ESPE Abstracts (2019) 92 P1-245

PTEN Hamartoma Tumor Syndrome (Overlap of Cowden syndrome and the Bannayan-Riley-Ruvalcaba Syndrome): Case Report

Hayrullah Manyas1, Gönül Çatlı2, Berna Eroğlu Filibeli1, İlkay Ayrancı1, Taha Reşid Özdemir3, Bumin Nuri Dündar 2


1Health Sciences University Tepecik Training and Research Hospital, Pediatric Endocrinology Clinic, İzmir, Turkey. 2İzmir Katip Çelebi University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey. 3Health Sciences University Tepecik Training and Research Hospital, Genetic Diseases Diagnostic Center, İzmir, Turkey


Introduction: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare disease with dominant inheritance characterized by benign (hamartoma) and malignant tumors (breast, endometrium, thyroid). Mutations in the tumor suppressor gene phosphatase and tensin homologue (PTEN) gene are responsible for the etiology.

Objective: In this case report, we present an 11-year-old male who was being monitored due to follicular thyroid cancer, and was diagnosed as PHTS due to accompanying macrocephalus, arteriovenous malformation (hemangioma), hyperpigmented macules on the glans penile and papules on the skin.

Case: The 11-year-old male patient was being followed in our clinic due to follicular thyroid cancer. There was no consanguinity between his parents and no similar medical history in the family. He was investigated due to macrocephaly in antenatal period but the etiology could not be determined. Increasing diameter of thyroid nodule was detected and right lobectomy was performed due to compatible result of the fine needle aspiration biopsy with follicular neoplasms at the age of seven. L-thyroxine treatment was started in the postoperative period because of subclinical hypothyroidism. At the age of nine, magnetic resonance imaging revealed a mass lesion in the thigh (14x6,5cm). The mass removed surgically and pathology was reported as arterio-venous malformation (hemangioma). On physical examination, weight was 39 kg (-0.39 SDS), height was 151 cm (0.35 SDS), head circumference was 60 cm (3.74 SDS) and puberty was consistent with Tanner stage 3. Papules on face, mass lesion (vascular anomaly) of approximately 10x7 cm on the left hip, hyperpigmented macules on the glans penis were observed. Autism findings were not described in the patient whose mental development was usual. The patient had no hyperextensibility and loss of muscle strength. In terms of scoliosis, spine radiography revealed dextroscoliosis. In the clinical observation (11 years of age), multiple nodules (multinodular goiter) were detected in the left thyroid lobe. Molecular genetic analysis for PHTS with the present findings detected c.388C> T heterozygous pathogenic variant in the PTEN gene. Because of the early diagnosis and macular lesion in penis, the patient was concordant to BRRS syndrome; and was overlapped with CS because of thyroid malignancy.

Conclusion: PHTS is rare and its subtypes may not be differentiated. In this report, the 11-year-old patient whose clinical findings concordant with CS and BRRS, was pointed out. PHTS requires multidisciplinary monitoring and approach in terms of endocrine and non-endocrine pathologies.

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