Acute leukemia with t(1;3)(p36;q21), evolution to t(1;3)(p36;q21),t(14;17)(q32;q21), and loss of red cell A and Leb antigens

Marsden, Kate; Pearse, Anne Maree; Collins, Graham; Ford, Derek S.; Heard, Sandra; Kimber, Roger

doi:10.1016/0165-4608(92)90328-6

Cited by 10 publications

(4 citation statements)

References 21 publications

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“…This is supported by the reported observation of individuals with decreases in both ABO and adenylate kinase ( AK1 ) expression [52]–[54] in their leukemic cells. AK1 is localized at 9q34.11, not too distant from ABO at 9q34.2.…”

Section: Discussionsupporting

confidence: 70%

DNA Methylation of the ABO Promoter Underlies Loss of ABO Allelic Expression in a Significant Proportion of Leukemic Patients

et al. 2009

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BackgroundLoss of A, B and H antigens from the red blood cells of patients with myeloid malignancies is a frequent occurrence. Previously, we have reported alterations in ABH antigens on the red blood cells of 55% of patients with myeloid malignancies.Methodology/Principal FindingsTo determine the underlying molecular mechanisms of this loss, we assessed ABO allelic expression in 21 patients with ABH antigen loss previously identified by flow cytometric analysis as well as an additional 7 patients detected with ABH antigen changes by serology. When assessing ABO mRNA allelic expression, 6/12 (50%) patients with ABH antigen loss detected by flow cytometry and 5/7 (71%) of the patients with ABH antigen loss detected by serology had a corresponding ABO mRNA allelic loss of expression. We examined the ABO locus for copy number and DNA methylation alterations in 21 patients, 11 with loss of expression of one or both ABO alleles, and 10 patients with no detectable allelic loss of ABO mRNA expression. No loss of heterozygosity (LOH) at the ABO locus was observed in these patients. However in 8/11 (73%) patients with loss of ABO allelic expression, the ABO promoter was methylated compared with 2/10 (20%) of patients with no ABO allelic expression loss (P = 0.03).Conclusions/SignificanceWe have found that loss of ABH antigens in patients with hematological malignancies is associated with a corresponding loss of ABO allelic expression in a significant proportion of patients. Loss of ABO allelic expression was strongly associated with DNA methylation of the ABO promoter.

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Section: Discussionsupporting

confidence: 70%

DNA Methylation of the ABO Promoter Underlies Loss of ABO Allelic Expression in a Significant Proportion of Leukemic Patients

et al. 2009

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“…In the mid‐1980s, Moir et al (1984) first reported the t(1;3)(p36;q21) in three cases of myelodysplastic syndrome (MDS). Until now, 35 hematologic malignancies with t(1;3) have been reported (Moir et al, 1984; Bloomfield et al, 1985; Welborn et al, 1987; Olah et al, 1989; Cuneo et al, 1990; Lawler et al, 1990; Panani et al, 1990; Sato et al, 1991; Marsden et al, 1992; Werner et al, 1992; Grigg et al, 1993; Poirel et al, 1995; Secker‐Walker et al, 1995). The initial diagnoses have been MDS in 18 patients (51%), de novo acute myeloid leukemia (AML) in 8 (23%), therapy‐related MDS in 3 (9%), polycythemia vera in 2 (6%), and chronic myeloid leukemia, essential thrombocythemia, multiple myeloma, and Waldenstrom's macroglobulinemia each in one patient (3%).…”

Section: Introductionmentioning

confidence: 99%

Identification of breakpoint cluster regions at 1p36.3 and 3q21 in hematologic malignancies with t(1;3)(p36;q21)

