Cowden syndrome diagnostic study of choice: Difference between revisions
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{{CMG}}; {{AE}} {{VKG}} | {{CMG}}; {{AE}} {{VKG}} | ||
== Overview == | == Overview == | ||
[[Biopsy]] is the gold standard and definitive test for [[diagnosis]] of [[Cowden syndrome|cowden syndrome.]] The [[diagnostic criteria]] of [[cowden syndrome]] is based on the [[Cowden syndrome]]/PHTS criteria which include Pilarski et al [[diagnostic]] [[criteria]]. | |||
== Diagnostic Study of Choice == | == Diagnostic Study of Choice == | ||
* [[Biopsy]] of the [[skin]] [[lesions]], is the gold standard test for the [[diagnosis]] of [[cowden syndrome]].<ref name="GoseinNarinesingh2016">{{cite journal|last1=Gosein|first1=Maria Angela|last2=Narinesingh|first2=Dylan|last3=Nixon|first3=Cemonne Ann-Alicia Celeste|last4=Goli|first4=Sanjeeva Reddy|last5=Maharaj|first5=Paramanand|last6=Sinanan|first6=Alexander|title=Multi-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature|journal=BMC Research Notes|volume=9|issue=1|year=2016|issn=1756-0500|doi=10.1186/s13104-016-2195-z}}</ref> | |||
* [[Biopsy]] of the [[Trichilemmoma|trichilemmomas]] (≥3, at least one [[biopsy]] proven) is one of the gold standard test for the [[diagnosis]] of [[cowden syndrome]]. | |||
[ | * [[Biopsy]] of the core [[biopsy]] of the [[Breast|breasts]] is the gold standard test for the [[diagnosis]] of [[breast cancer]] [[cowden syndrome]].<ref name="HuBangiyev2015">{{cite journal|last1=Hu|first1=Zishuo Ian|last2=Bangiyev|first2=Lev|last3=Seidman|first3=Roberta J.|last4=Cohen|first4=Jules A.|title=Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome|journal=Case Reports in Oncological Medicine|volume=2015|year=2015|pages=1–4|issn=2090-6706|doi=10.1155/2015/546297}}</ref> | ||
* [[Biopsy]] of the oral [[papillomas]] particularly on [[tongue]] and [[gingiva]], is one of the [[diagnostic study of choice]]. | |||
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==Diagnosis== | ==Diagnosis== | ||
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* The [[diagnostic criteria]] of [[cowden syndrome]] is based on the [[Cowden syndrome]]/PHTS criteria, which include: | * The [[diagnostic criteria]] of [[cowden syndrome]] is based on the [[Cowden syndrome]]/PHTS criteria, which include: | ||
'''Pilarski et al diagnostic criteria''': | '''Pilarski et al diagnostic criteria''': | ||
* Pilarski et al [[diagnostic criteria]] is proposed by [[National Comprehensive Cancer Network]] (NCCN) which include<ref name="pmid203016612">{{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> | * Pilarski et al [[diagnostic criteria]] is proposed by [[National Comprehensive Cancer Network]] (NCCN) which include<ref name="pmid203016612">{{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><ref name="pmid24136893">{{cite journal |vauthors=Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E |title=Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria |journal=J. Natl. Cancer Inst. |volume=105 |issue=21 |pages=1607–16 |date=November 2013 |pmid=24136893 |doi=10.1093/jnci/djt277 |url=}}</ref><ref name="pmid24037976">{{cite journal |vauthors=Mester JL, Moore RA, Eng C |title=PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing? |journal=Oncologist |volume=18 |issue=10 |pages=1083–90 |date=2013 |pmid=24037976 |pmc=3805149 |doi=10.1634/theoncologist.2013-0174 |url=}}</ref> | ||
* [[Diagnosis]] require | * [[Diagnosis]] require<ref name="pmid26700035">{{cite journal |vauthors=Ngeow J, Sesock K, Eng C |title=Breast cancer risk and clinical implications for germline PTEN mutation carriers |journal=Breast Cancer Res. Treat. |volume=165 |issue=1 |pages=1–8 |date=August 2017 |pmid=26700035 |doi=10.1007/s10549-015-3665-z |url=}}</ref> | ||
** Any two major positive [[criteria]] [[symptoms]] or | ** Any two major positive [[criteria]] [[symptoms]] or | ||
** One major and two minor positive [[criteria]] [[symptoms]] or | ** One major and two minor positive [[criteria]] [[symptoms]] or | ||
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* [[Macrocephaly]] ([[occipital]] frontal circumference ≥97th percentile) | * [[Macrocephaly]] ([[occipital]] [[frontal]] circumference ≥97th percentile) | ||
* [[Breast cancer]] | * [[Breast cancer]] | ||
* [[Thyroid cancer]] | * [[Thyroid cancer]] | ||
* [[Endometrial carcinoma]] | * [[Endometrial carcinoma]] | ||
* [[Gastrointestinal]] [[hamartomas]] | * [[Gastrointestinal]] [[hamartomas]]([[Ganglioneuroma|ganglioneuromas]]) | ||
