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A Rare Case of Diffuse-type Tenosynovial Giant Cell Tumor in a Teenager With Noonan Syndrome.
Guiffre, Danielle; Brien, Earl; Shon, Wonwoo; Geffner, Mitchell E.
Afiliação
  • Guiffre D; Center For Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles (CHLA), Keck School of Medicine of USC.
  • Brien E; Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA.
  • Shon W; Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA.
  • Geffner ME; Center For Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles (CHLA), Keck School of Medicine of USC.
J Pediatr Hematol Oncol ; 44(2): e557-e560, 2022 03 01.
Article em En | MEDLINE | ID: mdl-34133387
Noonan syndrome is a common autosomal dominant disorder associated with an increased risk of malignancy. We report a 16-year-old female with Noonan syndrome (KRAS gene variant, Q22R) and diffuse-type tenosynovial giant cell tumor, a proliferative disorder that has been rarely reported in this population. These tumors may represent a complication of the dysregulated RAS/MAPK signaling pathway that underlies Noonan syndrome. They lack typical clinical features, causing misdiagnosis and delays in management, which could lead to osseous invasion requiring more complicated surgical procedures. Increased awareness of this association will improve the clinical outcomes of patients with Noonan syndrome who develop diffuse-type tenosynovial giant cell tumors.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tumor de Células Gigantes de Bainha Tendinosa / Síndrome de Noonan Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tumor de Células Gigantes de Bainha Tendinosa / Síndrome de Noonan Idioma: En Ano de publicação: 2022 Tipo de documento: Article