ESPE Abstracts

Introduction: Nephroblastoma or Wilms tumor is the most common pediatric abdominal malignancy. Typically, it is found in children younger than 5 years old, girls being more likely to have Wilms tumor than boys. The etiology of the disease is genetic, due to alteration in the development of the genitourinary tract.[1] Treatment is represented by surgery (unilateral nephrectomy), chemo- and radio-therapy. Paraneoplastic endocrine disorders may occur, but there are few data about the association of central precocious puberty (CPP) and nephroblastoma [2].

Case report: We report a case of a 7-year-old Caucasian girl with a history of nephroblastoma that was admitted in our pediatric endocrinology department for the evaluation of premature thelarche. She was diagnosed at the age of 3 with stage 3 Wilms tumor, underwent surgery, followed by systemic chemotherapy (vincristine/dactinomycin and doxorubicin) and local radiotherapy (total dose 10.8 Gy). The family history was positive for pulmonary and gastrointestinal cancers. At the admission in our clinic the patient was pubertal (B3 Tanner stage), she had advanced bone age (+1 SD) with prepubertal LH and E2 serum levels (LH=0.67 UI/l, estradiol=29.5 pg/ml). We identified an accelerated linear growth (height velocity 19 cm in 13 months), with a height at presentation of 133.4 cm (+1.96 SD, +0.89 SD for bone age). A gonadotropin-releasing hormone analog (GnRHa) stimulation test was performed and it showed a pubertal response (LH=16.3 UI/l, estradiol=377 pg/ml). Lab tests revealed a mildly raised IGF-1 (376.1 ng/ml, normal values: 24-293), with normal thyroid function test and human chorionic gonadotropin (hCG) serum levels. Pelvic ultrasonography showed a pyriform shaped uterus with visible endometrium and the ovaries presented 7, respectively 10 follicles. Thoracic CT scan identified a 2 mm pulmonary nodule, unmodified from the previous imaging. Treatment with GnRHa 3.75 mg, 1 subcutaneous administration at 26 days was recommended along with magnetic resonance imaging of the suprasellar region and oncologic reevaluation.

Conclusion: Central precocious puberty is an unusual paraneoplastic manifestation of a nephroblastoma secondary to its specific treatment or the disease itself. We strongly recommend multidisciplinary medical teams (oncologist, endocrinologist, radiologist, surgeon) in the management of children with cancers.

[1] Stephen W. Leslie, Hussain Sajjad, Patrick B. Murphy, “Wilms tumor”, https://www.ncbi.nlm.nih.gov/books/NBK442004/

[2] Laura Kasongo, Patricia Forget and Ramona Corina Nicolescu, “Coincidental Central Precocious Puberty and Wilms tumor in a 5-year-old girl”, https://doi.org/10.1155/2019/5427207