Familial neural crest tumours

Robertson, Clare; Tyrrell, J C; Pritchard, Jon

doi:10.1007/bf02026713

Cited by 22 publications

(12 citation statements)

References 21 publications

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“…Perhaps that sequence occurred in our patient, since metachronously and are most often reported in families with a history of neuroblastoma [12]. Our patient had none of the tumors were at an advanced stage when discovered.…”

mentioning

confidence: 54%

Late malignant transformation of dormant ganglioneuroma?

Moschovi

Arvanitis

Hadjigeorgi

et al. 1997

Med. Pediatr. Oncol.

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mentioning

confidence: 54%

Late malignant transformation of dormant ganglioneuroma?

Moschovi

Arvanitis

Hadjigeorgi

et al. 1997

Med. Pediatr. Oncol.

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“…Two individuals were shown to carry the PHOX2B mutation, samples from other affected individuals were not available. The full pedigree and clinical details are given in [Robertson et al, 1991]. the conservation of the amino acid through evolution, and the absence of the variant from controls strongly suggest that the mutation is pathogenic.…”

Section: Resultsmentioning

confidence: 98%

“…Tumor DNA was available from 35 cases. Clinical and linkage analyses in Family UB-NB3 have previously been reported [Robertson et al, 1991;Tonini et al, 2003;Longo et al, 2005].…”

Section: Subjectsmentioning

confidence: 96%

PHOX2B analysis in non‐syndromic neuroblastoma cases shows novel mutations and genotype–phenotype associations

McConville

Reid

Baskcomb

et al. 2006

American J of Med Genetics Pt A

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Neuroblastoma (NB) is an embryonal tumor originating from neural crest cells and is one of the most common solid tumors of childhood. Recently, constitutional mutations in PHOX2B have been shown to confer an increased risk of NB. To date, mutations predisposing to neural crest tumors have been reported in 20 individuals from 16 families. These families included additional clinical features such as Hirschsprung (HSCR) disease or congenital central hypoventilation syndrome, either in the index case or relatives. The contribution of PHOX2B mutations to NB cases without additional features is unclear. To address this we sequenced PHOX2B in constitutional DNA from 86 individuals with non-syndromic NB (4 cases had a family history of NB). We identified two mutations, 600delC, a frameshift mutation in an individual with isolated, unifocal NB and G197D, a missense mutation that was present in a family with multiple individuals with NB but no evidence of autonomic dysfunction. These data demonstrate that PHOX2B mutations are a rare cause of non-syndromic NB. The mutations we identified are outside the domains typically mutated in PHOX2B syndromes. This provides further evidence that the underlying PHOX2B mutational mechanism influences tumor risk and suggests that the position of missense mutations may influence the resulting phenotype.

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“…It has previously been reported that children with neuroblastoma have relatives with milder forms of the disease, i.e. benign ganglioneuromas (11, 12). Here we report on the markedly different histology in neuroblastic tumours arising in a mother and her two daughters.…”

Section: Discussionmentioning

confidence: 99%

Familial neuroblastoma – different histological manifestations in a family with three affected individuals

Zimling¹,

Rechnitzer

Rasmussen³

et al. 2004

APMIS

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Neuroblastoma is one of the most common malignant neoplasms in childhood. These tumours represent a heterogeneous group both in terms of clinical course and histological appearance, ranging from benign, slowly growing, often asymptomatic ganglioneuromas to malignant, highly aggressive neuroblastomas. Most cases occur sporadically, but in rare cases several individuals in the same family present with ganglioneuroblastomatous tumours. We report a case of familial neuroblastoma, occurring in a mother and her two daughters, with very different clinical presentation, outcome and tumour histology. The mother had recurrent, fully mature, benign ganglioneuromas, predominantly located in the retroperitoneum. The two daughters both developed malignant abdominal neuroblastomas, at the age of 2 and 8 years, respectively. Both died in spite of intensive therapy. Hereditary neuroblastoma appears to be as heterogeneous as the sporadic form of the disease. Since no consistent predisposition gene has been located in affected families, several different genetic or epigenetic events may account for the different histological and clinical presentations.

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Familial neural crest tumours

Cited by 22 publications

References 21 publications

Late malignant transformation of dormant ganglioneuroma?

Late malignant transformation of dormant ganglioneuroma?

PHOX2B analysis in non‐syndromic neuroblastoma cases shows novel mutations and genotype–phenotype associations

Familial neuroblastoma – different histological manifestations in a family with three affected individuals

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