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CDK4 and MDM2 amplification
Source: Childhood Cancer Genomics (PDQ®)–Health Professional Version, National Cancer Institute.
Source updated: April 30, 2025 · Captured 2026-09-09.
Selected source text with whitespace normalised. This Triangle page is not an NCI PDQ summary. Independent clinical review is pending.
Context: Neuroblastoma / Molecular features of neuroblastoma
CDK4 and MDM2 amplification are observed together in 1% to 2% of neuroblastoma cases, and these cases have distinctive biological and clinical features:[36,37]
Neuroblastoma with chromosome 12q amplification typically has discrete amplicons involving 12q13–14, which includes CDK4, and 12q15, which includes MDM2 and FRS2 (encoding the gene for fibroblast growth factor receptor substrate 2).
The primary tumors of most cases with CDK4 or MDM2 amplification were associated with the adrenal gland, although some renal primary tumors were also observed.
Lung metastases, which are infrequent in neuroblastoma, were observed in 9 of 13 cases with CDK4 or MDM2 amplification that presented with metastatic disease.
Most patients with CDK4 or MDM2 amplification did not have MYCN amplification, although MYCN amplification was present in approximately 25% of cases.
Outcome for patients with CDK4 or MDM2 amplification is poor. In one experience, only two of six patients with localized disease showed long-term survival, and nine of ten patients with metastatic disease died.[37] Another report described only one of eight patients with CDK4 or MDM2 amplification as a long-term survivor.[36] A third report described three patients with localized disease, all of whom subsequently died of their disease.[38]
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Preserved source evidence · Independent clinical review pending · Not medical advice