Myelodysplastic syndrome in a child with constitutional trisomy 8 mosaicism and normal phenotype

Hasle, Henrik; Clausen, Niels; Pedersen, Bent; Bendix-Hansen, Knud

doi:10.1016/0165-4608(94)00099-w

Cited by 47 publications

(32 citation statements)

References 19 publications

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“…One child with normal phenotype (Table 1, case 7) was diagnosed at the age of 11 years as having constitutional trisomy 8 mosaicism due to development of myelodysplastic syndrome with trisomy 8 in all analysed bone marrow cells. 27 One patient with apparent non-mosaic trisomy 8 in both blood and skin (Table 1, case 4) showed a clinical picture similar to mosaics. 32 The symptoms of the patient with the extra band on 1p were all attributable to the trisomy 8 syndrome.…”

Section: Ascertainment Of Casesmentioning

confidence: 99%

“…22,23 Trisomy 8 represents a common clonal chromosome aberration in myelodysplastic syndromes and acute myeloid leukemias, and individuals with constitutional trisomy 8 mosaicism have an apparent increased risk of myeloid malignancies, 24,25 which occasionally lead to diagnosis of congenital trisomy 8. 26,27 In order to increase our understanding of the mechanisms underlying chromosomal nondisjunction we have performed a molecular study on 26 cases with trisomy 8 or trisomy 8 mosaicism, for which only a few cases have been studied so far. 14,25,[28][29][30] …”

Section: Introductionmentioning

confidence: 99%

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Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

et al. 1998

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Causes of chromosomal nondisjunction is one of the remaining unanswered questions in human genetics. In order to increase our understanding of the mechanisms underlying nondisjunction we have performed a molecular study on trisomy 8 and trisomy 8 mosaicism. We report the results on analyses of 26 probands (and parents) using 19 microsatellite DNA markers mapping along the length of chromosome 8. The 26 cases represented 20 live births, four spontaneous abortions, and two prenatal diagnoses (CVS). The results of the nondisjunction studies show that 20 cases (13 maternal, 7 paternal) were probably due to mitotic (postzygotic) duplication as reduction to homozygosity of all informative markers was observed and as no third allele was ever detected. Only two cases from spontaneous abortions were due to maternal meiotic nondisjunction. In four cases we were not able to detect the extra chromosome due to a low level of mosaicism. These results are in contrast to the common autosomal trisomies (including mosaics), where the majority of cases are due to errors in maternal meiosis.

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Section: Ascertainment Of Casesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

et al. 1998

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“…To the best of our knowledge, none of our patients were characterized by constitutional mosaicism for ϩ8, a rare but reported finding. [10][11][12] This analysis pertains only to pretreatment specimens. Our data set includes patients who are listed as having clonal ϩ8, patients with cytogenetic aberrations other than ϩ8, and patients with normal cytogenetics.…”

Section: Cytogenetic Analysis Review and Definitionsmentioning

confidence: 99%

Impact of trisomy 8 (+8) on clinical presentation, treatment response, and survival in acute myeloid leukemia: a Southwest Oncology Group study

Wolman

Gundacker

Appelbaum

et al. 2002

Blood

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The prognostic impact of trisomy 8, alone or with other clonal aberrations, was evaluated in 849 patients with previously untreated acute myeloid leukemia (AML) who were registered to 5 Southwest Oncology Group trials. At presentation, 108 (12.7%) patients had ؉8 in their karyotypes, including 43 (5.1%) patients with ؉8 as the sole aberration; 307 (36.2%) were normal, and 434 (51.1%) had other cytogenetic abnormalities. Patients with ؉8 were slightly older (P ‫؍‬ .033), had lower WBC (P ‫؍‬ .011), and had lower percentages of peripheral blasts (P ‫؍‬ .0004) than the patients without ؉8. Median survival time for all patients with ؉8 was 9.9 months (95% CI, 6.5-12.5), similar to that of "unfavorable" cytogenetics risk groups (8.3 months; 95% CI, 6.8-9.5.) Patients with ؉8 had significantly lower peripheral blasts (P ‫؍‬ .0002), WBC (P < .0001) counts, and decreased overall survival (OS) than patients with normal cytogenetics (9.9 months vs 15.4 months; P ‫؍‬ .006).However, survival of patients with ؉8 as the sole aberration did not differ significantly from those with normal cytogenetics (P ‫؍‬ .36). Thus, the trisomy 8 group as a whole had poor survival, which was largely attributable to worsened outcomes among patients whose trisomy 8 was associated with other unfavorable cytogenetic abnormalities. (Blood. 2002; 100:29-35)

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“…To the best of our knowledge, a total of 15 cases of CT8M with hematological malignancies have been reported to date [Gafter et al, 1976;Riccardi et al, 1978;Cornaglia-Ferraris et al, 1981;Palmer et al, 1983;Kapaun et al, 1993;Hasle et al, 1995;Mastrangelo et al, 1995;Seghezzi et al, 1996;Maserati et al, 2002Maserati et al, , 2007Narendran et al, 2004;Ando et al, 2005] ( table 1 ). Additionally, a case of chronic myelomonocytic leukemia with partial T8M has also been described [Brady et al, 2000].…”

Section: Discussionmentioning

confidence: 99%

Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis

Altıner

Kutlay²,

İlhan³

2016

Cytogenet Genome Res

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Constitutional trisomy 8 mosaicism (CT8M) is a rare chromosomal abnormality. The phenotype varies from normal features to severe malformations. CT8M increases the risk of developing leukemia and myelodysplastic syndrome. As CT8M is very rare, its diagnosis can easily be overlooked, especially in cases with mild phenotypes. Here, we report the diagnostic process of a 40-year-old female patient with CT8M and discuss the importance of follow-up in monitoring for hematological malignancies.

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Myelodysplastic syndrome in a child with constitutional trisomy 8 mosaicism and normal phenotype

Cited by 47 publications

References 19 publications

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

Impact of trisomy 8 (+8) on clinical presentation, treatment response, and survival in acute myeloid leukemia: a Southwest Oncology Group study

Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis

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