Multiple organ nodules or polyps

  • Junnan Hu
    Correspondence
    Corresponding author at: No.107, Wenhuaxi Road, Jinan, Shandong, 250012, China.
    Affiliations
    Department of Gastroenterology, Qilu Hospital, Cheloo College of Medicine, Shandong University, Jinan, Shandong, China

    Laboratory of Translational Gastroenterology, Qilu Hospital, Cheloo College of Medicine, Shandong University, Jinan, Shandong, China
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  • Zhen Li
    Correspondence
    Corresponding author at: No.107, Wenhuaxi Road, Jinan, Shandong, 250012, China.
    Affiliations
    Department of Gastroenterology, Qilu Hospital, Cheloo College of Medicine, Shandong University, Jinan, Shandong, China

    Laboratory of Translational Gastroenterology, Qilu Hospital, Cheloo College of Medicine, Shandong University, Jinan, Shandong, China
    Search for articles by this author
Published:October 26, 2021DOI:https://doi.org/10.1016/j.ejim.2021.10.009

      Keywords

      1. Question

      A 48-year old female presented with intermittent epigastric pain for 2 months accompanied with belching, nausea, vomiting and occasionally melena. She had endometrial polypectomy and thyroidectomy in 2018. A resection of nodules in the right lung was performed in 2019. In addition, she had a history of breast cyst. The patient had no clear family history of any cancerous disease.
      The physical examination showed multiple verrucous protuberances on the tongue and both hands (Fig. 1, Fig. 2). The patient had abdominal muscle tension, periumbilical tenderness without rebound pain. Physical examinations of other parts were negative. Laboratory examinations showed mild decrease in white blood cells, thyroglobulin of 0.32ng/ml, and calcium concentration of 2.90mmol/L. The T-SPOT, rheumatic series, ANCA, female tumor series, humoral immunity series, fecal, and HIV were either normal or negative.
      The gastroscopy found multiple polyps. Then a single-balloon enteroscopy (SBE) was performed, which showed multiple polypoid lesions in the lower ileum (Fig. 3). Pathologic diagoses of these polyps were all inflammatory polyps.
      Based on these findings, what is your diagnose?

      2. Answer to images: the Cowden syndrome

      Based on the history of endometrial polyps, thyroid and pulmonary nodules, multiple verrucous protuberances on tongue and hands, as well as endoscopic manifestations, Cowden Syndrome(CS) was considered. Therefore, genetic testing was performed and showed a mutation in the phosphatase and tensin homologue (PTEN) gene (c.1003C>T).
      CS was firstly described in 1963 as a rare autosomal dominant inherited disease characterized by increased risks for benign and malignant neoplastic lesions in multiple organs especially breast, thyroid, and genitourinary system[
      • Lloyd K.M.
      • Denis M.
      Cowden's disease: a possible new symptom complex with multiple system involvement.
      ]. Gastrointestinal (GI) polyposis is a common manifestation that can occur throughout the GI tract. There are growing evidences that patients with CS bear increased risks of gastrointestinal cancer. Therefore, regular screening of gastrointestinal tumors is necessary for patients with confirmed or suspected CS.
      Germline mutations in the PTEN tumor suppressor gene are found in 80% of patients with CS. According to American College of Gastroenterology Clinical Guideline[
      • Syngal S.
      • Brand R.E.
      • Church J.M.
      • et al.
      ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes.
      ], once a pathogenic mutation is found in patients with CS or related diseases, other family members should undergo mutation specific tests to determine if the disease exists for appropriate surveillance. At present, there is no effective treatment for CS. Due to the high incidence of tumors in CS patients, the treatment mainly involves regular tumor monitoring of specific organs such as thyroid, breast, uterus, and surgical treatment of existing tumors.

      Specific author contributions

      Junnan Hu: drafting of the manuscript
      Zhen Li: critical revision of the manuscript for important intellectual content; technical, or material support

      Financial support

      This work was supported by the Shandong Provincial Key Research and Development Program ( Major Scientific and Technological Innovation Project) (NO. 2019JZZY011007 ).

      Informed consent

      Informed consent was obtained from the patient to publish these images.

      Declaration of Competing Interest

      The authors disclose no conflicts.

      Reference

        • Lloyd K.M.
        • Denis M.
        Cowden's disease: a possible new symptom complex with multiple system involvement.
        Ann Intern Med. 1963; 58: 136-142
        • Syngal S.
        • Brand R.E.
        • Church J.M.
        • et al.
        ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes.
        Am J Gastroenterol. 2015; 110: 223-263