First clinical-radiological-pathological Rb-NET MDT, June 28 2024

Link to video recording: Link to recording: https://youtu.be/p9ADe2gKrHE

Thank you for joining us for the inaugural Clinical-Radiological-Pathological Rb-NET MDT! During this groundbreaking session, we had the honor of hosting an interdisciplinary panel featuring pediatric oncologists, ophthalmologists, radiologists, and pathologists. Together, they engaged in dynamic discussions on complex retinoblastoma cases presented live. This collaborative approach provided invaluable insights and fostered a deeper understanding of the multifaceted challenges in diagnosing and treating this condition.

Our meeting was expertly moderated by Dr. Petra Ketteler (Germany). The imaging panel included Dr. Pim de Graaf (Netherlands), Dr. Hervé Brisse (France) and Dr. Selma Sirin (Germany). The pathology panel featured Dr. Geeta Kashyap Vemuganti (India) and Dr. Anita Chan (Singapore).

Presentation 1^st case (UK): Dr. Ashwin Reddy (clinical), Dr. Ulrike Loebel (imaging) and Dr. Victoria Bryant (pathology), Dr. Tanzina Chowdhury (Pediatrics)

An 18-month-old girl presented with a “shiny reflex” in her left eye for 4 months. Examination revealed a unilateral intraocular mass, elevated intraocular pressure, and abnormal iris vessels. Clinical findings indicated a Group E unilateral retinoblastoma. Radiology confirmed unilateral disease and a retinal detachment with tumor extension into the optic nerve head on MRI. No trilateral involvement was noted. The patient underwent enucleation with an emphasis on cutting the optic nerve at the longest length possible.

Pathology reviewed slides of the detached retina, tumor characteristics, examples of anaplasia and scattered mitosis, full-thickness choroidal invasion, and optic nerve head invasion. A histology slide demonstrated iris neovascularization. The tumor was graded as pT4. Pediatric oncology discussed adjuvant chemotherapy and proton beam radiotherapy. The panel addressed questions on resecting the optic nerve and the impact of knowing high-risk histopathological features before enucleation.

Presentation 2^nd case (Israel): Prof. Didi Fabian (clinical), Dr. Shai Shrot (imaging) and Dr. Jonathan Weidenfeld (pathology), Dr. Orit Rubinstein (Pediatrics)

A 3-year-old girl presented with unilateral leukocoria. Ultrasonography showed a hyperechogenic mass with irregular borders and no significant calcifications, extending to the optic disc. Although it resembled Coats disease, retinoblastoma could not be ruled out. Clinical examination confirmed unilateral retinoblastoma. Radiology reviewed MRI slides showing diffuse unilateral disease with optic nerve involvement. Primary enucleation was performed.

Pathology slides revealed posterior segment involvement, retro-laminar optic nerve involvement, and massive choroidal invasion. Adjuvant chemotherapy was administered due to high-risk histopathological features. Follow-up MRI showed subtle enhancement along the optic nerve but no signs of recurrence. Months later, the child reported discomfort with the implant, and follow-up MRI revealed a large intracranial mass and extensive leptomeningeal disease. Pathology revision found no differences from the previous exam and no evidence of additional nerve involvement. Pediatric oncology discussed management and side effects of adjuvant chemotherapy. Follow-up MRI showed remission of the tumor with a much smaller residual suprasellar mass. The panel discussed the role of N-MYC in retinoblastoma and inter-center differences in histopathological analysis.