Cowden syndrome diagnostic study of choice: Difference between revisions

Jump to navigation Jump to search
 
(16 intermediate revisions by the same user not shown)
Line 3: Line 3:
{{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>
=== Study of choice ===
* [[Biopsy]] of the [[Trichilemmoma|trichilemmomas]] (≥3, at least one [[biopsy]] proven) is one of the gold standard test for the [[diagnosis]] of [[cowden syndrome]].
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
* [[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]].
OR
 
The following result of [gold standard test] is confirmatory of [disease name]:
* [Result 1]
* [Result 2]
 
OR
 
[Name of the investigation] must be performed when:
* The patient presents with [symptom/sign 1], [symptom/sign 2], and [symptom/sign 3].
* A [name of test] is positive for [sign 1], [sign 2], and [sign 3] in the patient.
 
OR
 
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
 
OR
 
The diagnostic study of choice for [disease name] is [name of the investigation].
 
OR
 
There is no single diagnostic study of choice for the diagnosis of [disease name].
 
OR
 
There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].
 
OR
 
[Disease name] is primarily diagnosed based on the clinical presentation.
 
OR
 
Investigations:
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.
 
==== The comparison of various diagnostic studies for [disease name] ====
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Test
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 1
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 2
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|}
<small> [Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity</small>
 
===== Diagnostic results =====
The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:
* [Finding 1]
* [Finding 2]
 
===== Sequence of Diagnostic Studies =====
The [name of investigation] must be performed when:
* The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
* A positive [test] is detected in the patient, to confirm the diagnosis.
 
OR
 
The various investigations must be performed in the following order:
* [Initial investigation]
* [2nd investigation]
 
=== Name of Diagnostic Criteria ===
 
'''It is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.'''
 
[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
 
OR
 
There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
 
OR
 
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
 
OR
 
The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
[Disease name] may be diagnosed at any time if one or more of the following criteria are met:
* Criteria 1
* Criteria 2
* Criteria 3
 
OR
 
'''IF there are clear, established diagnostic criteria'''
 
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
 
OR
 
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
'''IF there are no established diagnostic criteria'''
 
There are no established criteria for the diagnosis of [disease name].


==Diagnosis==
==Diagnosis==
Line 130: Line 15:
* 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
Line 141: Line 26:
|-
|-
|
|
* [[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]]  
|
|
Line 151: Line 36:
** [[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]]
|}
|}
==== '''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

Cowden syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Cowden Syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Cowden syndrome diagnostic study of choice On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Cowden syndrome diagnostic study of choice

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Cowden syndrome diagnostic study of choice

CDC on Cowden syndrome diagnostic study of choice

Cowden syndrome diagnostic study of choice in the news

Blogs on Cowden syndrome diagnostic study of choice

Directions to Hospitals Treating Psoriasis

Risk calculators and risk factors for Cowden syndrome diagnostic study of choice

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

Diagnosis

Diagnostic Criteria

Pilarski et al diagnostic criteria:

Major criteria[7]

Minor criteria[8]

Pathognomonic criteria

References

  1. 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.
  2. 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.
  3. 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)
  4. 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.
  5. 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.
  6. 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.
  7. 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)
  8. 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)
  9. 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.

Template:WH Template:WS