Scholarlink

Background <p>Noonan syndrome (NS) is a developmental malformation condition in the RASopathies group, characterized by variable clinical and molecular features. The syndrome is genetically heterogeneous, with the most frequent mutation found in approximately 50% of cases occurring in the <i>PTPN11</i> gene. NS is reported to be associated with neurogenic, hematopoietic, melanocytic and other visceral malignancies, but osteosarcoma development has not been reported in association with NS.</p> Case Report <p>Therefore, we report the first case of a male with NS who developed osteosarcoma of the mandible in a background of long-standing polyostotic fibrous dysplasia (FD) of the craniofacial bones.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Osteosarcoma Arising in Noonan Syndrome/RASopathy Complex: First Case Report

  • 期刊论文

  • 发表日期：

    2025年5月8日

查看全文
  • Najwa Yousef,
  • John Basile,
  • Michael E. Kallen,
  • John F. Caccamese,
  • Donita Dyalram,
  • Joshua Lubek,
  • Farnaz Valaei,
  • Jeffery Price,
  • Layne N. Raborn,
  • Michael T. Collins,
  • Ahmed S. Sultan

摘要

Background

Noonan syndrome (NS) is a developmental malformation condition in the RASopathies group, characterized by variable clinical and molecular features. The syndrome is genetically heterogeneous, with the most frequent mutation found in approximately 50% of cases occurring in the PTPN11 gene. NS is reported to be associated with neurogenic, hematopoietic, melanocytic and other visceral malignancies, but osteosarcoma development has not been reported in association with NS.

Case Report

Therefore, we report the first case of a male with NS who developed osteosarcoma of the mandible in a background of long-standing polyostotic fibrous dysplasia (FD) of the craniofacial bones.