A new adult AML case with an extremely complex karyotype, remission and relapse combined with high hyperdiploidy of a normal chromosome set in secondary AML

ConclusionsTo the best of our knowledge, a comparable adult AML associated with such a CK, coexistence of 3q rearrangements with loss ofTP53 at diagnosis, and HH in secondary AML were not previously reported. Thus, the combination of the here seen chromosomal aberrations in adult primary AML seems to indicate for an adverse prognosis.
Source: BMC Hematology - Category: Hematology Source Type: research

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DISCUSSION: Although the clinical significance of variant t(8;21) is not well delineated, the evaluation of 31 such cases suggests patients with variant t(8;21) have similar prognosis to those with classical t(8;21). PMID: 31901918 [PubMed - in process]
Source: Malaysian Journal of Pathology - Category: Pathology Tags: Malays J Pathol Source Type: research
Rationale: The success of tyrosine kinase inhibitor (TKI) therapy has greatly prolonged the survival time of patients with chronic myeloid leukemia (CML), harboring the characteristic Philadelphia (Ph) chromosome. However, a fraction of patients, achieving complete cytogenetic response after TKI therapy, develop a myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) with additional clonal chromosomal abnormalities in Philadelphia-negative cells (CCA/Ph–). Patient concerns: A 56-year-old woman with AML, developing from Philadelphia-negative CML after TKI therapy. She showed 6 kinds of somatic variants&m...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
We report a 62-year-old woman with acute myeloid leukemia with monocytic features and a normal karyotype noted to have erythrophagocytosis by leukemic blasts. PMID: 32063774 [PubMed]
Source: Baylor University Medical Center Proceedings - Category: Universities & Medical Training Authors: Tags: Proc (Bayl Univ Med Cent) Source Type: research
CONCLUSIONS: Fenretinide exerts an obvious effect on AML cells both in vitro and in vivo. Besides, the NR4A1-mediated signaling pathway is highly involved in the fenretinide-induced apoptosis of AML cells.
Source: Journal of Cancer - Category: Cancer & Oncology Authors: Tags: Research Paper Source Type: research
Hypomethylation level ofMIR ‐378 was significantly higher in myelodysplastic syndrome (MDS) patients than that in controls (p = .034).MIR ‐378‐hypomethylated patients had significantly shorter overall survival than those withoutMIR ‐378 hypomethylation (p = .036). Both Kaplan–Meier and Multivariate Cox analyses confirmed that hypomethylation ofMIR ‐378 5 ’‐flanking region is an adverse prognosticator in MDS, particularly in patients
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
AbstractChromosomal inversion and translocation between 3q21 and 3q26 [inv (3)(q21.3q26.2) and t(3;3)(q21.3;q26.2), respectively] give rise to acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), which have poor prognoses. The chromosomal rearrangements reposition aGATA2 distal hematopoietic enhancer from the original 3q21 locus to theEVI1 (also known asMECOM) locus on 3q26. Therefore, theGATA2 enhancer from one of twoGATA2 alleles drivesEVI1 gene expression in hematopoietic stem and progenitor cells, which promotes the accumulation of abnormal progenitors and induces leukemogenesis. On the other hand, one alle...
Source: IUBMB Life - Category: Research Authors: Tags: CRITICAL REVIEW Source Type: research
Authors: Gao M, Pang H, Kim YM, Lu X, Wang X, Lee J, Wang M, Meng F, Li S Abstract Translocation (9;11)(p21.3;q23.3) is one of the most common lysine methyltransferase 2A (KMT2A)-rearrangements in de novo and therapy-related acute myeloid leukemia (AML). Numerous in vitro and in vivo studies have demonstrated that the KMT2A/MLLT3 super elongation complex subunit (MLLT3) fusion gene on the derivative chromosome 11 serves a crucial role in leukemogenesis. Trisomy 9 as a secondary chromosome change in patients with t(9;11) is relatively rare. The present study reported a unique case of AML with a chromosome 9 trisomy ...
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
i Acute myeloid leukemia (AML), the most common acute leukemia in adults, is a heterogeneous malignant clonal disorder arising from multipotent hematopoietic progenitor cells characterized by genetic and concerted epigenetic aberrations. Core binding factor-Leukemia (CBFL) is characterized by the recurrent reciprocal translocations t(8;21)(q22;q22) or inv(16)(p13;q22) that, expressing the distinctive RUNX1-RUNX1T1 (also known as Acute myeloid leukemia1-eight twenty-one, AML1-ETO or RUNX1/ETO) or CBFB-MYH11 (also known as CBFβ-ΣMMHX) translocation product respectively, disrupt the essential hematopoie...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research
Integrated transcriptomic and epigenetic data analysis identifiesaberrant expression of genes in acute myeloid leukemia with MLL‑AF9 translocation. Mol Med Rep. 2019 Nov 26;: Authors: Wang F, Li Z, Wang G, Tian X, Zhou J, Yu W, Fan Z, Dong L, Lu J, Xu J, Zhang W, Liang A Abstract Rearrangement of the mixed lineage leukemia (MLL; also known as lysine methyltransferase 2A) gene is a recurrent genomic aberration in acute myeloid leukemia (AML). MLLT3, super elongation complex subunit (AF9) is one of the most common MLL fusion partners in AML. The present study aimed to explore the aberrant expression of...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
rlach Sabattini Testoni Iacobucci Huntly Ficarra Martinelli Approximately 18% of acute myeloid leukemia (AML) cases express a fusion transcript. However, few fusions are recurrent across AML and the identification of these rare chimeras is of interest to characterize AML patients. Here, we studied the transcriptome of 8 adult AML patients with poorly described chromosomal translocation(s), with the aim of identifying novel and rare fusion transcripts. We integrated RNA-sequencing data with multiple approaches including computational analysis, Sanger sequencing, fluorescence in situ hybridization and i...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
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