Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations

Ślężak, Ryszard; Łuczak, Klaudiusz; Kalscheuer, Vera M.; Neumann, Thomas; Sasiadek, Maria M.

doi:10.1097/mcd.0b013e3283375886

Cited by 8 publications

(5 citation statements)

References 7 publications

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“…This retrospective case series describes the safety and efficacy of denosumab treatment in four children (3,17,8, and 13 years old) with NL/MGCLs of the jaw. The diagnosis of Noonan syndrome was based on clinical phenotype in three of the patients, whereas one patient was recognized only after genetic testing for MGCLs.…”

Section: Case Descriptionmentioning

confidence: 99%

“…The underlying genetic mutations and sequelae distinguish the two. Mutations in PTPN11 ( 5 , 6 ) and SOS1 ( 2 , 7 , 8 ) have been reported in people with NL/MGCLS, whereas mutations in SH3BP2 are associated with cherubism ( 9 ). Giant cell lesions in cherubism tend to spontaneously resolve, whereas those observed in NL/MGCLS can have aggressive signs and symptoms ( 10 – 12 ).…”

Section: Introductionmentioning

confidence: 99%

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Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw

et al. 2020

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Noonan syndrome is a genetic disorder caused by mutations in the RAS/MAPK pathway. Multiple giant cell lesions are a rare sequelae of disruptions in this pathway, termed Noonan-like multiple giant cell lesions (NL/MGCLs). Medical management of these tumors rather than surgical intervention is preferential as the lesions are benign but locally destructive and recurring. This case series describes four male pediatric patients with Noonan syndrome and multiple giant cell lesions of the jaw treated with denosumab, a monoclonal antibody to receptor activator of nuclear factor kappa B ligand (RANKL), which has been approved for the treatment of malignant giant cell tumors in adults but not evaluated for safety or efficacy in children. All four pediatric patients responded clinically and radiographically to the treatment. Adverse events occurred in a predictable pattern and included hypocalcemia and joint pain during the initiation of treatment and symptomatic hypercalcemia after the cessation of treatment. Growth was not significantly impaired in these skeletally immature patients. This case series demonstrates how a weight-adjusted denosumab dose can effectively treat NL/MGCLs and provides laboratory data for consideration of the timing of monitoring for known side effects.

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Section: Case Descriptionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw

et al. 2020

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“…In another three cases NF1 and CGCG coexisted with NS, while multiple CGCG were reported in 29 patients with NS phenotype in the so called “Noonan‐like/multiple giant cell lesions”. NS is a multisystem disease whose clinical features show considerable variability and overlap with those of other “Rasopathies”.…”

Section: Discussionmentioning

confidence: 99%

Multiple osteolytic lesions of the jaws in a patient with neurofibromatosis type I. A case report and focused literature review

2018

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We describe the case of a patient diagnosed with neurofibromatosis type 1 (NF1) where unusually extensive and multiple osteolytic lesions of both jaws consistent with central giant cell granulomas (CGCG) caused massive bone destruction and left her almost "jawless." The patient was a 58-year-old woman who at the age of 15 years was diagnosed with NF1 and at the age of 53 years underwent radiation therapy for nasal obstruction due to CGCG. The most significant intraoral findings were brown tumors on the maxillary gingiva; bilateral expansion of the hard palate; and a yellow mass on the floor of the mouth. Head and neck examination revealed mandibular asymmetry and features consistent with NF1. Panoramic radiograph and cone beam computed tomography disclosed multiple radiolucent masses. Although the occurrence of multiple CGCG of the jaws in patients with NF1 is rare, early diagnosis, regular follow-up and proper therapeutic intervention may limit the extent of bone destruction.

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“…Cherubism may be associated with genetic diseases such as Ramon's syndrome, Jafe Campanacci syndrome, Fragile X syndrome, Neurofibromatosis, and Noonan's syndrome. [ 9 10 11 12 13 14 ] Only one case of cherubism associated with bilateral optic atrophy and short stature had been reported in the literature. [ 15 ] Cherubism associated with optic atrophy and short stature is listed as rare disease by the Office of Rare Diseases of the National Institutes of Health.…”

Section: Discussionmentioning

confidence: 99%

Orphan disease: Cherubism, optic atrophy, and short stature

Jeevanandham

Ramachandran

Dhanapal

et al. 2018

Indian Journal of Radiology and Imaging

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A 12-year-old female presented with complaints of progressive visual impairment in both her eyes. On clinical examination, she was short for her age and her ophthalmoscopic examination revealed bilateral optic atrophy. Computed tomography of the patient revealed multiple expansile lytic lesions of mandible suggesting cherubism. The optic atrophy was confirmed on magnetic resonance imaging, which additionally revealed bilateral retrocerebellar arachnoid cysts. This association of cherubism with optic atrophy and short stature was grouped as orphan disease by National Institutes of Health and only one case was reported in the literature so far.

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Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations

Cited by 8 publications

References 7 publications

Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw

Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw

Multiple osteolytic lesions of the jaws in a patient with neurofibromatosis type I. A case report and focused literature review

Orphan disease: Cherubism, optic atrophy, and short stature

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