RARE-16. SEVEN CASES OF RETINOBLASTOMA WITH CNS INVOLVEMENTS

Treatment strategy for trilateral retinoblastoma (TRb: very rare RB with brain tumor) or retinoblastoma with central nervous system (CNS) involvement is not established yet. We retrospectively reviewed our seven cases of these rare almost fatal tumors. Their ages at diagnosis are 0y3m-1y10m (median 1y3m) (Male 4, Female 3). Only one had RB family history. Their affected eyes were bilateral 3, unilateral 3 and no 1. Their CNS involvements were suprasellar tumor 4, pineal tumor 1 and cerebrospinal fluid (CSF) cytology positive 2. Three of the suprasellar tumor patients had spinal metastasis. Four of the seven patients were TRb and one were genetically classified suprasellar retinoblastoma. All of them were treated with chemotherapy and four received high-dose chemotherapy. Three brain tumors of four TRb almost disappeared with chemotherapy. Two of them also received radiotherapy but relapsed. Although one radiation-free long-term TRb survivor developed secondary osteosarcoma, he got remission again and live 5 more years. One CSF positive Rb patient with chiasm invasion died of disease 11 months later. The other patient had no chiasm invasion nor CSF involvement at diagnosis, but his CSF cytology turned to positive after his second cycle of chemotherapy. He got remission with radiotherapy and high-dose chemotherapy, and alive without disease for 4 years. 2-year RFS and 2-year OS of all patients were 40% and 60%. Although our TRb patients responded to chemotherapy, it was difficult to avoid radiotherapy except one. Data accumulation is necessary for better treatment of these cancer-predisposed patients.

LINC-36. TRILATERAL RETINOBLASTOMA: A REPORT OF FOUR CASES

Retinoblastoma is the most common primary malignant intraocular cancer that usually develops in early childhood. About 5% of those patients are at risk of developing trilateral retinoblastoma (TRB). In developing countries, most of them came in the late stage; therefore, ocular and patient survival rates are lower than in developed countries. From 2015–2019, we found four cases of trilateral retinoblastoma. Two of them had bilateral retinoblastoma, and two had unilateral retinoblastoma. They all presented with leukocoria and had no family history of retinoblastoma. The mean age was 13.8 months (range 9–24 months of age). The diagnosis of trilateral retinoblastoma was made from initial head CT/MRI. They were treated conservatively with high dose VEC chemotherapy, and three of them have died during treatment. Trilateral retinoblastoma is usually fatal and needs multidisciplinary treatment care. In developing countries, it is important to evaluate distant metastasis. Head CT or MRI from the initial diagnosis to exclude the trilateral retinoblastoma.

Serial Case : Unilateral Dan Trilateral Retinoblastoma

LATAR BELAKANG Retinoblastoma adalah tumor intraocular pada anak. Insidensi diperkirakan 1 dalam 15.000 pada 34.000 kelahiran. Retinoblastoma trilateral merupakan kombinasi yang jarang dari unilateral atau bilateral retinoblastoma dengan neoplasma intrakranial neuroblastik, biasanya ditemukan di daerah pineal atau daerah suprasellar. Dalam kasus retinoblastoma trilateral , prognosisnya buruk dengan tingkat kelangsugan hidup antara 9 sampai 13 bulan setelah diagnosis. LAPORAN KASUS Kasus 1, anak laki-laki berusia 1 tahun dengan keluhan leukokoria mata kanan, proptosis, kemerahan, kelopak mata bengkak dan juga memiliki riwayat perdarahan di mata kanan. Pemeriksaan CT scan menunjukkan lesi padat dengan kalsifikasi pada aspek posterior mata kiri (AP 1,32 x LL 1,72 x CC 0,7 cm). Kontras CT mata kanan menunjukkan massa jaringan lunak dengan kalsifikasi (AP 3,57 x LL 3,1 x CC 3,1 cm), meluas ke retrobulbar, saraf optik menebal dan massa parasellar yang enhance(AP 2,6 x LL 2,5 x CC 2,2 cm) Kasus 2, anak laki-laki berusia 2 tahun dengan keluhan mata kanan tampak plak putih yang semakin melebar. Pada pemeriksaan CT scan menunjukan lesi pada inhomogen irregular disertai kalsifikasi pada intra bulbus occuli kanan. PEMBAHASAN Retinoblastoma bisa terjadi baik unilateral bilateral, trilateral maupun quadrilateral. Pada kasus ini, pemeriksaan radiologi berperan untuk mendeteksi adanya tumor baik intra ocular maupun ekstra ocular. Diagnosis yang cepat dan tepat dengan menggunakan neuroimaging disertai penatalaksanaan yang agresif dapat menurunkan mortalitas pada pasien dengan retinoblastoma dan tumor intracranial. KESIMPULAN Diagnosis awal dan pengobatan terbukti penting dalam mengatasi perluasan tumor dan metastasis intracranial yang kemungkinan menyebabkan kematian. CT scan dan MRI sangat penting untuk diagnosis awal, perluasan, staging, rencana pengobatan dan follow up pasien retinoblastoma. Kata kunci : retinoblastoma, unilateral, trilateral, CT scan