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A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Vocke, Cathy D; Fleming, Leah R; Piskorski, Anna M; Amin, Ali; Phornphutkul, Chanika; de la Monte, Suzanne; Vilboux, Thierry; Duncan, Folami; Pellegrino, Joan; Braddock, Bonnie; Middelton, Lindsay A; Schmidt, Laura S; Merino, Maria J; Cowen, Edward W; Introne, Wendy J; Linehan, W Marston; Smith, Ann C M.
Afiliación
  • Vocke CD; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
  • Fleming LR; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Piskorski AM; Department of Genetics, Saint Luke's Genetics and Metabolic Clinic, Boise, Idaho, USA.
  • Amin A; Department of Pathology, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA.
  • Phornphutkul C; Department of Pathology, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA.
  • de la Monte S; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA.
  • Vilboux T; Department of Pathology, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA.
  • Duncan F; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Pellegrino J; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Braddock B; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Middelton LA; Department of Pediatric Emergency Medicine, Johns Hopkins Children's Center, Baltimore, Maryland, USA.
  • Schmidt LS; Medical Genetics, Upstate Medical University, Syracuse, New York, USA.
  • Merino MJ; Medical Genetics, Upstate Medical University, Syracuse, New York, USA.
  • Cowen EW; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
  • Introne WJ; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
  • Linehan WM; Basic Science Program, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
  • Smith ACM; Laboratory of Pathology Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
Am J Med Genet A ; 191(2): 490-497, 2023 02.
Article en En | MEDLINE | ID: mdl-36513625
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.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Carcinoma de Células Renales / Síndrome de Birt-Hogg-Dubé / Síndrome de Smith-Magenis / Neoplasias Renales Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Límite: Adult / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Carcinoma de Células Renales / Síndrome de Birt-Hogg-Dubé / Síndrome de Smith-Magenis / Neoplasias Renales Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Límite: Adult / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos