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Is IGSF1 involved in human pituitary tumor formation?
Fabio R Faucz1, Anelia D Horvath2, Monalisa F Azevedo2
1Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892, USAGroup for Advanced Molecular InvestigationGraduate Program in Health Science, Medical School, Pontificia Universidade Catolica do Paraná, Curitiba 80215, BrazilDepartment of Pharmacology and TherapeuticsMcGill University, Montréal, Québec, Canada H3G 1Y6Pediatric Endocrinology Inter-institute Training ProgramEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland 20892, USAThe Liggins InstituteUniversity of Auckland, Auckland 1023, New ZealandTaranaki Base HospitalNew Plymouth 4310, New ZealandAuckland City Hospital & Greenlane Clinical CentreAuckland 1142, New ZealandDepartment of NeurosurgeryUniversity of Virginia Health Sciences Center, University of Virginia, Charlottesville, Virginia 22904, USASurgical Neurology BranchNational Institute for Neurological Diseases and Stroke (NINDS), National Institutes of Health, Bethesda, Maryland 20892, USA Departments ofEndocrinology and Metabolic DisordersPediatricsLeiden University Medical Center, Leiden 2333, The Netherlands Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892, USAGroup for Advanced Molecular InvestigationGraduate Program in Health Science, Medical School, Pontificia Universidade Catolica do Paraná, Curitiba 80215, BrazilDepartment of Pharmacology and TherapeuticsMcGill University, Montréal, Québec, Canada H3G 1Y6Pediatric
IGSF1 gene variants may influence pituitary tumor development, particularly growth hormone-producing tumors. Further research is needed to understand IGSF1
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- IGSF1 (Immune Globulin Superfamily 1) is a pituitary glycoprotein.
- Mutations in IGSF1 cause X-linked central hypothyroidism and testicular enlargement.
- The role of IGSF1 in pituitary tumor development is unknown.
Purpose of the Study:
- To investigate the potential involvement of IGSF1 in pituitary tumor formation.
- To examine the association between IGSF1 gene variants and growth hormone (GH)-producing pituitary tumors.
Main Methods:
- Sequencing of the IGSF1 gene in patients with gigantism/acromegaly and healthy controls.
- In silico analysis of identified IGSF1 variants.
- Immunohistochemistry for IGSF1 expression in pituitary tumors and normal pituitary tissue.
Main Results:
- A potentially pathogenic IGSF1 variant (p.N604T) was identified in patients with somatomammotroph hyperplasia and gigantism.
- This variant was also found in healthy controls, indicating IGSF1 gene polymorphism.
- Increased IGSF1 staining was observed in a GH-producing tumor from a patient with the p.N604T variant.
Conclusions:
- IGSF1 gene variations may play a role in pituitary adenoma development.
- Further studies are required to elucidate the specific mechanisms of IGSF1 in pituitary tumorigenesis.
- The polymorphic nature of IGSF1 warrants careful interpretation of its variants in disease association studies.
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