Pineal cysts—A benign association with familial retinoblastoma

Abstract

Patients with familial/heritable retinoblastoma (RB) are at increased risk of developing second malignancies throughout life, including a pineoblastoma (trilateral RB [TRB]) in early childhood. Current guidelines recommend regular surveillance brain imaging for those with heritable RB until 5 years of age. The presence of pineal cysts has been reported in patients with RB. Pineal cysts are thought to arise due to focal degeneration of the pineal gland and can be found incidentally. The finding of pineal abnormalities including cysts in children with RB on imaging is disconcerting, as it raises the possibility of an underlying malignancy, specifically a pinealoblastoma. The authors reviewed the imaging findings and clinical significance of pineal cysts in 69 patients diagnosed with RB at our center between December 1999 and November 2015. Twenty-six patients had pineal cysts found on brain magnetic resonance imaging (MRI) scans performed either at diagnosis or follow-up. Thirty-eight of 69 patients had underlying heritable RB. Nineteen of 38 familial RB patients had a pineal cyst compared with 3 out of 26 with sporadic RB (P = .004). In the majority, the imaging characteristics and size of the cysts remained stable or resolved. In this cohort, pineal cysts were detected at significantly increased frequency in heritable RB. This may be a benign association or may reflect abnormal underlying biology of pineal tissue in individuals highly susceptible to malignancy. Imaging characteristics can be helpful in distinguishing between benign and malignant lesions. The presence of a pineal cyst in patients with unilateral disease may be a useful indicator of underlying heritable RB.

MicroRNA‑106b promotes the proliferation, migration and invasion of retinoblastoma cells by inhibiting the expression of ZBTB4 protein

“…Without treatment, affected pediatric patients generally die within 1–2 years ( 2 ). Invasion and metastasis are the leading causes of death in pediatric patients with RB, making the disease a complex process that involves multiple genes, factors and procedures ( 3 , 4 ). In recent years, enucleation has been excluded from the treatment options for RB, and different treatments are adopted according to the different stages of the tumor, aiming to retain the eyes and their functions ( 5 ).…”

“…Dai et al ( 19 ) discovered that miR-106b promotes the invasion and migration of esophageal squamous cancer cells in a Kazakh population by downregulating the expression of Smad7. Li et al ( 20 ) reported that miR-106b increases the proliferation, invasion and migration of breast cancer cells by regulating the expression of α-( 1 , 3 )-fucosyltransferase. These studies suggest that miR-106b has varied functions and mechanisms of action in different types of tumor.…”

Retinoblastoma, the visible CNS tumor: A review

“…Pineal tumors are generally smaller than non-pineal tumors in trilateral retinoblastoma (de Jong, Kors, et al, 2014). Benign pineal cysts have also been observed with retinoblastoma (Beck Popovic, Balmer, Maeder, Braganca, & Munier, 2006;Gupta et al, 2016;Karatza, Shields, Flanders, Gonzalez, & Shields, 2006). In rare cases, pineal cysts can transform into malignant tumors, suggesting that they should be monitored over time .…”

Reasons for missed chemotherapy appointments in retinoblastoma patients undergoing chemotherapy: A report from a Tertiary Care Hospital from India

“…About 40% to 70% of children with retinoblastoma in the developing countries die, compared with 3% to 5% in the developed nations 6 . The management of retinoblastoma involves multi‐specialty care and involves the modalities of chemotherapy, radiotherapy, and surgery.…”

“…5 About 40% to 70% of children with retinoblastoma in the developing countries die, compared with 3% to 5% in the developed nations. 6 The management of retinoblastoma involves multi-specialty care and involves the modalities of chemotherapy, radiotherapy, and surgery. Chemotherapy is used for extraocular tumors to make them amenable to resection and is also used in the adjuvant setting in the presence of high-risk features in intraocular tumors.…”