Cowden syndrome laboratory findings: Difference between revisions
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[[Laboratory]] findings consistent with the [[diagnosis]] of [[cowden syndrome]] include: | [[Laboratory]] findings consistent with the [[diagnosis]] of [[cowden syndrome]] include: | ||
*[[Complete blood count|CBC count:]] | *[[Complete blood count|CBC count:]] | ||
*[[Thyroid function tests]] | **Sign of [[anemia]] may be helpful in screening for [[malignancy]]. | ||
*[[Urinalysis]] | **Increase in [[WBC]] count may rise the suspicion for [[Lymphoproliferative disorders|lymphoproliferative disorder]]. | ||
*[[Thyroid function tests]]: | |||
**May be helpful in diagnosis of [[hashimoto thyroiditis]], [[adenomas]], and [[carcinomas]]. | |||
*[[Urinalysis]]: | |||
**May be helpful in [[diagnosis]] of [[kidney]] or [[bladder]] [[malignancy]] when detected [[proteinuria]] or [[hematuria]]. | |||
*[[Calcium]] level | *[[Calcium]] level | ||
*[[Skin biopsy]] | **[[Calcium]] level helps in [[diagnosis]] of [[parathyroid]] diseases. | ||
* [[Liver function tests]]([[Liver function tests|LFT's]]): | |||
** May be helpful in [[diagnosis]] of [[hepatocellular carcinoma]]. | |||
*[[Skin biopsy]]: | |||
**May be helpful in [[diagnosis]] of [[Trichilemmoma|trichilemmomas]] and [[Sclerotic fibroma|sclerotic fibromas]]. | |||
=== Gene testing === | === Gene testing === | ||
*''[[PTEN (gene)|PTEN]]'' [[Mutations|mutation]] testing by following: | *''[[PTEN (gene)|PTEN]]'' [[Mutations|mutation]] testing by following:<ref name="pmid216593472">{{cite journal |vauthors=Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW |title=Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features |journal=J. Med. Genet. |volume=48 |issue=8 |pages=505–12 |date=August 2011 |pmid=21659347 |doi=10.1136/jmg.2011.088807 |url=}}</ref> | ||
**Sequence analysis of [[coding region]] | **Sequence analysis of [[coding region]] | ||
**Deletion/duplication analysis | **Deletion/duplication analysis | ||
Revision as of 18:27, 7 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
Laboratory findings consistent with the diagnosis of cowden syndrome include skin biopsy, chemistry panels, urinalysis, thyroid function tests and cbc count.
Laboratory Findings
Laboratory findings consistent with the diagnosis of cowden syndrome include:
- CBC count:
- Sign of anemia may be helpful in screening for malignancy.
- Increase in WBC count may rise the suspicion for lymphoproliferative disorder.
- Thyroid function tests:
- May be helpful in diagnosis of hashimoto thyroiditis, adenomas, and carcinomas.
- Urinalysis:
- May be helpful in diagnosis of kidney or bladder malignancy when detected proteinuria or hematuria.
- Calcium level
- Calcium level helps in diagnosis of parathyroid diseases.
- Liver function tests(LFT's):
- May be helpful in diagnosis of hepatocellular carcinoma.
- Skin biopsy:
- May be helpful in diagnosis of trichilemmomas and sclerotic fibromas.
Gene testing
- PTEN mutation testing by following:[1]
- Sequence analysis of coding region
- Deletion/duplication analysis
- Sequence analysis of promoter region
References
- ↑ Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW (August 2011). "Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features". J. Med. Genet. 48 (8): 505–12. doi:10.1136/jmg.2011.088807. PMID 21659347.