Shimizu

Suzukawa

Kodera³

et al. 2000

Genes Chromosomes Cancer

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The reciprocal translocation t(1;3)(p36;q21) is associated with myelodysplastic syndromes (MDSs) and acute myeloid leukemia (AML) characterized by trilineage dysplasia, in particular dysmegakaryocytopoiesis, and a poor prognosis. As yet no molecular genetic analyses of the t(1;3) have been reported. In four patients with t(1;3), all of whom had AML‐M4, which evolved from MDS, the breakpoints at 3q21 clustered within a 60‐kb region centromeric to the breakpoint of the inv(3)(q21q26), whereas the breakpoints at 1p36 clustered within a 90‐kb region at 1p36.3. The presence of novel clusters in both the 3q21 and 1p36 breakpoints (BCRs) suggests a common, underlying molecular mechanism for the development of t(1;3)‐positive MDS/AML. The Ribophorin I (RPN1) gene close to the BCR at 3q21 was highly expressed without gross structural changes, whereas the GR6 gene located within the BCR at 3q21 was not expressed. No other highly expressed genes were isolated in a 150‐kb region at 3q21. Thus, it is likely that a gene at 1p36.3 is activated by the translocation of the 3q21 region or a gene important for transformation lies on 3q21, outside the 150‐kb region. Further characterization of the BCRs at 1p36.3 and 3q21 should provide important insights into the molecular genetic mechanisms involved in the genesis of t(1;3)‐positive MDS/AML. Genes Chromosomes Cancer 27:229–238, 2000. © 2000 Wiley‐Liss, Inc.

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“…3,4,[8][9][10][11][12][13] The initiating chromosomal aberrations are specifically associated with MDS and acute myeloid leukemia (AML) subtypes, and probably play significant roles in the early stages of the disease. [14][15][16][17] The secondary chromosomal abnormalities are less specific and probably play roles in disease progression.…”

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confidence: 99%

“…Three of them were MDS/AML-specific (del (5q), n = 2; and trisomy 8, n = 1). Altogether, 60 aberrations were identified after CE (median number of aberrations per patient, 2;range,[1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]. These secondary changes were mostly nonspecific for MDS.…”

mentioning

confidence: 99%

Cryptic aberrations may allow more accurate prognostic classification of patients with myelodysplastic syndromes and clonal evolution

Svobodova

Lhotska

Hodanova

et al. 2020

Genes Chromosomes & Cancer

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The karyotype of bone-marrow cells at the time of diagnosis is one of the most important prognostic factors in patients with myelodysplastic syndromes (MDS). In some cases, the acquisition of additional genetic aberrations (clonal evolution [CE]) associated with clinical progression may occur during the disease. We analyzed a cohort of 469 MDS patients using a combination of molecular cytogenomic methods to identify cryptic aberrations and to assess their potential role in CE. We confirmed CE in 36 (8%) patients. The analysis of bone-marrow samples with a combination of cytogenomic methods at diagnosis and after CE identified 214 chromosomal aberrations. The early genetic changes in the diagnostic samples were frequently MDS specific (17 MDS-specific/57 early changes). Most progression-related aberrations identified after CE were not MDS specific (131 non-MDS-specific/155 progressionrelated changes). Copy number neutral loss of heterozygosity (CN-LOH) was detected in 19% of patients. MDS-specific CN-LOH (4q, 17p) was identified in three patients, and probably pathogenic homozygous mutations were found in TET2 (4q24)and TP53 (17p13.1) genes. We observed a statistically significant difference in overall survival (OS) between the groups of patients divided according to their diagnostic cytogenomic findings, with worse OS in the group with complex karyotypes (P = .021). A combination of cytogenomic methods allowed us to detect many cryptic genomic changes and identify genes and genomic regions that may represent therapeutic targets in patients with progressive MDS.

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Acute leukemia with t(1;3)(p36;q21), evolution to t(1;3)(p36;q21),t(14;17)(q32;q21), and loss of red cell A and Leb antigens

Cited by 10 publications

References 21 publications

DNA Methylation of the ABO Promoter Underlies Loss of ABO Allelic Expression in a Significant Proportion of Leukemic Patients

DNA Methylation of the ABO Promoter Underlies Loss of ABO Allelic Expression in a Significant Proportion of Leukemic Patients

Identification of breakpoint cluster regions at 1p36.3 and 3q21 in hematologic malignancies with t(1;3)(p36;q21)

Cryptic aberrations may allow more accurate prognostic classification of patients with myelodysplastic syndromes and clonal evolution

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