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Cohort studyPediatric blood & cancer · 2026

MYCN Amplification in RB1-Inactivated Retinoblastoma: Association With High-Risk Features.

Kyriaki Papaioannou, Regina Kubica, Karen Fischhuber … Deniz Kanber

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OphthalmologyCohort study

MYCN amplification, found in 7.2% of tumors, was linked to more aggressive retinoblastoma features.

MYCN Amplification in RB1-Inactivated Retinoblastoma: Association With High-Risk Features.

Kyriaki Papaioannou … Deniz Kanber

Pediatric blood & cancer · 2026

Background

MYCN amplification occurs in a subset of retinoblastoma cases, both with and without RB1 inactivation.

Methods

We examined the incidence of MYCN gain/amplification and RB1 inactivation in 192 unilateral retinoblastoma samples from children enucleated between 2011 and 2018 at the German reference center.

n = 192 unilateral retinoblastoma

Results

7.2%

found in about 1 in 14 tumors, all with RB1 loss too

n = 192 unilateral retinoblastoma

More results

All 10 tumors exhibited alterations in at least one RB1 allele (RB1 -/- or RB1 +/- ).

The RB1 mutation spectrum and overall genomic copy number changes were similar between MYCN-amplified and MYCN-nonamplified retinoblastomas.

More results

Age at diagnosis did not differ significantly between the two groups (p = 0.21); however, secondary glaucoma, massive choroidal, and scleral invasion occurred more often in MYCN-amplified retinoblastomas (p = 0.038, p = 0.03, and p = 0.04, respectively).

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Conclusion · 1 of 2

MYCN gain/amplification was identified in 7.2% of enucleated unilateral retinoblastomas, all of which showed RB1 inactivation.

Conclusion · 2 of 2

MYCN amplification was associated with more advanced disease and more aggressive clinical and histopathological features.

Post

MYCN Amplification in RB1-Inactivated Retinoblastoma: Association With High-Risk Features.

MYCN amplification, found in 7.2% of tumors, was linked to more aggressive retinoblastoma features.

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