FRI193 Early Presentation Of Pediatric Oncocytic Adrenal Tumor Associated With Germline TP53 Pathogenic Variant—Report Of Three Cases

Abstract

Abstract Disclosure: R.R. Oppenheimer: None. L.P. Lins: None. C.P. Oliveira: None. I.P. Magalhaes: None. A. Latronico: None. B.B. Mendonca: None. M.Q. Almeida: None. A.W. Kuhn: None. H. Charchar: None. M.C. Fragoso: None. Oncocytic adrenal tumors (OAT) are uncommon and usually nonfunctional. In the pediatric age group, OAT are extremely rare and less than 20 cases have been reported. Herein we report the clinical presentation and follow up of 3 non-related children with Li-Fraumeni syndrome with a germline TP53 pathogenic variant (PV) (p.R337H) who developed secreting OAT. Case 1. A 19 month old male presented with moon face, weight gain, irritability and pubic hair (Tanner stage P3) for over 4 months. He had no family history of neoplasms and his parents were unrelated to each other. Hormonal data revealed serum cortisol 33 mcg/dL with a suppressed ACTH. Testosterone was elevated (242 ng/dL - RR <12 ng/dL) with low plasma gonadotropins. Androstenedione 3,08 (RR<0,5ng/mL). Abdominal CT revealed a left adrenal tumor (5.0 x 4.4 x 4.0cm). He underwent a left laparoscopic adrenalectomy and histopathologic analysis confirmed OAT Wieneke score 2/9. Immunohistochemistry was positive for inhibin, p53 and Ki67 (10-15%). The postoperative clinical course was uneventful. The TP53 p.R337H PV was inherited from his father. He is now prepubertal and there is no evidence of relapse in 14 months of monitoring. Case 2. An 18 month old female presented with acne, clitoromegaly, pubic hair (Tanner stage 2), axillary odor, axillary hair and weight gain. Hormonal study showed elevated total testosterone of 624.7 ng/dL, androstenedione, DHEA-S and prepubertal gonadotropins. 17OHP and cortisol were normal. Abdominal CT confirmed a heterogeneous solid nodule of 5.5 x 4.5 x 3.7 cm in the right adrenal topography. The patient underwent a right adrenalectomy and OAT was identified by histopathology (Wieneke score 3/9). Immunohistochemistry was positive for p53, inhibin and Ki67 (30%). The TP53 p.R337H PV was inherited from her mother. She had remission of secondary sexual characteristics and he is now prepubertal. Case 3. A 2 years and 8 months old girl was referred with precocious pubarche and clitoromegaly (2,6cm). She had a right flank palpable mass and tanner 1 breasts. Hormonal studies showed elevated testosterone (70ng/dL), androstenedione (3.81ng/mL) and DHEA-S (13490ng/mL), with LH 0.3IU/L and FSH 3.4IU/L. The cortisol after DST was 5.8mcg/dL and ACTH was suppressed. Abdominal MRI revealed a 5 cm tumor at the right adrenal gland. She underwent laparoscopic adrenalectomy. The histopathologic analysis revealed an OAT Wieneke score 1/9. Immunohistochemistry was positive for p53 and Ki67 (13%). The TP53 p.R337H PV was inherited from her father. Conclusion: Although rare, functional OATs have been reported in children. Herein we describe the first patients with the TP53 p.R337H PV to present with OATs. These are the youngest cases of OAT published so far. The clinical presentation, hormonal data and follow-up were not different from those of other pediatric adrenal tumors. So far there is no evidence of disease relapse during follow-up. Presentation: Friday, June 16, 2023