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

IF 3.2 Q2 PATHOLOGY

Head & Neck Pathology Pub Date : 2025-05-08 DOI:10.1007/s12105-025-01762-6

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

引用次数: 0

Abstract

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.

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Noonan综合征/RASopathy复合体引起的骨肉瘤：第一例报告。

背景：努南综合征（Noonan syndrome， NS）是RASopathies组的一种发育畸形，具有多种临床和分子特征。该综合征具有遗传异质性，在大约50%的病例中发现最常见的突变发生在PTPN11基因上。据报道，NS与神经源性、造血、黑素细胞和其他内脏恶性肿瘤有关，但骨肉瘤的发展尚未报道与NS相关。病例报告：因此，我们报告了第一例男性NS患者在颅面骨长期多骨纤维发育不良（FD）的背景下发展为下颌骨骨肉瘤。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Head & Neck Pathology PATHOLOGY-

CiteScore

5.70

自引率

9.50%

发文量

期刊介绍： Head & Neck Pathology presents scholarly papers, reviews and symposia that cover the spectrum of human surgical pathology within the anatomic zones of the oral cavity, sinonasal tract, larynx, hypopharynx, salivary gland, ear and temporal bone, and neck. The journal publishes rapid developments in new diagnostic criteria, intraoperative consultation, immunohistochemical studies, molecular techniques, genetic analyses, diagnostic aids, experimental pathology, cytology, radiographic imaging, and application of uniform terminology to allow practitioners to continue to maintain and expand their knowledge in the subspecialty of head and neck pathology. Coverage of practical application to daily clinical practice is supported with proceedings and symposia from international societies and academies devoted to this field. Single-blind peer review The journal follows a single-blind review procedure, where the reviewers are aware of the names and affiliations of the authors, but the reviewer reports provided to authors are anonymous. Single-blind peer review is the traditional model of peer review that many reviewers are comfortable with, and it facilitates a dispassionate critique of a manuscript.