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Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation
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- Maya-Gonzalez, C. (författare)
- Karolinska Institutet,Karolinska Inst, Sweden
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- Wessman, S. (författare)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Lagerstedt-Robinson, K. (författare)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Taylan, F. (författare)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Tesi, B. (författare)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden; Karolinska Inst, Sweden
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- Kuchinskaya, Ekaterina (författare)
- Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik,Karolinska Univ Hosp, Sweden
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- McCluggage, W. G. (författare)
- Belfast Hlth & Social Care Trust, Dept Pathol, Belfast, North Ireland.
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- Poluha, Anna (författare)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Uppsala Univ Hosp, Clin Genet, Uppsala, Sweden.
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- Holm, S. (författare)
- Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden.
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- Nergardh, R. (författare)
- Karolinska Institutet,Karolinska Inst, Sweden
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- De Stahl, T. D. (författare)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Hoybye, C. (författare)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Tettamanti, G. (författare)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Inst, Sweden
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- Delgado-Vega, A. M. (författare)
- Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden.
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- Nordenvall, A. S. (författare)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Nordgren, Ann, 1964 (författare)
- Karolinska Institutet,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden.;Univ Gothenburg, Inst Biomed, Dept Lab Med, Gothenburg, Sweden.;Sahlgrens Univ Hosp, Dept Clin Genet & Genom, Gothenburg, Sweden.
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(creator_code:org_t)
- Frontiers Media S.A. 2023
- 2023
- Engelska.
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Ingår i: Frontiers in medicine. - : Frontiers Media S.A.. - 2296-858X. ; 10
- Relaterad länk:
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https://doi.org/10.3...
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Abstract
Ämnesord
Stäng
- Prader-Willi syndrome (PWS) is a rare disease caused by a lack of expression of inherited imprinted genes in the paternally derived Prader-Willi critical region on chromosome 15q11.2-q13. It is characterized by poor feeding and hypotonia in infancy, intellectual disability, behavioral abnormalities, dysmorphic features, short stature, obesity, and hypogonadism. PWS is not a known cancer predisposition syndrome, but previous investigations regarding the prevalence of cancer in these patients suggest an increased risk of developing specific cancer types such as myeloid leukemia and testicular cancer. We present the results from a Swedish national population-based cohort study of 360 individuals with PWS and 18,000 matched comparisons. The overall frequency of cancer was not increased in our PWS cohort, but we found a high frequency of pediatric cancers. We also performed whole-genome sequencing of blood- and tumor-derived DNAs from a unilateral dysgerminoma in a 13-year-old girl with PWS who also developed bilateral ovarian sex cord tumors with annular tubules. In germline analysis, there were no additional findings apart from the 15q11.2-q13 deletion of the paternal allele, while a pathogenic activating KIT mutation was identified in the tumor. Additionally, methylation-specific multiplex ligation-dependent probe amplification revealed reduced methylation at the PWS locus in the dysgerminoma but not in the blood. In conclusion, our register-based study suggests an increased risk of cancer at a young age, especially testicular and ovarian tumors. We found no evidence of a general increase in cancer risk in patients with PWS. However, given our limited observational time, further studies with longer follow-up times are needed to clarify the lifetime cancer risk in PWS. We have also described the second case of locus-specific loss-of-imprinting in a germ cell tumor in PWS, suggesting a possible mechanism of carcinogenesis.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Prader-Willi syndrome
- ovarian tumor
- germ-cell tumor
- cancer
- predisposition
- loss-of-imprinting
- imprinting relaxation
- Prader-Willi syndrome
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Maya-Gonzalez, C ...
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Wessman, S.
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Lagerstedt-Robin ...
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Taylan, F.
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Tesi, B.
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Kuchinskaya, Eka ...
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McCluggage, W. G ...
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Poluha, Anna
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Holm, S.
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Nergardh, R.
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De Stahl, T. D.
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Hoybye, C.
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Tettamanti, G.
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Delgado-Vega, A. ...
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Nordenvall, A. S ...
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Nordgren, Ann, 1 ...
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