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Logo of jclinpathJournal of Clinical PathologyVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Clin Pathol. 2001 December; 54(12): 897–910.
PMCID: PMC1731335

Neuroblastoma tumour genetics: clinical and biological aspects


Neuroblastoma tumour cells show complex combinations of acquired genetic aberrations, including ploidy changes, deletions of chromosome arms 1p and 11q, amplification of the MYCN oncogene, and—most frequently—gains of chromosome arm 17q. Despite intensive investigation, the fundamental role of these features in neuroblastoma initiation and progression remains to be understood. Nonetheless, great progress has been made in relating tumour genetic abnormalities to tumour behaviour and to clinical outcome; indeed, neuroblastoma provides a paradigm for the clinical importance of tumour genetic abnormalities. Knowledge of MYCN status is increasingly being used in treatment decisions for individual children, and the clinical value of 1p and 17q data as adjuncts or refinements in risk stratification is under active investigation. Reliable detection of these molecular cytogenetic features should be regarded as mandatory for all new cases at presentation.

Key Words: neuroblastoma genetics • 17q gain in neuroblastoma • neuroblastoma: 1p and MYCN • tumour genetics and prognosis

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Figure 1 (A) G-banded metaphase chromosomes 1 showing a large deletion including the p36 band. (B) Two colour interphase fluorescent in situ hybridisation (FISH) detection of 1p deletion; tumour nuclei showing two centromeres for chromosome 1 but only ...
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Figure 2 (A) Unbalanced translocation der(1)t(1;17)(p36;q21) resulting in concurrent loss of 1p36 and gain of 17q21–qter. (B) Association between 1p, 17q, and MYCN in 260 neuroblastoma primary tumours (data from Bown et al).53
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Figure 3 (A) Incidences of genetic abnormalities (1p deletion, MYCN amplification, and 17q gain) within tumour stages. (B) Correlation between tumour genetic features and clinical outcome in 260 cases (data from Bown et al).151

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