Decoding Small Cell Carcinoma of the Ovary, Hypercalcemic Type: A Comprehensive Guide to Genetic Testing

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and aggressive form of ovarian cancer that predominantly affects young women. This article aims to provide an in-depth understanding of SCCOHT, its diagnosis, and the role of genetic testing in managing the disease. We will explore the latest research findings and clinical data to help shed light on this lesser-known condition.

Understanding Small Cell Carcinoma of the Ovary, Hypercalcemic Type

SCCOHT is a rare and aggressive form of ovarian cancer that primarily affects young women, with a median age of onset around 24 years (source). The disease is characterized by a deficiency in the SMARCA4 gene, which plays a crucial role in the development and progression of the cancer. SCCOHT is often associated with high levels of calcium in the blood, which can lead to various symptoms and complications.

Diagnosing Small Cell Carcinoma of the Ovary, Hypercalcemic Type

Diagnosing SCCOHT can be challenging due to its rarity and the nonspecific symptoms it presents. A recent population-based study analyzed seven cases of SCCOHT in the Slovenian population over a 30-year period, highlighting the importance of histopathologic and clinical data in diagnosing the condition (source). Imaging techniques, such as computed tomography (CT) and magnetic resonance imaging (MRI), can also be helpful in identifying the disease and determining its stage (source).

The Role of Genetic Testing in Small Cell Carcinoma of the Ovary, Hypercalcemic Type

Genetic testing plays a crucial role in understanding, diagnosing, and managing SCCOHT. In this section, we will explore the various uses of genetic testing in the context of this rare disease.

Identifying Germline and Somatic SMARCA4 Mutations

Research has revealed that both germline (inherited) and somatic (acquired) mutations in the SMARCA4 gene characterize SCCOHT (source). Genetic testing can help identify these mutations, which can provide valuable information for diagnosis and treatment planning. Identifying a germline mutation may also have implications for family members, as they may be at increased risk of developing SCCOHT or other related conditions.

Guiding Treatment Decisions

Genetic testing can help guide treatment decisions for patients with SCCOHT. For example, identifying specific mutations in the SMARCA4 gene may help determine the most effective treatment options, such as targeted therapies or immunotherapies. Additionally, genetic testing can help monitor treatment response and detect any changes in the tumor’s genetic makeup, allowing for adjustments in treatment strategies as needed.

Assessing Prognosis and Recurrence Risk

Genetic testing can also provide valuable information about a patient’s prognosis and the risk of disease recurrence. For example, the presence of certain SMARCA4 mutations may be associated with a more aggressive form of the disease or a higher risk of recurrence. This information can help guide follow-up care and surveillance strategies for patients with SCCOHT.

Informing Family Members and Genetic Counseling

If a germline SMARCA4 mutation is identified in a patient with SCCOHT, it is essential to inform family members of their potential risk for the disease and related conditions. Genetic counseling can help individuals understand their risk, explore options for genetic testing, and make informed decisions about their health and family planning.

Conclusion

Small cell carcinoma of the ovary, hypercalcemic type is a rare and aggressive form of ovarian cancer that predominantly affects young women. Genetic testing plays a crucial role in understanding, diagnosing, and managing this disease, helping to identify SMARCA4 mutations, guide treatment decisions, assess prognosis and recurrence risk, and inform family members about potential risks. As research and knowledge about SCCOHT continue to grow, genetic testing will remain an essential tool in the fight against this rare and devastating disease.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)