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familial neuroblastoma

Friday 4 June 2004

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

- Janoueix-Lerosey I, Lequin D, Brugières L, Ribeiro A, de Pontual L, Combaret V, Raynal V, Puisieux A, Schleiermacher G, Pierron G, Valteau-Couanet D, Frebourg T, Michon J, Lyonnet S, Amiel J, Delattre O. Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature. 2008 Oct 16;455(7215):967-70. PMID: #18923523#

- Longo L, Panza E, Schena F, Seri M, Devoto M, Romeo G, Bini C, Pappalardo G, Tonini GP, Perri P. Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p. Hum Hered. 2007 Feb 22;63(3-4):205-211 PMID: #17317969#

- Bourdeaut F, Trochet D, Janoueix-Lerosey I, Ribeiro A, Deville A, Coz C, Michiels JF, Lyonnet S, Amiel J, Delattre O. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Cancer Lett. 2005 Oct 18;228(1-2):51-8. PMID: #15949893#

- Longo L, Tonini GP, Ceccherini I, Perri P. Oligogenic inheritance in neuroblastoma. Cancer Lett. 2005 Oct 18;228(1-2):65-9. PMID: #15923081#

- Gaultier C, Trang H, Dauger S, Gallego J. Pediatric disorders with autonomic dysfunction: what role for PHOX2B? Pediatr Res. 2005 Jul;58(1):1-6. PMID: #15901893#

- Perri P, Bachetti T, Longo L, Matera I, Seri M, Tonini GP, Ceccherini I. PHOX2B mutations and genetic predisposition to neuroblastoma. Oncogene. 2005 Apr 21;24(18):3050-3. PMID: #15735672#

- Trochet, D.; Bourdeaut, F.; Janoueix-Lerosey, I.; Deville, A.; de Pontual, L.; Schleiermacher, G.; Coze, C.; Philip, N.; Frebourg, T.; Munnich, A.; Lyonnet, S.; Delattre, O.; Amiel, J. : Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am. J. Hum. Genet. 74: 761-764, 2004. PubMed ID : #15024693#

- Zimling ZG, Rechnitzer C, Rasmussen M, Petersen BL. Familial neuroblastoma - different histological manifestations in a family with three affected individuals. APMIS. 2004 Feb;112(2):153-8. PMID: #15056233#

- Claviez A, Lakomek M, Ritter J, Suttorp M, Kremens B, Dickerhoff R, Harms D, Berthold F, Hero B. Low occurrence of familial neuroblastomas and ganglioneuromas in five consecutive GPOH neuroblastoma treatment studies. Eur J Cancer. 2004 Dec;40(18):2760-5. PMID: #15648116#

- Tonini GP, Longo L, Coco S, Perri P. Familial neuroblastoma: a complex heritable disease. Cancer Lett. 2003 Jul 18;197(1-2):41-5. PMID: #12880958#

- Perri P, Longo L, McConville C, Cusano R, Rees SA, Seri M, Conte M, Romeo G, Devoto M, Tonini GP. Linkage analysis in families with recurrent neuroblastoma. Ann N Y Acad Sci. 2002 Jun;963:74-84. PMID: #12095931#

- Maris JM, Weiss MJ, Mosse Y, Hii G, Guo C, White PS, Hogarty MD, Mirensky T, Brodeur GM, Rebbeck TR, Urbanek M, Shusterman S. Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. Cancer Res. 2002 Nov 15;62(22):6651-8. PMID: #12438263#

- Tonini GP, McConville C, Cusano R, Rees SA, Dagnino M, Longo L, De Bernardi B, Conte M, Garaventa A, Romeo G, Devoto M, Seri M. Exclusion of candidate genes and chromosomal regions in familial neuroblastoma. Int J Mol Med. 2001 Jan;7(1):85-9. PMID: #11115614#

- Furuta S, Ohira M, Machida T, Hamano S, Nakagawara A. Analysis of loss of heterozygosity at 16p12-p13 (familial neuroblastoma locus) in 470 neuroblastomas including both sporadic and mass screening tumors. Med Pediatr Oncol. 2000 Dec;35(6):531-3. PMID: #11107109#

- Weiss MJ, Guo C, Shusterman S, Hii G, Mirensky TL, White PS, Hogarty MD, Rebbeck TR, Teare D, Urbanek M, Brodeur GM, Maris JM. Localization of a hereditary neuroblastoma predisposition gene to 16p12-p13. Med Pediatr Oncol. 2000 Dec;35(6):526-30. PMID: #11107108#

- Lo Cunsolo, C.; Iolascon, A.; Cavazzana, A.; Cusano, R.; Strigini, P.; Mazzocco, K.; Giordani, L.; Massimo, L.; De Bernardi, B.; Conte, M.; Tonini, G. P. : Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development. Cancer Genet. Cytogenet. 109: 126-130, 1999. PubMed ID : #10087945#

- Lemire EG, Chodirker BN, Williams GJ, Seargeant LE, Israels SJ, Phillips SM, de Nanassy JA, Maris JM, Yanofsky RA. Familial neuroblastoma: report of a kindred with later age at diagnosis. J Pediatr Hematol Oncol. 1998 Sep-Oct;20(5):489-93. PMID: #9787327#

