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Novel Approaches in Cancer Study

Next Generation Sequencing in Diagnosis of Reed’s Syndrome, or Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Submission: July 07, 2018; Published: August 17, 2018

DOI: 10.31031/NACS.2018.02.000528

Volume2 Issue1


A 40-year-old woman with a past medical history of myomatosis and dysmenorrhea, who presented to her primary care physician with various complaints such as shortness of breath and fatigue, was found to have a large left renal mass. In April, 2014, she underwent a total left nephrectomy with removal of 13 lymph nodes, and pathology confirmed papillary renal cell carcinoma. One year later, she had recurrence of her disease in the subligamentary space attached to T12, which was also surgically removed in November, 2015. Although she showed all three classic symptoms of hereditary leiomyomatosis and renal cell cancer (HLRCC), which include cutaneous and uterine leiomyomas and papillary renal cell cancer, she remained undiagnosed for 20 months after her initial renal cancer diagnosis. Genetic testing, including next generation sequencing, was performed on the tumor, and the results were consistent with HLRCC. After starting treatment with bevacizumab and erlotinib in December, 2015, she has remained free of disease.

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