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A family with PTEN mutations with malignancy and an unusually high number of offspring with autism spectrum disorder: a case report.

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  • المؤلفون: Gruhl SL;Gruhl SL; Sharma P; Sharma P; Sharma P; Han TS; Han TS; Han TS
  • المصدر:
    Journal of medical case reports [J Med Case Rep] 2018 Nov 28; Vol. 12 (1), pp. 353. Date of Electronic Publication: 2018 Nov 28.
  • نوع النشر :
    Case Reports; Journal Article
  • اللغة:
    English
  • معلومة اضافية
    • المصدر:
      Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: [London] : BioMed Central, [2007-
    • الموضوع:
      Hamartoma Syndrome, Multiple*/complications ; Hamartoma Syndrome, Multiple*/genetics ; Hamartoma Syndrome, Multiple*/physiopathology; Autism Spectrum Disorder/*genetics ; Breast Neoplasms/*genetics ; Carcinoma, Renal Cell/*genetics ; Genetic Predisposition to Disease/*genetics ; Kidney Neoplasms/*genetics ; PTEN Phosphohydrolase/*genetics; Autism Spectrum Disorder/diagnosis ; Breast Neoplasms/prevention & control ; Carcinoma, Renal Cell/surgery ; Child ; Family ; Female ; Humans ; Kidney Neoplasms/surgery ; Male ; Middle Aged ; Nephrectomy ; Thyroidectomy ; Watchful Waiting
    • نبذة مختصرة :
      Background: Cowden's syndrome (OMIM:158350), a rare genetic disorder (incidence ~ 1:250,000), is caused by mutations of the tumor suppressor gene PTEN. In this report, we describe clinical manifestations of a 56-year-old patient diagnosed with Cowden's syndrome and his family with PTEN mutations. The family has an unusually high number of offspring with autism spectrum disorder.
      Case Presentation: Except for his 80-year-old Caucasian father, all of our index case's living Caucasian kindred (three children, brother, and nephew) had PTEN mutations and macrocephaly. Prior to genetic testing, his mother and sister died of breast cancer at 42 and 38 years old, respectively. After PTEN mutation was identified, our patient underwent complete thyroidectomy (histology showing micropapillary carcinoma) and right nephrectomy for renal cell carcinoma. All of his three children (13-year-old son, 11- and 8-year-old daughters) have been diagnosed with autism spectrum disorder. His son and brother underwent total thyroidectomy. His nephew had thyroid nodules. Management of Cowden's syndrome requires clinical examinations and investigations every 6 to 12 months from 18 years old or 5 years before the family's earliest age of cancer diagnosis and should focus on all clinical manifestations associated with PTEN mutations to identify early abnormal changes in skin, breasts, thyroid, endometrium, gut, and kidneys. Input from specialists across different disciplines is necessary.
      Conclusions: We describe a man and his family with PTEN mutations who have increased risk of cancers and an unusually high number of offspring with autism spectrum disorder. Early recognition and close surveillance are vital in order to provide treatment and early screening for asymptomatic at-risk relatives.
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    • Contributed Indexing:
      Keywords: Cowden’s syndrome; Mucocutaneous manifestations; PTEN hamartoma tumor syndrome
    • الرقم المعرف:
      EC 3.1.3.67 (PTEN Phosphohydrolase)
      EC 3.1.3.67 (PTEN protein, human)
    • الموضوع:
      Date Created: 20181129 Date Completed: 20190325 Latest Revision: 20190325
    • الموضوع:
      20250114
    • الرقم المعرف:
      PMC6260738
    • الرقم المعرف:
      10.1186/s13256-018-1863-0
    • الرقم المعرف:
      30482242