* [[Penis|Penile]] [[pigmentation]] | * [[Penis|Penile]] [[pigmentation]] | ||
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** [[Intellectual disability]] (IQ ≤75) | ** [[Intellectual disability]] (IQ ≤75) | ||
* [[Colon cancer]] | * [[Colon cancer]] | ||
* [[Esophageal]] [[glycogenic acanthosis]] (≥3) | |||
* [[Fibroma|Fibromas]] | * [[Fibroma|Fibromas]] | ||
* [[Uterine]] [[fibroids]] | * [[Uterine]] [[fibroids]] | ||
* [[Genitourinary]] [[tumors]] | * [[Genitourinary]] [[tumors]]([[renal cell carcinoma]]) | ||
* [[Genitourinary]] [[malformation]] | * [[Genitourinary]] [[malformation]] | ||
* [[Glycogenic acanthosis]] of the [[esophagus]] | * [[Glycogenic acanthosis]] of the [[esophagus]] | ||
* [[Testicular]] [[lipomatosis]] | * [[Testicular]] [[lipomatosis]] | ||
* [[Vascular anomalies]] | |||
* [[Thyroid cancer]] | |||
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==== '''Pathognomonic criteria''' ==== | |||
* [[Mucocutaneous]] lesions which include:<ref name="PilarskiBurt2013">{{cite journal|last1=Pilarski|first1=R.|last2=Burt|first2=R.|last3=Kohlman|first3=W.|last4=Pho|first4=L.|last5=Shannon|first5=K. M.|last6=Swisher|first6=E.|title=Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria|journal=JNCI Journal of the National Cancer Institute|volume=105|issue=21|year=2013|pages=1607–1616|issn=0027-8874|doi=10.1093/jnci/djt277}}</ref> | |||
** [[Trichilemmoma|Trichilemmomas]] | |||
** Acral [[keratoses]] | |||
** Papillomatous [[lesions]] | |||
** [[Mucosal]] [[lesions]] | |||
==References== | ==References== | ||
Latest revision as of 15:35, 13 March 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
Biopsy is the gold standard and definitive test for diagnosis of cowden syndrome. The diagnostic criteria of cowden syndrome is based on the Cowden syndrome/PHTS criteria which include Pilarski et al diagnostic criteria.
Diagnostic Study of Choice
- Biopsy of the skin lesions, is the gold standard test for the diagnosis of cowden syndrome.[1]
- Biopsy of the trichilemmomas (≥3, at least one biopsy proven) is one of the gold standard test for the diagnosis of cowden syndrome.
- Biopsy of the core biopsy of the breasts is the gold standard test for the diagnosis of breast cancer cowden syndrome.[2]
- Biopsy of the oral papillomas particularly on tongue and gingiva, is one of the diagnostic study of choice.
Diagnosis
Diagnostic Criteria
- The diagnostic criteria of cowden syndrome is based on the Cowden syndrome/PHTS criteria, which include:
Pilarski et al diagnostic criteria:
- Pilarski et al diagnostic criteria is proposed by National Comprehensive Cancer Network (NCCN) which include[3][4][5]
- Diagnosis require[6]
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Major criteria[7] |
Minor criteria[8] |
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Pathognomonic criteria
- Mucocutaneous lesions which include:[9]
- Trichilemmomas
- Acral keratoses
- Papillomatous lesions
- Mucosal lesions
References
- ↑ Gosein, Maria Angela; Narinesingh, Dylan; Nixon, Cemonne Ann-Alicia Celeste; Goli, Sanjeeva Reddy; Maharaj, Paramanand; Sinanan, Alexander (2016). "Multi-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature". BMC Research Notes. 9 (1). doi:10.1186/s13104-016-2195-z. ISSN 1756-0500.
- ↑ Hu, Zishuo Ian; Bangiyev, Lev; Seidman, Roberta J.; Cohen, Jules A. (2015). "Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome". Case Reports in Oncological Medicine. 2015: 1–4. doi:10.1155/2015/546297. ISSN 2090-6706.
- ↑ 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
|title=(help) - ↑ Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (November 2013). "Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria". J. Natl. Cancer Inst. 105 (21): 1607–16. doi:10.1093/jnci/djt277. PMID 24136893.
- ↑ Mester JL, Moore RA, Eng C (2013). "PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?". Oncologist. 18 (10): 1083–90. doi:10.1634/theoncologist.2013-0174. PMC 3805149. PMID 24037976.
- ↑ Ngeow J, Sesock K, Eng C (August 2017). "Breast cancer risk and clinical implications for germline PTEN mutation carriers". Breast Cancer Res. Treat. 165 (1): 1–8. doi:10.1007/s10549-015-3665-z. PMID 26700035.
- ↑ 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
|title=(help) - ↑ 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
|title=(help) - ↑ Pilarski, R.; Burt, R.; Kohlman, W.; Pho, L.; Shannon, K. M.; Swisher, E. (2013). "Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria". JNCI Journal of the National Cancer Institute. 105 (21): 1607–1616. doi:10.1093/jnci/djt277. ISSN 0027-8874.