Neoplasia in Cri du Chat Syndrome from Italian and German Databases
Cri du Chat syndrome (CdC) is a chromosomal abnormality (deletion of short arm of chromosome 5) associated with intellectual disability and typical anatomical abnormalities. Research up to now focuses on the management of the disease during childhood. The longer lifespan of these patients warrants d...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2017/5181624 |
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| author | Andrea Guala Marianna Spunton Silvia Kalantari Ingo Kennerknecht Cesare Danesino |
| author_facet | Andrea Guala Marianna Spunton Silvia Kalantari Ingo Kennerknecht Cesare Danesino |
| author_sort | Andrea Guala |
| collection | DOAJ |
| description | Cri du Chat syndrome (CdC) is a chromosomal abnormality (deletion of short arm of chromosome 5) associated with intellectual disability and typical anatomical abnormalities. Research up to now focuses on the management of the disease during childhood. The longer lifespan of these patients warrants deeper investigations of how and if aging could be affected by the syndrome. We decided to focus on the association of the disease with proliferative disorders. Data on proliferative disorders in a cohort of 321 patients from Italian and German Cri du Chat databases were collected. A neoplasia was present in four patients (age 10–50 yrs), and a fifth patient developed a cholesteatoma during childhood. It is of interest that two cases had an early onset of the neoplasia as compared to the expected age of development in the general population. The chromosome region deleted in 5p does not contain genes whose haploinsufficiency is a well-known main cause of the proliferative disorders observed. We nonetheless believe that reporting even sporadic cases of proliferative disorders in CdC patients may increase our knowledge as to the natural history of the disease. In conclusion, available information suggests that surveillance for cancer development in CdC can follow the guidelines for the general population. |
| format | Article |
| id | doaj-art-6a859b87cd054e398eff8a7d0f6ffee9 |
| institution | OA Journals |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-6a859b87cd054e398eff8a7d0f6ffee92025-08-20T02:06:04ZengWileyCase Reports in Genetics2090-65442090-65522017-01-01201710.1155/2017/51816245181624Neoplasia in Cri du Chat Syndrome from Italian and German DatabasesAndrea Guala0Marianna Spunton1Silvia Kalantari2Ingo Kennerknecht3Cesare Danesino4SOC Pediatria, Ambulatorio di Genetica Clinica, Ospedale Castelli, Verbania, ItalySOC Pediatria, Ambulatorio di Genetica Clinica, Ospedale Castelli, Verbania, ItalyDipartimento di Medicina Molecolare, Università di Pavia and IRCCS S. Matteo, Pavia, ItalyInstitute of Human Genetics, Westfälische Wilhelms-Universität Münster, Münster, GermanyDipartimento di Medicina Molecolare, Università di Pavia and IRCCS S. Matteo, Pavia, ItalyCri du Chat syndrome (CdC) is a chromosomal abnormality (deletion of short arm of chromosome 5) associated with intellectual disability and typical anatomical abnormalities. Research up to now focuses on the management of the disease during childhood. The longer lifespan of these patients warrants deeper investigations of how and if aging could be affected by the syndrome. We decided to focus on the association of the disease with proliferative disorders. Data on proliferative disorders in a cohort of 321 patients from Italian and German Cri du Chat databases were collected. A neoplasia was present in four patients (age 10–50 yrs), and a fifth patient developed a cholesteatoma during childhood. It is of interest that two cases had an early onset of the neoplasia as compared to the expected age of development in the general population. The chromosome region deleted in 5p does not contain genes whose haploinsufficiency is a well-known main cause of the proliferative disorders observed. We nonetheless believe that reporting even sporadic cases of proliferative disorders in CdC patients may increase our knowledge as to the natural history of the disease. In conclusion, available information suggests that surveillance for cancer development in CdC can follow the guidelines for the general population.http://dx.doi.org/10.1155/2017/5181624 |
| spellingShingle | Andrea Guala Marianna Spunton Silvia Kalantari Ingo Kennerknecht Cesare Danesino Neoplasia in Cri du Chat Syndrome from Italian and German Databases Case Reports in Genetics |
| title | Neoplasia in Cri du Chat Syndrome from Italian and German Databases |
| title_full | Neoplasia in Cri du Chat Syndrome from Italian and German Databases |
| title_fullStr | Neoplasia in Cri du Chat Syndrome from Italian and German Databases |
| title_full_unstemmed | Neoplasia in Cri du Chat Syndrome from Italian and German Databases |
| title_short | Neoplasia in Cri du Chat Syndrome from Italian and German Databases |
| title_sort | neoplasia in cri du chat syndrome from italian and german databases |
| url | http://dx.doi.org/10.1155/2017/5181624 |
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