Hamartoma screening: Difference between revisions
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==Overview== | ==Overview== | ||
Screening for sporadic [[hamartoma]] is not recommended. However, according to the [[American College of Gastroenterology Guidelines|American College of Gastroenterology]] (ACG), screening for multiple [[hamartomas]] by genetic evaluation is recommended among patients with [[Hamartoma|hamartomatous]] [[polyposis]] syndromes such as [[juvenile polyposis syndrome]], [[Peutz-Jeghers syndrome]], and [[Cowden syndrome]]. | Screening for sporadic [[hamartoma]] is not recommended. However, according to the [[American College of Gastroenterology Guidelines|American College of Gastroenterology]] (ACG), [[screening]] for multiple [[hamartomas]] by genetic evaluation is recommended among patients with [[Hamartoma|hamartomatous]] [[polyposis]] syndromes such as [[juvenile polyposis syndrome]], [[Peutz-Jeghers syndrome]], and [[Cowden syndrome]]. | ||
==Screening== | ==Screening== | ||
According to the [[American College of Gastroenterology Guidelines|American College of Gastroenterology]], screening for multiple [[hamartomas]] is recommended among patients with :<ref name="pmid11073535">{{cite journal |vauthors=Eng C |title=Will the real Cowden syndrome please stand up: revised diagnostic criteria |journal=J. Med. Genet. |volume=37 |issue=11 |pages=828–30 |year=2000 |pmid=11073535 |pmc=1734465 |doi= |url=}}</ref><ref name="pmid7855339">{{cite journal |vauthors=Brown K, Mund DF, Aberle DR, Batra P, Young DA |title=Intrathoracic calcifications: radiographic features and differential diagnoses |journal=Radiographics |volume=14 |issue=6 |pages=1247–61 |year=1994 |pmid=7855339 |doi=10.1148/radiographics.14.6.7855339 |url=}}</ref><ref name="JelsigQvist2014">{{cite journal|last1=Jelsig|first1=Anne|last2=Qvist|first2=Niels|last3=Brusgaard|first3=Klaus|last4=Nielsen|first4=Claus|last5=Hansen|first5=Tine|last6=Ousager|first6=Lilian|title=Hamartomatous polyposis syndromes: A review|journal=Orphanet Journal of Rare Diseases|volume=9|issue=1|year=2014|pages=101|issn=1750-1172|doi=10.1186/1750-1172-9-101}}</ref><ref name="pmid20301661">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref> | According to the [[American College of Gastroenterology Guidelines|American College of Gastroenterology]], [[screening]] for multiple [[hamartomas]] is recommended among patients with :<ref name="pmid11073535">{{cite journal |vauthors=Eng C |title=Will the real Cowden syndrome please stand up: revised diagnostic criteria |journal=J. Med. Genet. |volume=37 |issue=11 |pages=828–30 |year=2000 |pmid=11073535 |pmc=1734465 |doi= |url=}}</ref><ref name="pmid7855339">{{cite journal |vauthors=Brown K, Mund DF, Aberle DR, Batra P, Young DA |title=Intrathoracic calcifications: radiographic features and differential diagnoses |journal=Radiographics |volume=14 |issue=6 |pages=1247–61 |year=1994 |pmid=7855339 |doi=10.1148/radiographics.14.6.7855339 |url=}}</ref><ref name="JelsigQvist2014">{{cite journal|last1=Jelsig|first1=Anne|last2=Qvist|first2=Niels|last3=Brusgaard|first3=Klaus|last4=Nielsen|first4=Claus|last5=Hansen|first5=Tine|last6=Ousager|first6=Lilian|title=Hamartomatous polyposis syndromes: A review|journal=Orphanet Journal of Rare Diseases|volume=9|issue=1|year=2014|pages=101|issn=1750-1172|doi=10.1186/1750-1172-9-101}}</ref><ref name="pmid20301661">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref> | ||
*[[Genetic]] evaluation | *[[Genetic]] evaluation | ||
*Annual [[thyroid]] ultrasound | *Annual [[thyroid]] [[ultrasound]] | ||
*Skin check with physical examination | *Skin check with [[physical examination]] | ||
*Monthly [[breast]] self-examination | *Monthly [[breast]] self-examination, annual [[breast]] and [[Endometrium|endometrial]] screening ([[mammogram]], [[transvaginal ultrasound]], [[biopsy]], and [[MRI]] may also be incorporated)<ref name="pmid11073535">{{cite journal |vauthors=Eng C |title=Will the real Cowden syndrome please stand up: revised diagnostic criteria |journal=J. Med. Genet. |volume=37 |issue=11 |pages=828–30 |year=2000 |pmid=11073535 |pmc=1734465 |doi= |url=}}</ref> | ||
*[[Colonoscopy]] | *[[Colonoscopy]] | ||
*[[Kidney|Renal]] imaging | *[[Kidney|Renal]] imaging | ||
Latest revision as of 19:41, 5 April 2019
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Hamartoma Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Hamartoma screening On the Web |
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American Roentgen Ray Society Images of Hamartoma screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2] Vamsikrishna Gunnam M.B.B.S [3]
Overview
Screening for sporadic hamartoma is not recommended. However, according to the American College of Gastroenterology (ACG), screening for multiple hamartomas by genetic evaluation is recommended among patients with hamartomatous polyposis syndromes such as juvenile polyposis syndrome, Peutz-Jeghers syndrome, and Cowden syndrome.
Screening
According to the American College of Gastroenterology, screening for multiple hamartomas is recommended among patients with :[1][2][3][4]
- Genetic evaluation
- Annual thyroid ultrasound
- Skin check with physical examination
- Monthly breast self-examination, annual breast and endometrial screening (mammogram, transvaginal ultrasound, biopsy, and MRI may also be incorporated)[1]
- Colonoscopy
- Renal imaging
References
- ↑ 1.0 1.1 Eng C (2000). "Will the real Cowden syndrome please stand up: revised diagnostic criteria". J. Med. Genet. 37 (11): 828–30. PMC 1734465. PMID 11073535.
- ↑ Brown K, Mund DF, Aberle DR, Batra P, Young DA (1994). "Intrathoracic calcifications: radiographic features and differential diagnoses". Radiographics. 14 (6): 1247–61. doi:10.1148/radiographics.14.6.7855339. PMID 7855339.
- ↑ Jelsig, Anne; Qvist, Niels; Brusgaard, Klaus; Nielsen, Claus; Hansen, Tine; Ousager, Lilian (2014). "Hamartomatous polyposis syndromes: A review". Orphanet Journal of Rare Diseases. 9 (1): 101. doi:10.1186/1750-1172-9-101. ISSN 1750-1172.
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty
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