five

Supplementary Material for: Co-occurrence of DNET and Hodgkin's Lymphoma in a patient with Noonan syndrome and mutation in the PTPN11 gene

收藏
NIAID Data Ecosystem2026-05-02 收录
下载链接:
https://figshare.com/articles/dataset/Supplementary_Material_for_Co-occurrence_of_DNET_and_Hodgkin_s_Lymphoma_in_a_patient_with_Noonan_syndrome_and_mutation_in_the_PTPN11_gene/29092094
下载链接
链接失效反馈
官方服务:
资源简介:
Noonan syndrome (NS) is a genetic disorder which belongs to the RASopathy family, characterized by craniofacial dysmorphisms, short stature, congenital heart defects, and an increased predisposition to malignancies. Although hematologic malignancies, neuroblastomas and certain solid tumors have been documented in NS, the co-occurrence of dysembryoplastic neuroepithelial tumor (DNET) and Hodgkin’s lymphoma, has not been previously reported in the literature. We present the case of an 11-year-old boy with NS caused by a pathogenic variant in the PTPN11 gene who developed both a DNET and Hodgkin's Lymphoma. Notably, the patient had been receiving recombinant human growth hormone (rhGH) therapy prior to tumor diagnosis, raising concerns about potential contributing factors. Through a literature review, we identified reports of DNETs and lymphomas in patients with NS, highlighting the variability in genetic mutations and clinical presentations. However, no predominant PTPN11 variant was associated with a specific tumor predisposition. This case underscores the complex relationship between NS and tumor development, reinforcing the importance of individualized surveillance strategies, particularly in patients undergoing rhGH therapy. Further studies are needed to clarify the oncogenic potential of specific NS-associated mutations and to establish evidence-based guidelines for cancer surveillance in these patients.
创建时间:
2025-05-17
二维码
社区交流群
二维码
科研交流群
商业服务