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CDC73 Germline Mutation in a Family With Mixed Epithelial and Stromal Tumors
Cathy D Vocke1, Christopher J Ricketts1, Mark W Ball1
1Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Objective:
To describe a family in which 3 members presented with mixed epithelial tumor of the kidney (MEST) and were found to possess a germline mutation in CDC73, a gene which is associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT).
Materials And Methods:
Blood and tumor DNA from three family members who presented with a primary diagnosis of MEST was subjected to targeted gene sequencing to identify potential genetic components.
Results:
A germline start codon mutation (p.M1I) in CDC73 was identified in all 3 family members who presented with MEST and 2 tumors from 1 patient demonstrated somatic copy-neutral loss of heterozygosity. Patients presented with no evidence of hyperparathyroidism or jaw tumors, but both female patients had hysterectomies at an early age due to excessive bleeding and numerous fibroids, which is common in HPT-JT. A germline p.M1I mutation has been previously reported in a family with clinical features of HPT-JT.
Conclusion:
Patients with MEST may be at risk for HPT-JT and CDC73 germline mutation testing of MEST patients should be considered.
Insights
Three family members with kidney tumors (MEST) had a CDC73 gene mutation, linking MEST to hyperparathyroidism-jaw tumor syndrome (HPT-JT). Genetic testing for CDC73 is recommended for MEST patients.
Area of Science:
- Nephrology
- Genetics
- Oncology
Background:
- Mixed epithelial tumor of the kidney (MEST) is a rare renal neoplasm.
- Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disorder characterized by parathyroid adenomas, jaw tumors, and kidney tumors.
Purpose of the Study:
- To investigate the genetic basis of MEST in a family with multiple affected members.
- To determine if a germline mutation in the CDC73 gene is associated with MEST.
Main Methods:
- Targeted gene sequencing of blood and tumor DNA from three family members diagnosed with MEST.
- Analysis of germline and somatic mutations in the CDC73 gene.
Main Results:
- A germline start codon mutation (p.M1I) in the CDC73 gene was identified in all three MEST patients.
- Somatic copy-neutral loss of heterozygosity was observed in tumors from one patient.
- While hyperparathyroidism and jaw tumors were absent, clinical features suggestive of HPT-JT, such as early hysterectomies due to excessive bleeding and fibroids, were noted in female patients.
Conclusions:
- MEST may be associated with an increased risk of HPT-JT.
- Germline mutation testing of the CDC73 gene should be considered for patients diagnosed with MEST.
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