Cowden syndrome laboratory findings: Difference between revisions
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=== 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><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> | ||
**Sequence analysis of [[coding region]] | **Sequence analysis of [[coding region]] | ||
**Deletion/duplication analysis | **Deletion/duplication analysis | ||
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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][2][3]
- 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.
- ↑ 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.