Trisomy 18 as the first chromosome abnormality in a medullary breast cancer

Bullerdiek, Jörn; Bonk, U; Staats, Bettina; Leuschner, Elke; Gohla, Gabriela; Ebel, Thomas; Bartnitzke, Sabine

doi:10.1016/0165-4608(94)90186-4

Cited by 10 publications

(8 citation statements)

References 6 publications

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“…Trisomy 18 has been found mainly in hematopoietic malignancies such as acute and chronic lymphocytic leukemia, lymphomas, and multiple myeloma [Van Dyke, ]. It has also been observed in non‐hematopoietic tumors such as breast cancer in adults [Bullerdiek et al, ], the benign cutaneous tumor pilomatricoma in children [Agoston et al, ], and other tumors. As children with Edwards syndrome have a short life expectancy, it is not possible to evaluate whether constitutional trisomy 18 increases the risk of adult tumors.…”

Section: Discussionmentioning

confidence: 99%

A tumor profile in Edwards syndrome (trisomy 18)

Satgé¹,

Nishi²,

Sirvent³

et al. 2016

American J of Med Genetics Pt C

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Constitutional trisomy 18 causes Edwards syndrome, which is characterized by intellectual disability and a particular set of malformations. Although this condition carries high mortality during prenatal and early postnatal life, some of the rare infants who survive the first months develop benign and malignant tumors. To determine the tumor profile associated with Edwards syndrome, we performed a systematic review of the literature. This review reveals a tumor profile differing from those of Down (trisomy 21) and Patau (trisomy 13) syndromes. The literature covers 45 malignancies: 29 were liver cancers, mainly hepatoblastomas found in Japanese females; 13 were kidney tumors, predominantly nephroblastomas; 1 was neuroblastoma; 1 was a Hodgkin disease; and 1 was acute myeloid leukemia in an infant with both trisomy 18 and type 1 neurofibromatosis. No instances of the most frequent malignancies of early life-cerebral tumors, germ cell tumors, or leukemia--are reported in children with pure trisomy 18. Tumor occurrence does not appear to correlate with body weight, tissue growth, or cancer genes mapping to chromosome 18. Importantly, the most recent clinical histories report successful treatment; this raises ethical concerns about cancer treatment in infants with Edwards syndrome. In conclusion, knowledge of the Edwards' syndrome tumor profile will enable better clinical surveillance in at-risk organs (i.e., liver, kidney). This knowledge also provides clues to understanding oncogenesis, including the probably reduced frequency of some neoplasms in infants and children with this genetic condition. © 2016 Wiley Periodicals, Inc.

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Section: Discussionmentioning

confidence: 99%

A tumor profile in Edwards syndrome (trisomy 18)

Satgé¹,

Nishi²,

Sirvent³

et al. 2016

American J of Med Genetics Pt C

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“…Chromosome 13, 16, 17, and 18 are associated with breast cancer. 53 , 54 , 55 For example, BRCA1 and BRCA2, two major genes mapped to the long arms of chromosomes 17 and 13, determine predisposition to breast cancer. 53 Loss of heterozygosity (LOH) at the long arm of chromosome 16 is a genetic alteration that is frequently observed in differentiated ductal breast cancer.…”

Section: Resultsmentioning

confidence: 99%

Curcumin alters distinct molecular pathways in breast cancer subtypes revealed by integrated miRNA/mRNA expression analysis

2022

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Background Curcumin is well known for its anticancer properties. Its cytotoxic activity has been documented in several cancer cell lines, including breast cancer. The pleiotropic activity of curcumin as an antioxidant, an antiangiogenic, antiproliferative, and pro‐apoptotic, is due to its diverse targets, such as signaling pathways, protein/enzyme, or noncoding gene. Aim This study aimed to identify key miRNAs and mRNAs induced by curcumin in breast cancer cells MCF7, T47D (hormone positive), versus MDA‐MB231 (hormone negative) using comparative analysis of global gene expression profiles. Methods RNA was isolated and subjected to mRNA and miRNA library sequencing to study the global gene expression profile of curcumin‐treated breast cancer cells. The differential expression of gene and miRNA was performed using the DESeq R package. The enriched pathways were studied using cluster profileR, and integrated miRNA–mRNA analysis was carried out using miRtarvis and miRmapper tools. Results Curcumin treatment led to upregulation of 59% TSGs in MCF7, 21% in MDA‐MB‐231 cells, and 36% TSGs in T47D, and downregulation of 57% oncogenes in MCF7, 76% in MDA‐MB‐231, and 91% in T47D. Similarly, curcumin treatment led to upregulation of 32% TSmiRs in MCF7, 37.5% in MDA‐MB231, and 62.5% in T47D, and downregulation of 77% oncomiRs in MCF7, 50% in MDA‐MB231 and 28.6% in T47D. Integrated analysis of miRNA–mRNA led to the identification of a common NFKB pathway altered by curcumin in all three cell lines. Analysis of uniquely enriched pathway revealed non‐integrin membrane–ECM interactions and laminin interactions in MCF7; extracellular matrix organization and degradation in MDA‐MB‐231 and cell cycle arrest and G2/M transition in T47D. Conclusion Curcumin regulates miRNA and mRNA in a cell type‐specific manner. The integrative analysis led to the detection of miRNAs and mRNAs pairs, which can be used as biomarkers associated with carcinogenesis, diagnostic, and treatment response in breast cancer.

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“…Polyploid chromosome numbers are common in histologically aggressive infiltrating ductal carcinomas, in tumours with a high mitotic activity and of histological grade III (Pandis et al, 1996). Whereas 141 (38%) and 67 (18%) of 371 unselected cytogenetically abnormal breast carcinomas (Dutrillaux et al, 1990;Geleick et al, 1990;Hainsworth et al, 1991;Pandis et al, 1992aPandis et al, , 1993aPandis et al, , b, 1995Lu et al, 1993;Rohen et al, 1993Rohen et al, ,1995Thompson et al, 1993;Bullerdiek et al, 1994;Steinarsdóttir et al, 1995;Cavalli et al, 1997;Teixeira et al, 1997;unpublished data) showed complex karyotypes (here defined as a chromosome number above the hyperdiploid range (Ͼ57) or more than 3 structural and/or numerical chromosomal changes. Clones with numerical changes only, when derived from a composite karyotype, were not regarded as complex) and neartriploid clones, respectively, the corresponding figures for mucinous and tubular carcinomas are much lower (Table II).…”

Section: Discussionmentioning

confidence: 96%

“…The 32 previously published tumours were part of 15 series of cytogenetically analysed breast carcinomas (Dutrillaux et al, 1990;Geleick et al, 1990;Hainsworth et al, 1991;Pandis et al, 1992aPandis et al, , 1993aPandis et al, , b, 1995Lu et al, 1993;Rohen et al, 1993Rohen et al, , 1995Thompson et al, 1993;Bullerdiek et al, 1994;Steinarsdóttir et al, 1995;Cavalli et al, 1997;Teixeira et al, 1997). Tumours reported as mixed forms were not included among these 32 cases as the relatively favourable prognosis associated with certain histological types of breast carcinomas only applies to tumours composed entirely or in large part of the designated pattern (Rosen, 1996).…”

Section: Discussionmentioning

confidence: 97%