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The article focuses on differentiation syndrome in acute promyelocytic leukemia (APL) and the role of Auer rods in identifying maturing promyelocytes during treatment. Topics include the unique persistence of Auer rods during differentiation, the significance of ATRA-ATO therapy in inducing promyelocyte maturation, and the importance of distinguishing differentiation-related changes from poor treatment response.

The article presents a case study of a 72-year-old male with severe pancytopenia. Topics include Trephine roll revealing multiple large cells with high nuclear-cytoplasmic ratio, pale blue-gray cytoplasm, open nuclear chromatin, and cytoplasmic blebs, and resembling megakaryoblasts; and characterized by an increase in primitive megakaryoblasts and myelofibrosis.

The article explores Acute myeloid leukemia (AML) with inv(16)(p13q22)/t(16;16) (p13;q22) has distinct clinicopathologic features, including myelomonocytic leukemic cells, abnormal bone marrow eosinophils, and a relatively favorable prognosis.1,2 Most cases are classified as AML M4 with abnormal eosinophils (M4Eo) in the French-AmericanBritish (FAB) classification.

Introduction: Accurate detection of GATA1 mutation is highly significant in patients with acute myeloid leukemia (AML) and trisomy 21 as it allows optimization of clinical protocol. This study was aimed at (a) enhanced search for GATA1 mutations; and (b) characterization of molecular landscapes for such conditions. Methods: The DNA samples from 44 patients with newly diagnosed de novo AML with trisomy 21 were examined by fragment analysis and Sanger sequencing of the GATA1 exon 2, complemented by targeted high‐throughput sequencing (HTS). Results: Acquired GATA1 mutations were identified in 43 cases (98%). Additional mutations in the genes of JAK/STAT signaling, cohesin complex, and RAS pathway activation were revealed by HTS in 48%, 36%, and 16% of the cases, respectively. Conclusions: The GATA1 mutations were reliably determined by fragment analysis and/or Sanger sequencing in a single PCR amplicon manner. For patients with extremely low blast counts and/or rare variants, the rapid screening with simple molecular approaches must be complemented with HTS. The JAK/STAT and RAS pathway‐activating mutations may represent an extra option of targeted therapy with kinase inhibitors. [ABSTRACT FROM AUTHOR]

Abstract: Childhood acute lymphoblastic leukemia is one of the most frequent cancers of that age range. Tremendous progress has been achieved in the treatment of these diseases, and increasing numbers of patients are actually cured and live normal lives thereafter. The treatment however remains a complex and serious ordeal. Although statistics are more than encouraging, the specific care of any given patient must be considered with a personalized approach. Among modern tools of disease monitoring, minimal residual disease assessment has earned increasing appeal and now tends to be rather dubbed “measurable” residual disease as the major goal of therapy was the complete eradication of the pathological clone. In this review, the basic characteristics of ALL diagnosis will be briefly recalled, before summarizing available techniques and providing some considerations on the clinical relevance and strategies of childhood ALL MRD evaluation. [ABSTRACT FROM AUTHOR]

Noonan-like syndrome with loose anagen hair (NSLH), also known as Mazzanti syndrome, is a RASopathy characterized by craniofacial features resembling Noonan syndrome, cardiac defects, cognitive deficits and behavioral issues, reduced growth generally associated with GH deficit, darkly pigmented skin, and an unique combination of ectodermal anomalies. Virtually all cases of NSLH are caused by an invariant and functionally unique mutation in SHOC2 (c.4A>G, p.Ser2Gly). Here, we report on a child with molecularly confirmed NSLH who developed a neuroblastoma, first suspected at the age 3 months by abdominal ultrasound examination. Based on this finding, scanning of the SHOC2 coding sequence encompassing the c.4A>G change was performed on selected pediatric cohorts of malignancies documented to occur in RASopathies (i.e., neuroblastoma, brain tumors, rhabdomyosarcoma, acute lymphoblastic, and myeloid leukemia), but failed to identify a functionally relevant cancer-associated variant. While these results do not support a major role of somatic SHOC2 mutations in these pediatric cancers, this second instance of neuroblastoma in NSLAH suggests a possible predisposition to this malignancy in subjects heterozygous for the c.4A>G SHOC2 mutation. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Introduction Unreported parameters produced by automated blood cell counter, particularly large unstained cells ( LUC) and delta neutrophil index ( DNI), indicated the presence of immature and possibly abnormal cell populations in white blood cell population. The purpose of this study was to investigate the laboratory performance for discrimination of acute promyelocytic leukemia ( APL) cells from other types of leukemia cells and clinical value of LUC and DNI parameters in bone marrow ( BM) samples of patients with acute leukemia. Methods A total of 73 BM samples of patients with various type of acute leukemia were analyzed. LUC and DNI parameters were determined by an automated hematology analyzer (ADVIA 120; Siemens Healthcare Diagnostics, New York, NY, USA). Statistical analysis was performed using Kruskal-Wallis and Mann-Whitney U methods. Receiver operating characteristic curve ( ROC) analysis, survival analysis, and Cox proportional hazard model were used to evaluate the clinical implication. Results There were significant differences ( P < 0.05) between APL group and other group in the DNI and LUC values except for DNI between APL group and non- APL myeloid leukemia group. The area under curve of LUC was larger than that of DNI from the ROC analysis for discrimination between APL group and other group. High LUC value was associated with the increased risk of adverse outcomes and the worse overall survival in patients with acute leukemia. Conclusion Delta neutrophil index and LUC in BM showed discriminating power of APL cells from other leukemia cells. [ABSTRACT FROM AUTHOR]

There exists increasing evidence that apart from solid tumors, angiogenic growth factors also play important roles in the development and/or maintenance of hematolymphoid malignancies. Thus, in these cancers, angiogenesis and bone marrow microvessel density often correlate with prognosis and disease burden. Several reports speculated on the role of angiogenesis and the resulting possible therapeutic options in hematologic malignancies. The most prominent angiogenic factor, vascular endothelial growth factor ( VEGF), is expressed in a number of established leukemic cell lines as well as in freshly isolated human leukemias and lymphomas, and several human leukemias express VEGF receptor 1 and/or VEGF receptor 2. VEGF/ VEGF-receptor interactions are also involved in proliferation, migration, and survival of leukemic cells by autocrine and paracrine mechanisms. As a consequence, a possible drugable effect by inhibiting VEGF signaling in different hematologic malignancies has been discussed. This review focuses on angiogenesis-independent effects of VEGF on survival and proliferation of leukemic or lymphoma cells and on possible therapeutic approaches using anti- VEGF/ VEGF-receptor therapies to inhibit proliferation or induce apoptosis of malignant cells in hematologic diseases. [ABSTRACT FROM AUTHOR]

In this study, we examined the P15INK4B gene promoter methylation in patients with myelodysplastic syndrome and acute leukemia and its possible relationship with parvovirus B19 and Epstein–Barr virus infections. P15INK4B methylation frequency was significantly higher in acute leukemia patients than in that of non-malignant patients ( P < 0.05). When the patients with myelodysplastic syndrome were included, no significant difference was found between these groups regarding the methylation status. The possible correlation between P15INK4B promoter methylation and parvovirus B19 infection was observed in adult acute leukemia patients ( P < 0.05). However, no similar relationship in EBV-infected patients was observed. To the best of our knowledge, this is the first report showing the possible association between P15INK4B promoter methylation and parvovirus B19 infection in acute leukemia. [ABSTRACT FROM AUTHOR]