnormalities or myeloid malignancies. The combination of severe eosinophilia, bicytopenia, and cardiac mass is unusual and challenging in diagnosis and treatment. A 4-year-old male patient, with no significant past or family history, presented to the emergency department with persistent fever. On initial examination, hepatosplenomegaly was evident. Blood tests showed WBC = 125,000cell per microliter, Hb = 8.7 g/dL, Plt = 77,000 per microliter, and severe eosinophilia (73.4%) absolute eosinophil count 91,250. A peripheral blood smear showed abundant mature eosinophils without blasts. Chest imaging showed bilateral pulmonary involvement, and ultrasonography showed bilateral pleural effusion. Echocardiography revealed a mass in the right ventricle suggestive of thrombus formation or infiltration, along with some degree of heart failure. Molecular tests for BCR-ABL, PDGFRα, PDGFRβ, FGFR1, and t (5:14) were negative, and bone marrow flow cytometry was also negative. Bone marrow biopsy with immunohistochemistry confirmed the diagnosis of Pre-B acute lymphoblastic leukemia with positive CD20 and TdT. The patient underwent protocol treatment and the MRD at the end of induction was reported to be 0.0011% and the biopsy was negative. The cardiac mass was also resolved during chemotherapy treatment. This case emphasizes the importance of noting unusual eosinophilia with bicytopenia, even in the absence of peripheral blasts, and the need for bone marrow biopsy and immunohistochemical examination for accurate diagnosis. Show less

Endometriosis is an inflammatory disease characterized by the presence of ectopic endometrial tissue, immune cell dysfunction and abnormal cytokine secretion. In addition to immunological factors, genetic variations that influence endometriosis severity and cytokine expression levels play important roles in the pathogenesis of this disease. Interleukin-12 (IL-12), specifically its p40 subunit encoded by IL-12B gene and the interleukin-12 receptor β1 (IL-12Rβ2) chain of its receptor, as well as interleukin-27 (IL-27) are important in the establishment of endometriosis. So, in this study, we measured IL-12 and IL-27 serum levels and investigated the possible links between IL-12B rs3212227, IL-12Rβ2 rs3790565 and IL-27 rs153109 polymorphisms and the risk of developing endometriosis in a group of Iranian women. In this case-control study, 162 endometriosis patients and 151 healthy women were included and tested for the aforementioned polymorphisms using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The enzyme-linked immunosorbent assay (ELISA) method was also used to measure IL-12 and IL-27 serum levels. Although there was no statistically significant association between the genotypes and alleles of the studied polymorphisms and the development of endometriosis in general, the AA genotype of IL-12B rs3212227 showed a significant association with uterine endometriosis when compared to AC+CC genotypes (p = .04, CI = 0.270-0.988, OR = 0.517). Indeed, the AA genotype of the IL-12B rs3212227 single nucleotide polymorphism (SNP) may be linked with a lower risk of developing uterine endometriosis. There was no significant difference in IL-27 levels between the two studied groups (p = .49), and IL-12 levels were undetectable in both groups. In conclusion, the AA genotype of IL-12B rs3212227 might be associated with a decreased risk of uterine involvement in endometriosis patients. Show less