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BCP-ALL of the XLA patients did not show a distinctive methylation profile. X-linked agammaglobulinemia, Bruton's tyrosine kinase, acute lymphoblastic leukemia, acute megakaryoblastic leukemia, tumor suppressor Keywords: X-linked agammaglobulinemia; Bruton's tyrosine kinase; acute lymphoblastic leukemia; acute megakaryoblastic leukemia; tumor suppressor EN X-linked agammaglobulinemia Bruton's tyrosine kinase acute lymphoblastic leukemia acute megakaryoblastic leukemia tumor suppressor 1277 1281 5 06/18/21 20210615 NES 210615 X-linked agammaglobulinemia (XLA) is an inborn error of immunity caused by pathogenic variants in I Bruton's tyrosine kinase i ( I BTK i ). Future studies in which many patients with XLA with leukemia are enrolled may be able to clarify the more detailed characteristics of leukaemic cells in XLA. [Extracted from the article]

Keywords: acute megakaryoblastic leukemia; Down syndrome; CLEC12A; TIM3; CD96 EN acute megakaryoblastic leukemia Down syndrome CLEC12A TIM3 CD96 e7 e11 5 12/21/20 20210101 NES 210101 Acute myeloid leukaemia (AML) is a genetically and clinically heterogeneous disease, characterized by expansion of undifferentiated myeloid precursor cells.1 Despite an increased understanding of the biology and therapeutic advances, the outcomes of AML patients remain unsatisfactory. The average CLEC12A-positive cell rate was significantly lower in FAB-M7 cases (10-8%) than that in non-FAB-M7 cases (91-8%, I P i = 2.8E-20; Fig 1C); however, the average TIM3-positive cell rate did not differ significantly between the two groups (67-5% vs. 62-1%, respectively, I P i = 0-66). The average CD96-positive cell rate was also significantly lower in samples from FAB-M7 patients (20-7%) than in those from non-FAB-M7 patients (59-5%, I P i = 0-0002). [Extracted from the article]

Mirror syndrome describes the association of fetal and placental hydrops with maternal edema. This case is the first reported case of mirror syndrome relative to fetal leukemia. We suggest that fetal leukemia can have a major impact on mirror syndrome, and provide a brief review of the literature related to this syndrome. [ABSTRACT FROM AUTHOR]

Key Clinical Message We describe a neonate with abdominal distension, massive hepatomegaly, and high serum neuron-specific enolase level suggestive of congenital neuroblastoma. The patient died of pulmonary hemorrhage after therapy. Autopsy revealed that the tumor cells in the liver indicated acute megakaryocytic leukemia with the RBM15- MKL1 fusion gene. [ABSTRACT FROM AUTHOR]

We encountered a case of neonatal acute megakaryoblastic leukemia not associated with Down syndrome ( DS). Molecular cytogenetic analysis of leukemic blast cells indicated that increased blast cell status was caused by transient abnormal myelopoiesis with trisomy 21 and GATA1 mutation. Based on these molecular cytogenetic data, intensive chemotherapy was avoided, and the patient was successfully cured with low-dose cytarabine. Morphologically, leukemic blast cells of acute megakaryoblastic leukemia in a non- DS neonate are indistinguishable from a blast cell of transient abnormal myelopoiesis. The possibility of transient abnormal myelopoiesis should be carefully considered before intensive chemotherapy is adopted. [ABSTRACT FROM AUTHOR]

Introduction The aim of this study was to characterize clinicopathological features of acute panmyelosis with myelofibrosis ( APMF), acute megakaryoblastic leukemia with myelofibrosis ( AMKL- MF), primary myelofibrosis ( PMF) and myelodysplastic syndrome with myelofibrosis ( MDS- MF) in order to provide the keys to the differential diagnosis of bone marrow ( BM) fibrosis. Methods We compared age, gender, splenomegaly, serum lactate dehydrogenase level, blood cell counts, blast counts in peripheral blood ( PB) and BM, megakaryocyte counts, BM cellularity, dysplasia, and the karyotypes of patients with APMF ( n = 6), AMKL- MF ( n = 7), PMF ( n = 44), and MDS- MF ( n = 44). Results APMF showed hyperplasia of all three lineages, increase in megakaryocyte count with dysplasia and frequent abnormal karyotypes. AMKL- MF was associated with elevated BM blast counts, decreased BM megakaryocyte count with rare megakaryocytic dysplasia and chromosome 21 abnormality. PMF patients displayed splenomegaly, rare blasts in PB/ BM, and JAK2 V617F mutation. MDS- MF patients showed pancytopenia, dysplasia in all three lineages and recurrent chromosomal abnormalities involving chromosome 5,7,12, and 17. Conclusions Although differential diagnosis among APMF, AMKL- MF, PMF, and MDS- MF is very challenging due to the overlapping clinical and morphological features, meticulous investigation of the patient with respect to splenomegaly, blood cell count, PB and BM findings, and karyotype will serve as a guide to correct diagnosis. [ABSTRACT FROM AUTHOR]

Mixed-lineage leukemia ( MLL) rearrangements are commonly observed in childhood acute lymphoblastic and myeloid leukemia, as well as therapy-related leukemia. However, the occurrence of MLL rearrangements in acute megakaryoblastic leukemia (AMKL) is very rare. We report a pediatric case of AMKL with the MLL-AF4 fusion transcript. MLL-AF4 is derived from t(4;11)(q21:q23) and occurs exclusively in B-cell lineage leukemia. To our knowledge, MLL-AF4 as well as t(4;11)(q21:q23) has not been reported in adult and childhood AMKL. Thus, our case provides new insight into the molecular mechanisms of MLL-AF4-associated leukemia. [ABSTRACT FROM AUTHOR]

Acute megakaryoblastic leukemia is a relatively rare form of acute leukemia that has heterogeneous blast morphology and karyotypic abnormalities. An 8-month-old boy with a retroperitoneal mass was diagnosed as having acute megakaryoblastic leukemia that initially presented as small round cell tumor of childhood. Bone marrow aspiration showed syncytial groups of atypical medium sized cells with scant cytoplasm and fine nuclear chromatin. Retroperitoneal mass biopsy showed several lymph nodes with cohesive clusters of neoplastic cells that demonstrated expression of Factor VIII. Flow cytometric analysis of the second bone marrow aspiration showed CD 61 positivity. Karyotypic analysis of bone marrow cells showed a novel translocation, (1;5)(q21;p13). [ABSTRACT FROM AUTHOR]