Skip NavigationSkip to Content
Return Return to Search Results

A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening

  1. Author:
    Vocke, Cathy D
    Fleming, Leah R [ORCID]
    Piskorski, Anna M
    Amin, Ali
    Phornphutkul, Chanika
    de la Monte, Suzanne
    Vilboux, Thierry
    Duncan, Folami
    Pellegrino, Joan
    Braddock, Bonnie
    Middelton, Lindsay A
    Schmidt,Laura
    Merino, Maria J
    Cowen, Edward W
    Introne, Wendy J
    Linehan, W Marston
    Smith, Ann C M [ORCID]

  2. Author Address

    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA., Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Department of Genetics, Saint Luke 39;s Genetics and Metabolic Clinic, Boise, Idaho, USA., Department of Pathology, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA., Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA., Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA., Department of Pediatric Emergency Medicine, Johns Hopkins Children 39;s Center, Baltimore, Maryland, USA., Medical Genetics, Upstate Medical University, Syracuse, New York, USA., Basic Science Program, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA., Laboratory of Pathology Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA., Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland, USA.,
    1. Year: 2022
    2. Date: Dec 13
    3. Epub Date: 2022 12 13
  2. Journal: American Journal of Medical Genetics. Part A
  4. Type of Article: Article
  1. Abstract:

    We report a series of four unrelated adults with Smith-Magenis syndrome (SMS) and concomitant features of Birt-Hogg-Dubé (BHD) syndrome based upon haploinsufficiency for FLCN and characteristic renal cell carcinomas and/or evidence of cutaneous fibrofolliculomas. Three of the cases constitute the first known association of histopathologically verified characteristic BHD-associated renal tumors in adults with SMS; the fourth was identified to have histologically confirmed skin fibrofolliculomas. Molecular analysis documented second-hit FLCN mutations in two of the three cases with confirmed BHD renal pathology. These cases suggest the need to expand management recommendations for SMS to include kidney cancer surveillance starting at 20?years of age, as per the screening recommendations for BHD syndrome. © 2022 Wiley Periodicals LLC. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

    See More

  1. Keywords:

External Sources

  1. View Full Text
  2. DOI: 10.1002/ajmg.a.63049
  3. PMID: 36513625

Library Notes

  1. Fiscal Year: FY2022-2023
NCI at Frederick

You are leaving a government website.

This external link provides additional information that is consistent with the intended purpose of this site. The government cannot attest to the accuracy of a non-federal site.

Linking to a non-federal site does not constitute an endorsement by this institution or any of its employees of the sponsors or the information and products presented on the site. You will be subject to the destination site's privacy policy when you follow the link.

ContinueCancel