Acute myeloid leukemia in childhood is a heterogeneous group of diseases, and different epidemiologic factors are involved in the etiopathogenesis. Genetic syndromes are one of the predisposing factors of acute myeloid leukemia (AML), including Down syndrome, Bloom syndrome, and neurofibromatosis. Acute megakaryoblastic leukemia (AMKL) is the main subtype in Down syndrome infants, and acquired chromosomal anomalies are closely related to the physiopathology of the illness. The main chromosomal anomalies in AMKL are structural, such as t(1;22); however, complex karyotypes are also common. Here we describe the case of an infant with neurofibromatosis developing AMKL with a complex karyotype including 5q and 17q deletions, TP53 deletion, and an unusual unbalanced chromosomal translocation t(11;19)(q13;p13), leading to three copies of the MLL gene.
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http://dx.doi.org/10.1016/j.cancergencyto.2010.03.003 | DOI Listing |
Int J Gynaecol Obstet
January 2025
International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Objective: This study aimed to explore genetic etiologies of conotruncal defects (CTDs) in fetuses by analyzing the results of different genetic tests and to assess pregnancy outcomes of fetuses with CTD in a Chinese prenatal cohort.
Methods: A total of 146 fetuses that underwent invasive prenatal genetic testing for CTD at the prenatal diagnosis center of the International Peace Maternity and Child Health Hospital between January 2018 and December 2022 were retrospectively analyzed. All of them underwent chromosomal microarray analysis (CMA) and karyotype analysis, but only 27 underwent whole-exome sequencing (WES).
Am J Hematol
January 2025
Institute of Health Information and Statistics of the Czech Republic, Praha, Czech Republic.
The influence of t(v;22) sole, major route ACAs all (+8, n = 14; +Ph, n = 10; +19, n = 1), and -Y sole on progression-free survival. Survival curves are compared with those of patients with the standard t(9;22) translocation. Other ACAs or complex karyotypes did not influence survival.
View Article and Find Full Text PDFAm J Hematol
January 2025
CRIMM, Center Research and Innovation of Myeloproliferative Neoplasms, University of Florence, AOU Careggi, Florence, Italy.
The clinical relevance of TP53 mutations (TP53) in myeloproliferative neoplasms (MPN) and their prognostic interaction with MPN subtype designation has not been systematically studied. In the current study, 114 patients with MPN harboring TP53 (VAF ≥ 2%) were evaluated for overall survival (OS), calculated from the time of TP53 detection: chronic phase myelofibrosis (MF-CP; N = 61); blast-phase (MPN-BP; N = 31) or accelerated-phase (MPN-AP; N = 16) MPN, and polycythemia vera/essential thrombocythemia (PV/ET; N = 6). Sixty-five (57%) patients harbored International Consensus Classification (ICC)-defined multihit TP53 and 56 (49%) monosomal/complex karyotype (MK/CK).
View Article and Find Full Text PDFJ Dent Sci
January 2025
Research Institute, Ballys Co. Ltd, Incheon, Republic of Korea.
Background/purpose: Pulp polyp is often eliminated as dental waste. Pulp polyp cells were reported to have high proliferation activity which might be comprised of stem cells. However, little has been known on the presence of stem cells in the pulp polyp.
View Article and Find Full Text PDFAm J Hematol
January 2025
Department of Hematopathology, The University of Texas, MD Anderson Cancer Center, Houston, Texas, USA.
Chromoanagenesis (CAG) encompasses a spectrum of catastrophic genomic events, including chromothripsis, chromoanasynthesis, and chromoplexy. We studied CAG in 410 patients with a diagnosis of acute myeloid leukemia (AML), 292 newly diagnosed (ND), and 118 refractory/relapsed, using optical genome mapping. CAG was identified by the presence of clusters (with 10 or more breakpoints) of structural abnormalities and/or segmental copy number alterations within one or more chromosomal regions.
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