Atypical Histologic Type of Ovarian Cancer and Cowden Syndrome
Posted: Thursday, February 14, 2019
In the JNCCN–Journal of the National Comprehensive Cancer Network, Kevin Yauy, MD, of the Université de Montpellier, France, and colleagues presented a case study of a patient diagnosed with epithelial ovarian cancer (clear cell carcinoma subtype) associated with Cowden syndrome, an autosomal-dominant mendelian disease affecting the PTEN gene. This rare co-occurrence led to a major change in the therapeutic outcome for this patient.
“This observation might be the first indication of the need to expand the PTEN-related tumor spectrum to incorporate ovarian clear cell carcinoma,” shared the authors. This case report “highlights the high medical relevance and clinical utility of the multigene sequencing panel strategy, including PTEN sequencing.”
The case study centered on a woman diagnosed with ovarian clear cell carcinoma at 28 years of age. She also exhibited symptoms consistent with Cowden syndrome, which include macrocephaly, trichilemmomas, oral papillomatosis, and acral keratosis. Cowden syndrome is characterized by an elevated risk of breast and thyroid cancers, and the patient had a family history of cancers within the PTEN-related tumor spectrum. In addition, the patient was diagnosed with thyroid follicular neoplasia following a positron-emission tomography scan and fine-needle biopsy.
Although somatic mismatch-repair immunohistochemistry analysis indicated normal expression, a similar analysis of ovarian cells revealed a total loss of PTEN expression. This loss, when considered with both the patient’s germline PTEN mutation and early development of ovarian clear cell carcinoma, strongly suggested PTEN as a factor in oncogenesis. For this reason, the patient underwent a complete thyroid resection instead of a partial lobectomy. A proactive bilateral mastectomy was also considered.
Disclosure: The study authors’ disclosure information may be found at jnccn.org.