A concurrent episode of two neoplasms in a toddler-age child
A 21-month-old Hispanic girl presented to the emergency room with 10 days history of progressing left periorbital swelling. She was initially treated with antibiotics without improvement. The patient did not have any fever, vomiting, cough, eye discharge or sick contact.\nOn examination, she had swelling with proptosis at the left eye without erythema. There was a localized mass that was palpable, restricting the movement of the left eye. Incidentally, the patient found to have pubic hair Tanner stage III but no breast buds or clitoral hypertrophy. The remaining physical exam was unremarkable. There was a significant past medical history of a third-line family member with a diagnosis of uterine cancer at the age of 40 years and a second-line family member with a history of recurrent thyroid nodules.\nInitial laboratory work up including complete blood count, basic metabolic panel, and liver function test were all normal. Computed tomography (CT) scan of the head revealed a single left orbital mass that has retro-orbital and postseptal extension. This mass measured 2.5 × 3.5 × 1 cm and was not associated with focal bone erosion or invasion to the optic nerve [].\nBecause the patient had evidence of precocious puberty, the differential diagnosis at this point was broadened to include rhabdomyosarcoma, neuroblastoma, germ cell tumor or concurrent episode of childhood neoplasms. The patient subsequently underwent further evaluation with whole body positron emission tomography (PET) scan that showed another mass (6 × 6 cm) in the left suprarenal area []. Bone scan, bone marrow biopsy, and urine catecholamine were all negative.\nDue to concern of adrenarche, the patient had endocrine work up that showed advanced bone age with significantly elevated dehydroepiandrosterone sulfate (DHEAS).\nThe previous finding raised the possibility that those two masses might be two different tumor entities. She underwent a subtotal surgical resection of the left retro-orbital lesion (about 75% of the tumor burden) and total surgical resection of the adrenal mass.\nThe pathologic evaluation of those masses revealed embryonal rhabdomyosarcoma from the orbital mass and a benign adrenocortical tumor (ACT) from the adrenal mass.\nThe diagnosis of LFS was suspected based on having two tumors that belong to LFS tumors spectrum that occurred before the age of 46 years. Genetic testing for TP53 mutation from peripheral blood revealed heterozygous change on the nucleotide-coding sequence c. 818G >A, which is a missense mutation in TP53 gene.