Medulloblastoma in a child with osteoma cutis – a rare association due to loss of GNAS expression
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Jananie Suntharesan
,
Ekaterina Lyulcheva-Bennett
,
Rachel Hart
Abstract
Objectives
Inactivating GNAS mutations result in varied phenotypes depending on parental origin. Maternally inherited mutations typically lead to hormone resistance and Albright's hereditary osteodystrophy (AHO), characterised by short stature, round facies, brachydactyly and subcutaneous ossifications. Paternal inheritance presents with features of AHO or ectopic ossification without hormone resistance. This report describes the case of a child with osteoma cutis and medulloblastoma. The objective of this report is to highlight the emerging association between inactivating germline GNAS mutations and medulloblastoma, aiming to shed light on its implications for tumor biology and promote future development of targeted surveillance strategies to improve outcomes in paediatric patients with these mutations.
Case presentation
A 12-month-old boy presented with multiple plaque-like skin lesions. Biopsy confirmed osteoma cutis, prompting genetic testing which confirmed a heterozygous inactivating GNAS mutation. At 2.5 years of age, he developed neurological symptoms and was diagnosed with a desmoplastic nodular medulloblastoma, SHH molecular group, confirmed by MRI and histology. Further analysis indicated a biallelic loss of GNAS in the tumor.
Conclusions
This case provides important insights into the role of GNAS as a tumor suppressor and the emerging association between inactivating GNAS variants and the development of medulloblastoma. The case underscores the importance of careful neurological assessment and ongoing vigilance in children with known inactivating GNAS variants or associated phenotypes. Further work to establish genotype–phenotype correlations is needed to inform optimal management of these patients.
Acknowledgments
We thank the patient and parents for providing clinical details and consenting for the case publication.
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Research ethics: It is a case case presentation. Therefore research ethics not obtained.
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Informed consent: Informed consent was obtained from the parents.
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Author contributions: Authors have accepted responsibility for the entire content of this manuscript and approved its submission. JS and KB equally contributed to write the manuscript. RH, BP, JH, and RR involved in the patient clinical management and contributed to complete the manuscript. RR is the lead consultant coordinated and helped to improve the manuscript.
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Competing interests: Authors state no conflict of interest.
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Research funding: None declared.
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Data availability: Not applicable.
References
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Articles in the same Issue
- Frontmatter
- Review
- Tackling access and payer barriers for growth hormone therapy in Saudi Arabia: a consensus statement for the Saudi Working Group for Pediatric Endocrinology
- Original Articles
- Does an episode of diabetic ketoacidosis affect thyroid function tests in pediatric patients?
- Association between proinflammatory cytokines and arterial stiffness in type 1 diabetic adolescents
- Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy
- Diurnal 11-ketotestosterone and 17-hydroxyprogesterone saliva profiles in paediatric classical congenital adrenal hyperplasia
- Growth after pediatric kidney transplantation: a 25-year study in a pediatric kidney transplant center
- Long term clinical follow up of four patients with Wolfram syndrome and urodynamic abnormalities
- Evaluation of copeptin in children after stimulation with clonidine or L-Dopa
- Examination of quality of life and psychiatric symptoms in childhood Graves’ disease
- Timing of onset of menses after GnRH agonist treatment for central precocious puberty
- Implementation of the Mind Youth Questionnaire (MY-Q) for routine health-related quality of life screening of adolescents with type 1 diabetes in a large tertiary care center
- Case Reports
- Medulloblastoma in a child with osteoma cutis – a rare association due to loss of GNAS expression
- Ectopic lingual thyroid with subclinical hypothyroidism in children
- Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus
- A 14-year-old girl with premature ovarian insufficiency but with a positive pregnancy test
