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

in Hormone research in paediatrics by Caroline Rosa Pellicciari, Adriana Aparecida Siviero Miachon, Angela Maria Spinola E Castro, Andrea Maria Cappellano, Nasjla Saba da Silva, Frederico Adolfo Benevides Silva, Flavio Augusto Vercillo Luisi, Alexander A L Jorge, Alexsandra C Malaquias

TLDR

  • A rare case of Noonan syndrome patient developing dysembryoplastic neuroepithelial tumor and Hodgkin's lymphoma, highlighting the complexity of tumor development in NS patients.

Abstract

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.

Overview

  • The study presents a rare case of Noonan syndrome (NS) patient developing dysembryoplastic neuroepithelial tumor (DNET) and Hodgkin's lymphoma.
  • The patient had a pathogenic variant in the PTPN11 gene and was receiving recombinant human growth hormone (rhGH) therapy before tumor diagnosis.
  • The study highlights the variability in genetic mutations and clinical presentations in NS patients, emphasizing the importance of individualized surveillance strategies.

Comparative Analysis & Findings

  • This is the first reported case of DNET and Hodgkin's lymphoma co-occurrence in NS patients.
  • The patient's pathogenic variant in the PTPN11 gene did not have a specific association with a particular tumor predisposition.
  • The study suggests that rhGH therapy may be a contributing factor to tumor development, but further research is needed to confirm this hypothesis.

Implications and Future Directions

  • The study emphasizes the need for individualized surveillance strategies, particularly in NS patients undergoing rhGH therapy.
  • Further studies are required to clarify the oncogenic potential of specific NS-associated mutations and establish evidence-based guidelines for cancer surveillance in these patients.
  • The study's findings highlight the complex relationship between NS and tumor development, emphasizing the importance of comprehensive genetic analysis and monitoring in NS patients.
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