Trisomy 13: A preferentially male chromosome aberration interfering specifically with myeloid proliferation and differentiation?

Pedersen, Bent; Jensen, Inger Marie

doi:10.1016/0165-4608(91)90192-w

Cited by 9 publications

(5 citation statements)

References 17 publications

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“…Monosomy 7 thus seems to be another example of chromosome aber rations with clear divergence from the usual 1:1 sex ratio. A similar male predominance (76%) was seen among tri somy 13 cases [17], In MDS cases with 5q-as the only …”

Section: Patientssupporting

confidence: 53%

The Monosomy 7 Clone in Interphase and Metaphase Cell Populations: A Combined Chromosome and Primed in situ Labeling Study

Pedersen¹,

Koch²,

Hansen³

et al. 1997

Acta Haematol

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Loss of a chromosome 7 is associated with a poor prognosis in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). Some studies have shown higher frequencies of monosomy 7 (-7) in dividing than nondividing myeloid cells, which might indicate that -7 confers a proliferative advantage on the host cell. As other groups have not been able to confirm this, we compared the -7 frequencies in bone marrow metaphases as studied with conventional cytogenetics and in interphase cells using primed in situ (PRINS) labeling. We found significantly higher -7 frequencies in metaphase than in interphase cells irrespective of diagnosis and presence or absence of additional chromosome aberrations. Further, we found a significant correlation between the -7 percentages in resting and dividing cells. Finally, as our material showed a clear male preponderance, Mitelman’s Catalog of Chromosome Aberrations in Cancer was searched for -7. Of 815 cases with AML or MDS, 491 (60.3%) were found to be men. To our knowledge, this is the first observation of a clear deviation from the 1:1 sex ratio in -7 patients.

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Section: Patientssupporting

confidence: 53%

The Monosomy 7 Clone in Interphase and Metaphase Cell Populations: A Combined Chromosome and Primed in situ Labeling Study

Pedersen¹,

Koch²,

Hansen³

et al. 1997

Acta Haematol

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“…Like trisomy 8, trisomy 13 as the only chromosome aberration shows a marked male preponderance [2]. But here also the phenomenon remains unexplained.…”

Section: Distribution On Gendermentioning

confidence: 95%

“…This is shorter than that of the 5q− syndrome (61 months) [6], equals that of trisomy 4 (17 months) [54], and exceeds those of trisomy 13 and monosomy 7 (6 months) [2,4] as well as those of 7q− and t(1;7) (11 months) [3,5].…”

Section: Factors Of Prognostic Importancementioning

confidence: 98%

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MDS and AML with trisomy 8 as the sole chromosome aberration show different sex ratios and prognostic profiles: A study of 115 published cases

Pedersen

1997

Am. J. Hematol.

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A number of chromosome aberrations occur nonrandomly as the sole aberration in malignant and premalignant hematological disorders. They imply very different prognoses. For most of them the survival consequences have been established. For trisomy 8, which is the most frequent numerical aberration in myeloid disorders, the prognostic implications have not been investigated. In order to clarify survival in patients with trisomy 8 as the sole aberration, the literature was searched for such cases. In 115 patients survival data were available. In 103 (89.6%), a myeloid disorder had been diagnosed. Acute myeloid leukemia (AML) or a myelodysplastic syndrome (MDS) occurred in 100 cases (87.0%). The median survival was found to be 17.1 months. On multivariate survival analysis (Cox), age above 60 and a leukemic diagnosis were found to be independent adverse prognostic indicators. MDS patients survived significantly longer (median 21 months) than AML patients (median 15 months). In MDS age and in AML the trisomy 8 clonal size was an independent prognostic factor. An unexpected observation was a clear male preponderance in trisomy 8 MDS (about two-thirds of cases). In trisomy 8 AML an approximate 1:1 ratio was found. Browsing of Mitelman's catalog confirmed these ratios.

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“…This is shorter than that of the Fig. 1 Bone marrow Karyotype of the patient 5q-syndrome (61 months) [4], equals that of trisomy 4 (17 months) [5], and exceeds those of trisomy 13 and monosomy 7 (6 months) [6,7], as well as those of 7q-and t(1;7) (11 months) [8,9].…”

Section: Discussionmentioning

confidence: 99%

Ring chromosome 8 and trisomy 8 in a patient with acute myeloid leukemia

Kar

Nandhini

Raj

2009

Indian J Hematol Blood Transfus

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We describe a child with Acute Myeloid Leukemia (AML M7) with trisomy 8 and ring chromosome 8. Ring chromosome 8 associated with AML is uncommon and is reported to have a poor outcome. The combination of trisomy 8 and ring chromosome 8 has not been previously reported. This 15-month-old girl had presented with a history of fever, weight loss of 1 kg, gum bleeds and pallor. Clinical examinations revealed no nodes or organomegaly. Investigations revealed pancytopenia and elevated serum LDH. Bone marrow aspirate confi rmed the presence of myeloid blasts positive only for CD 41 and CD 61 on fl ow cytometry. Chromosomal analysis from the bone marrow showed 46, XX [13]/ 47, XX, +8[2]/ 47, XX, +r (8) [5]. The child was treated as per UK MRC AML protocol (ADE 10+3+5). Bone marrow on day 21 post-induction was in morphological remission. Repeat karyotyping revealed 46,XX suggesting that the patient was in cytogenetic remission. Cytogenetic sub grouping in AML patients provides guidelines for the choice of optimal treatment strategy. There was no HLA matched family donor and hence an unrelated donor search was commenced as she was in the group with unfavourable cytogenetics. She developed acute myelofi brosis soon after the second cycle of chemotherapy with swinging fever and rapidly enlarging spleen. The marrow showed 11% blasts with intense fi brosis. She went through a stormy period during conditioning for unrelated stem cell transplantation. She passed away on day 11 post transplantation of veno-occlusive disease of liver and multiorgan failure. This case illustrates the poor outcome in paediatric AML with trisomy and ring chromosome 8.

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Trisomy 13: A preferentially male chromosome aberration interfering specifically with myeloid proliferation and differentiation?

Cited by 9 publications

References 17 publications

The Monosomy 7 Clone in Interphase and Metaphase Cell Populations: A Combined Chromosome and Primed in situ Labeling Study

The Monosomy 7 Clone in Interphase and Metaphase Cell Populations: A Combined Chromosome and Primed in situ Labeling Study

MDS and AML with trisomy 8 as the sole chromosome aberration show different sex ratios and prognostic profiles: A study of 115 published cases

Ring chromosome 8 and trisomy 8 in a patient with acute myeloid leukemia

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