familial neuroblastoma
Neuroblastoma (NB), a childhood malignancy affecting neural crest deriving cell lineages, is characterized by great clinical variability and histological heterogeneity.
As NB usually occurs as sporadic form, molecular studies were mainly carried out on tumor samples and derived cell lines, leading to the identification of several somatic alterations.
Although familial NB is rare, linkage data obtained from different families have provided evidence of linkage to markers mapping to different chromosomal regions, indicating a remarkable genetic heterogeneity of NB.
Etiology
non-syndromal familial neuroblastoma
- 4p12: Germline mutations of the paired-like homeobox 2B PHOX2B gene in familial neuroblastoma (#15024693#, #15735672#)
- ALK germline mutations (#18923523#)
- 16p12-13 (#12438263#, #11107109#, #11107108#, #11107109#)
- 2p (#17317969#)
- 12p (#17317969#)
syndromal familial neuroblastoma
- hypoventilation-Hirschsprung syndrome (Rohrer T, 2002, #15024693#)
- neurofibromatosis type 1 (#9169039#; Origone P, 2003)
- Beckwith-Wiedemann syndrome (BWS) (#6850541#)
References
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