Cowden syndrome epidemiology and demographics: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Cowden syndrome}} | |||
{{CMG}}; {{AE}} {{VKG}} | {{CMG}}; {{AE}} {{VKG}} | ||
==Overview== | ==Overview== | ||
The [[incidence]] of rare disease [[cowden syndrome]] is approximately 1 in 250,000 individuals. The [[prevalence]] of [[cowden syndrome]] is unknown. The [[incidence]] of [[cowden syndrome]] increases with [[age]]. [[Cowden syndrome]] affects men and women equally. | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
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*The [[prevalence]] of [[cowden syndrome]] is unknown.<ref name="Bennett2010">{{cite journal|last1=Bennett|first1=Kristi L.|title=Germline Epigenetic Regulation of <emph type="ital">KILLIN</emph> in Cowden and Cowden-like Syndrome|journal=JAMA|volume=304|issue=24|year=2010|pages=2724|issn=0098-7484|doi=10.1001/jama.2010.1877}}</ref> | *The [[prevalence]] of [[cowden syndrome]] is unknown.<ref name="Bennett2010">{{cite journal|last1=Bennett|first1=Kristi L.|title=Germline Epigenetic Regulation of <emph type="ital">KILLIN</emph> in Cowden and Cowden-like Syndrome|journal=JAMA|volume=304|issue=24|year=2010|pages=2724|issn=0098-7484|doi=10.1001/jama.2010.1877}}</ref> | ||
*The [[prevalence]] of [[breast cancer]] in [[cowden syndrome]] increases by 3 fold.<ref name="VargaPastore2009">{{cite journal|last1=Varga|first1=Elizabeth A|last2=Pastore|first2=Matthew|last3=Prior|first3=Thomas|last4=Herman|first4=Gail E|last5=McBride|first5=Kim L|title=The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly|journal=Genetics in Medicine|volume=11|issue=2|year=2009|pages=111–117|issn=1098-3600|doi=10.1097/GIM.0b013e31818fd762}}</ref> | *The [[prevalence]] of [[breast cancer]] in [[cowden syndrome]] increases by 3 fold.<ref name="VargaPastore2009">{{cite journal|last1=Varga|first1=Elizabeth A|last2=Pastore|first2=Matthew|last3=Prior|first3=Thomas|last4=Herman|first4=Gail E|last5=McBride|first5=Kim L|title=The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly|journal=Genetics in Medicine|volume=11|issue=2|year=2009|pages=111–117|issn=1098-3600|doi=10.1097/GIM.0b013e31818fd762}}</ref> | ||
*The [[prevalence]] of [[Renal cell carcinoma|renal cell carcinomas]] in [[cowden syndrome]] increases by 2 fold. | *The [[prevalence]] of [[Renal cell carcinoma|renal cell carcinomas]] in [[cowden syndrome]] increases by 2 fold.<ref name="pmid189721962">{{cite journal |vauthors=Pilarski R |title=Cowden syndrome: a critical review of the clinical literature |journal=J Genet Couns |volume=18 |issue=1 |pages=13–27 |date=February 2009 |pmid=18972196 |doi=10.1007/s10897-008-9187-7 |url=}}</ref> | ||
*The [[prevalence]] of non-medullary follicular [[thyroid cancer]] in [[cowden syndrome]] increases by 70 fold.<ref name="pmid21956414">{{cite journal |vauthors=Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C |title=Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=12 |pages=E2063–71 |date=December 2011 |pmid=21956414 |pmc=3232626 |doi=10.1210/jc.2011-1616 |url=}}</ref><ref name="pmid219564142">{{cite journal |vauthors=Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C |title=Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=12 |pages=E2063–71 |date=December 2011 |pmid=21956414 |pmc=3232626 |doi=10.1210/jc.2011-1616 |url=}}</ref> | |||
===Age=== | ===Age=== | ||
*The [[incidence]] of [[cowden syndrome]] increases with [[age]] | *The [[incidence]] of [[cowden syndrome]] increases with [[age]].<ref name="pmid23158187">{{cite journal |vauthors=Milas M, Mester J, Metzger R, Shin J, Mitchell J, Berber E, Siperstein AE, Eng C |title=Should patients with Cowden syndrome undergo prophylactic thyroidectomy? |journal=Surgery |volume=152 |issue=6 |pages=1201–10 |date=December 2012 |pmid=23158187 |doi=10.1016/j.surg.2012.08.055 |url=}}</ref> | ||
*Based on Surveillance Epidemiology and End Results (SEER) data the [[median]] [[age]] at [[diagnosis]] is before 35 years.<ref name="pmid18972196">{{cite journal |vauthors=Pilarski R |title=Cowden syndrome: a critical review of the clinical literature |journal=J Genet Couns |volume=18 |issue=1 |pages=13–27 |date=February 2009 |pmid=18972196 |doi=10.1007/s10897-008-9187-7 |url=}}</ref> | |||
===Race=== | ===Race=== | ||
Latest revision as of 21:16, 22 February 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
The incidence of rare disease cowden syndrome is approximately 1 in 250,000 individuals. The prevalence of cowden syndrome is unknown. The incidence of cowden syndrome increases with age. Cowden syndrome affects men and women equally.
