Second Case of Tumors Associated With Heterozygous NTHL1 Variant

Homozygous mutations to NTHL1 are known to increase cancer risk, particularly in the colon and breast. NTHL1 tumor syndrome (NTS) is an autosomal recessive genetic condition. Little is known about the cancer risk in patients who have heterozygous NTHL1 mutations. We previously published a case of be...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2022-07, Vol.14 (7)
Main Authors: Anderson, Danyon J, Reinicke, Trenton, Boyle, Andrew W, Porwal, Mokshal H, Friedman, Allan H
Format: Article
Language:English
Subjects:
Biopsy
Brain cancer
Brain research
Breast cancer
Case reports
Colonoscopy
Colorectal cancer
Emergency medical care
Gastrointestinal cancer
Genetics
Hemangioma
Hydrocephalus
Mammography
Mutation
Neurosurgery
Oncology
Ostomy
Pathology
Patients
Surveillance
Thyroid cancer
Tumorigenesis
Tumors
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Summary:Homozygous mutations to NTHL1 are known to increase cancer risk, particularly in the colon and breast. NTHL1 tumor syndrome (NTS) is an autosomal recessive genetic condition. Little is known about the cancer risk in patients who have heterozygous NTHL1 mutations. We previously published a case of benign tumors associated with a heterozygous NTHL1 mutation. In this second case, we present a patient with a heterozygous NTHL1 mutation who developed a gastrointestinal stromal tumor, pilocytic astrocytoma, tall cell papillary thyroid cancer, invasive ductal papilloma, spinal nerve sheath tumors, and spinal hemangiomas. Here, we show that heterozygous NTHL1 mutations may increase cancer risk and may even manifest similarly to NTS.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.26734