Which lab studies are indicated in the workup of Peutz-Jeghers syndrome (PJS)?

Updated: Oct 11, 2018
  • Author: Buu Anh T To, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Laboratory studies include the following [15] :

  • Complete blood cell (CBC) count: The polyps of Peutz-Jeghers syndrome may ulcerate and be a source of blood loss and anemia; gastrointestinal bleeding may be massive but also microscopic, with subsequent iron deficiency, therefore, cell counts and iron studies should be monitored.
  • Iron studies
  • Fecal occult blood: Hemoccult should be performed to check for occult blood in the stool
  • Carcinoembryonic antigen (CEA): This test has been used by some clinicians for screening and monitoring of cancer degeneration.
  • Cancer antigen (CA)–19-9 and CA-125: CA-125 testing is indicated every year starting at age 18 years, and CA 19-9 is indicated every 1-2 years starting at age 25 years [75]

Genetic testing is available; however, not all families with Peutz-Jeghers syndrome map to the STK11/LKB1 locus. [23, 25, 82, 83] Thus, a negative genetic test does not exclude the diagnosis.

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