Myelodysplastic syndrome associated with monosomy 7 in childhood: a retrospective study

Aktaş, Dilek; Tunçbılek, Ergül

doi:10.1016/j.cancergencyto.2006.06.010

Cited by 24 publications

(18 citation statements)

References 20 publications

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“…Monosomy 7 or partial loss of 7q is found in 30% of children with myeloid disorders and is characterized by ineffective hematopoiesis, dysplastic bone marrow, and risk of evolution into acute leukemia [1]. Children with inherited bone marrow failure syndromes (IBMFS) are predisposed to myelodysplastic syndrome (MDS).…”

Section: Introductionmentioning

confidence: 99%

Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association

McDonald

Wilson

Pumbo

et al. 2009

Pediatric Blood & Cancer

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We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, skin hyperpigmentation, and chronic lung disease. Some of his clinical manifestations were suggestive of dyskeratosis congenita (DC), while other features resembled IMAGe association. DC has been linked to mutations in telomere maintenance genes. The genetic basis of IMAGe association is unknown, although mice harboring a mutation in a telomere maintenance gene, Tpp1, have adrenal hypoplasia congenita. We considered the possibility that this patient has a defect in telomere function resulting in features of both DC and IMAGe association.

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Section: Introductionmentioning

confidence: 99%

Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association

McDonald

Wilson

Pumbo

et al. 2009

Pediatric Blood & Cancer

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“…Preferential losses involving 7q were observed in germ cell, myeloid and myeloproliferative tumors (Figure 3) whereas neuroepithelial brain tumors (among other entities) preferentially displayed gains on 7q. Losses involving 7q are common in myeloid and myeloproliferative tumors [17]–[20] and are associated with advanced age and resistance to therapies [21], [22]. However, here we show that 7q losses are quite specific to myeloid tumors and promote their selective divergence from other cancer types.…”

Section: Resultsmentioning

confidence: 48%

Specific Genomic Regions Are Differentially Affected by Copy Number Alterations across Distinct Cancer Types, in Aggregated Cytogenetic Data

et al. 2012

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BackgroundRegional genomic copy number alterations (CNA) are observed in the vast majority of cancers. Besides specifically targeting well-known, canonical oncogenes, CNAs may also play more subtle roles in terms of modulating genetic potential and broad gene expression patterns of developing tumors. Any significant differences in the overall CNA patterns between different cancer types may thus point towards specific biological mechanisms acting in those cancers. In addition, differences among CNA profiles may prove valuable for cancer classifications beyond existing annotation systems.Principal FindingsWe have analyzed molecular-cytogenetic data from 25579 tumors samples, which were classified into 160 cancer types according to the International Classification of Disease (ICD) coding system. When correcting for differences in the overall CNA frequencies between cancer types, related cancers were often found to cluster together according to similarities in their CNA profiles. Based on a randomization approach, distance measures from the cluster dendrograms were used to identify those specific genomic regions that contributed significantly to this signal. This approach identified 43 non-neutral genomic regions whose propensity for the occurrence of copy number alterations varied with the type of cancer at hand. Only a subset of these identified loci overlapped with previously implied, highly recurrent (hot-spot) cytogenetic imbalance regions.ConclusionsThus, for many genomic regions, a simple null-hypothesis of independence between cancer type and relative copy number alteration frequency can be rejected. Since a subset of these regions display relatively low overall CNA frequencies, they may point towards second-tier genomic targets that are adaptively relevant but not necessarily essential for cancer development.

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“…A change in a copy number of chromosome 7 is commonly observed in solid tumors such as bladder 21,22 and prostate cancer, 23 and hematologic disorders such as myelodysplastic syndrome and acute leukemia. [24][25][26] Chromosome 7 centromeric probe is used to confirm the epidermal growth factor receptor amplification. In renal cell tumors, trisomy or tetrasomy 7 have been reported to be the most common karyotypic changes in pRCC.…”

Section: Discussionmentioning

confidence: 99%

Chromogenic in situ hybridization detection of chromosome 7 and 17 abnormalities in renal cell carcinomas and comparison to flow cytometric DNA ploidy patterns

Choi

Shin

et al. 2008

Basic and Applied Pathology

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Background and aim: The chromogenic in situ hybridization (CISH) is a new method in which chromosome aberration is determined by using a chromogenic reaction. We report the aberrations of chromosome 7 and 17 in three major subtypes of renal cell carcinomas (RCC), and compared these chromosomal changes with the flow cytometric DNA ploidy patterns. Methods: Aberrations of chromosomes 7 and 17 in 21 clear cell (c), 6 papillary (p) and 15 chromophobe (ch) RCCs were studied and compared with flow cytometric DNA ploidy. Results: Two of 14 chRCCs (14.3%) were monosomic for chromosome 7, but none of the cRCCs or pRCCs were monosomic. Twelve (85.7%) chRCCs showed monosomy for chromosome 17, but none of the pRCCs were monosomic. Three pRCCs (50%), 5 of 14 (35.7%) chRCCs and 2 (9.5%) cRCCs were polysomic for chromosome 7, whereas only one pRCC was polysomic. DNA aneuploidy was found in 2 pRCCs (33.3%), 2 cRCCs (9.5%), and 6 chRCCs (46.2%). Hypodiploidy was seen in one chRCC, and triploidy was seen in all types of RCCs. DNA aneuploidy was more frequent in cases with both chromosome 7 and 17 abnormalities (80%) than in cases with abnormality of one (38.5%) or neither (4.5%). Conclusion: The CISH method is useful in detecting chromosomal change in RCC, and the identification of chromosome 17 monosomy is helpful in diagnosis of chRCC.

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Myelodysplastic syndrome associated with monosomy 7 in childhood: a retrospective study

Cited by 24 publications

References 20 publications

Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association

Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association

Specific Genomic Regions Are Differentially Affected by Copy Number Alterations across Distinct Cancer Types, in Aggregated Cytogenetic Data

Chromogenic in situ hybridization detection of chromosome 7 and 17 abnormalities in renal cell carcinomas and comparison to flow cytometric DNA ploidy patterns

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