Cowden syndrome laboratory findings

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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:
  • Sequence analysis of coding region
  • Deletion/duplication analysis
  • Sequence analysis of promoter region