Recurrent ganglioneuroma in PTPN11‐associated Noonan syndrome: A case report and literature review. Issue 6 (29th March 2021)

• Record Type: Journal Article
• Authors: Morales‐Rosado, Joel A.; Singh, Herchran; Olson, Rory J.; Larsen, Brandon T.; Hager, Megan M.; Klee, Eric W.; Dhamija, Radhika
• Is Part Of: American journal of medical genetics. Volume 185:Issue 6(2021)
• Page Start: 1883
• Page End: 1887
• Publication Date: 2021-03-29
• Subjects: ganglioneuroma -- neoplasia -- Noonan -- PTPN11; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62178
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Noonan syndrome (NS) is an autosomal dominant condition with variable expressivity most commonly due to a germline pathogenic variant in PTPN11, which encodes the protein tyrosine phosphatase SHP‐2. Gain‐of‐function variants in PTPN11 are known to promote oncogenic behavior in affected tissues. We report the clinical description of a young adult male presenting with relapsing ganglioneuromas, dysmorphic features, cardiac abnormalities, and multiple lentigines, strongly suspicious for NS. Solid tumor testing identified the recurrent pathogenic c.922G>A (p.Asn308Asp) in PTPN11 . Proband and parental blood sampling testing confirmed c.922G>A as a de novo germline alteration. Comprehensive literature review of solid tumors specifically associated to PTPN11, indicates that this is the first documentation of ganglioneuroma and its clinical recurrence after resection in conjunction with a genetically confirmed NS diagnosis. The findings in our patient further extend the list of neuroblastic and neural crest‐derived neoplasms associated with this condition.