Epidemiology and Demographics
Incidence
- The incidence of cowden syndrome is approximately 1 per 200,000 to 250,000 individuals worldwide.[1][2]
- Before the PTEN gene mutation identification the incidence of cowden syndrome is approximately 1 per 1,000,000 individuals worldwide.[3]
Prevalence
- The prevalence of cowden syndrome is unknown.[4]
- The prevalence of breast cancer in cowden syndrome increases by 3 fold.[5]
- The prevalence of renal cell carcinomas in cowden syndrome increases by 2 fold.[6]
- The prevalence of non-medullary follicular thyroid cancer in cowden syndrome increases by 70 fold.[7][8]
Age
- The incidence of cowden syndrome increases with age.[9]
- Based on Surveillance Epidemiology and End Results (SEER) data the median age at diagnosis is before 35 years.[10]
Race
- There is racial predilection to cowden syndrome.
- Cowden syndrome usually affects individuals of the caucasians race more than other races.[11]
Gender
- Cowden syndrome affects men and women equally.[12][13]
- Females are little more commonly affected by cowden syndrome than males.
References
- ↑ Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns JP, Hamel B, Hoefsloot LH, Peeters EA, Padberg GW (April 1999). "Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations". Eur. J. Hum. Genet. 7 (3): 267–73. doi:10.1038/sj.ejhg.5200289. PMID 10234502.
- ↑ Eng, C. (2000). "Will the real Cowden syndrome please stand up: revised diagnostic criteria". Journal of Medical Genetics. 37 (11): 828–830. doi:10.1136/jmg.37.11.828. ISSN 1468-6244.
- ↑ Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C (May 1996). "Localization of the gene for Cowden disease to chromosome 10q22-23". Nat. Genet. 13 (1): 114–6. doi:10.1038/ng0596-114. PMID 8673088.
- ↑ Bennett, Kristi L. (2010). "Germline Epigenetic Regulation of <emph type="ital">KILLIN</emph> in Cowden and Cowden-like Syndrome". JAMA. 304 (24): 2724. doi:10.1001/jama.2010.1877. ISSN 0098-7484.
- ↑ Varga, Elizabeth A; Pastore, Matthew; Prior, Thomas; Herman, Gail E; McBride, Kim L (2009). "The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly". Genetics in Medicine. 11 (2): 111–117. doi:10.1097/GIM.0b013e31818fd762. ISSN 1098-3600.
- ↑ Pilarski R (February 2009). "Cowden syndrome: a critical review of the clinical literature". J Genet Couns. 18 (1): 13–27. doi:10.1007/s10897-008-9187-7. PMID 18972196.
- ↑ Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C (December 2011). "Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations". J. Clin. Endocrinol. Metab. 96 (12): E2063–71. doi:10.1210/jc.2011-1616. PMC 3232626. PMID 21956414.
- ↑ Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C (December 2011). "Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations". J. Clin. Endocrinol. Metab. 96 (12): E2063–71. doi:10.1210/jc.2011-1616. PMC 3232626. PMID 21956414.
- ↑ Milas M, Mester J, Metzger R, Shin J, Mitchell J, Berber E, Siperstein AE, Eng C (December 2012). "Should patients with Cowden syndrome undergo prophylactic thyroidectomy?". Surgery. 152 (6): 1201–10. doi:10.1016/j.surg.2012.08.055. PMID 23158187.
- ↑ Pilarski R (February 2009). "Cowden syndrome: a critical review of the clinical literature". J Genet Couns. 18 (1): 13–27. doi:10.1007/s10897-008-9187-7. PMID 18972196.
- ↑ Lee, H R; Moon, Y S; Yeom, C H; Kim, K W; Chun, J Y; Kim, H K; Choi, H S; Kim, D K; Chung, T S (1997). "Cowden's disease--a report on the first case in Korea and literature review". Journal of Korean Medical Science. 12 (6): 570. doi:10.3346/jkms.1997.12.6.570. ISSN 1011-8934.
- ↑ Guimarães, Patrícia de Barros; Branco, Adeíza de Alencar; Carvalho, Elaine; Lima, Francisco Eduardo; Almeida, José Roberto; Santos, Josemir Belo dos; Villa, Luisa; Rodrigues, Sílvia Helena; Siqueira, Roberta; De Perreli, Tatiana (2002). "Síndrome de Cowden: relato de um caso". Anais Brasileiros de Dermatologia. 77 (6): 711–720. doi:10.1590/S0365-05962002000600009. ISSN 0365-0596.
- ↑ Masmoudi, Abderrahmen; Chermi, Zied Mohamed; Marrekchi, Slaheddine; Raida, Ben Salah; Boudaya, Sonia; Mseddi, Madiha; Jalel, Meziou Taha; Turki, Hamida (2011). "Cowden syndrome". Journal of Dermatological Case Reports. 5 (1). doi:10.3315/jdcr.2011.1063. ISSN 1898-7249.