- Maris JM, Chatten J, Meadows AT, Biegel JA, Brodeur GM. Familial neuroblastoma: a three-generation pedigree and a further association with Hirschsprung disease. Med Pediatr Oncol. 1997 Jan;28(1):1-5. PMID: #8950328#

- Tonini GP, Lo Cunsolo C, Cusano R, Iolascon A, Dagnino M, Conte M, Milanaccio C, De Bernardi B, Mazzocco K, Scaruffi P. Loss of heterozygosity for chromosome 1p in familial neuroblastoma. Eur J Cancer. 1997 Oct;33(12):1953-6. PMID: #9516831#

- Maris JM, Kyemba SM, Rebbeck TR, White PS, Sulman EP, Jensen SJ, Allen C, Biegel JA, Brodeur GM. Molecular genetic analysis of familial neuroblastoma. Eur J Cancer. 1997 Oct;33(12):1923-8. PMID: #9516825#

- Altura RA, Maris JM, Li H, Boyett JM, Brodeur GM, Look AT. Novel regions of chromosomal loss in familial neuroblastoma by comparative genomic hybridization. Genes Chromosomes Cancer. 1997 Jul;19(3):176-84. PMID: #9218999#

- Maris, J. M.; Kyemba, S. M.; Rebbeck, T. R.; White, P. S.; Sulman, E. P.; Jensen, S. J.; Allen, C.; Biegel, J. A.; Yanofsky, R. A.; Feldman, G. L.; Brodeur, G. M. : Familial predisposition to neuroblastoma does not map to chromosome band 1p36. Cancer Res. 56: 3421-3425, 1996. PubMed ID : #8758905#

- Clausen N, Andersson P, Tommerup N. Familial occurrence of neuroblastoma, von Recklinghausen’s neurofibromatosis, Hirschsprung’s agangliosis and jaw-winking syndrome. Acta Paediatr Scand. 1989 Sep;78(5):736-41. PMID: #2512759#

- Kushner BH, Gilbert F, Helson L. Familial neuroblastoma. Case reports, literature review, and etiologic considerations. Cancer. 1986 May 1;57(9):1887-93. PMID: #3955526#

- Emery LG, Shields M, Shah NR, Garbes A. Neuroblastoma associated with Beckwith-Wiedemann syndrome. Cancer. 1983 Jul 1;52(1):176-9. PMID: #6850541#

- Hecht, F.; Hecht, B. K.; Northrup, J. C.; Trachtenberg, N.; Wood, T. S.; Cohen, J. D. : Genetics of familial neuroblastoma: long-range studies. Cancer Genet. Cytogenet. 7: 227-230, 1982. PubMed ID : #7151041#

- Helson, L.; Blasco, P.; Murphy, M. L. : Familial neuroblastoma. (Abstract) Clin. Res. 17: 614 only, 1969.

- Tonini GP, Longo L, Coco S, Perri P. Familial neuroblastoma: a complex heritable disease. Cancer Lett. 2003 Jul 18;197(1-2):41-5. PMID: #12880958#

- Fairchild, R. S.; Kyner, J. L.; Hermreck, A.; Schimke, R. N. : Neuroblastoma, pheochromocytoma, and renal cell carcinoma: occurrence in a single patient. J.A.M.A. 242: 2210-2211, 1979. PubMed ID : #490809#

- Arenson, E. B.; Hutter, J. J., Jr.; Restuccia, R. D.; Holton, C. P. : Neuroblastoma in father and son. J.A.M.A. 235: 727-729, 1976. PubMed ID : #946291#

- Klein, H.; Plochl, E.; Lampert, F. : Familial neuroblastoma: cytogenetic investigation of the peripheral blood. Humangenetik 28: 217-220, 1975. PubMed ID : 1150281

- Roberts, F. F.; Lee, K. R. : Familial neuroblastoma presenting as multiple tumors. Radiology 116: 133-136, 1975. PubMed ID : #1138258#

- Pegelow, C. H.; Ebbin, A. J.; Powars, D.; Turner, J. W. : Familial neuroblastoma. J. Pediat. 87: 763-765, 1975. PubMed ID : #1185345#

- Gerson, J. M.; Chatten, J.; Eisman, S. : Familial neuroblastoma—a follow-up. (Letter) New Eng. J. Med. 290: 1487 only, 1974. PubMed ID : #4831767#

- Bergstrom JF, Long JM. Familial occurrence of ganglioneuromas.
Tex Med. 1974 Jul;70(7):62-5. PMID: #4847000#

- Familial neuroblastoma: report of two sib pairs. Arch. Dis. Child. 48: 63-66, 1973. PubMed ID : #4685597#

- Hardy, P. C.; Nesbit, M. E., Jr. : Familial neuroblastoma: report of a kindred with a high incidence of infantile tumors. J. Pediat. 80: 74-77, 1972. PubMed ID : #5016355#

- Wong, K. Y.; Hanenson, I. B.; Lampkin, B. C. : Familial neuroblastoma. Am. J. Dis. Child. 121: 415-416, 1971. PubMed ID : #5091536#

- Griffin, M. E.; Bolande, R. P. : Familial neuroblastoma with regression and maturation to ganglioneurofibroma. Pediatrics 43: 377-382, 1969. PubMed ID : #5775190#

- Chatten, J.; Voorhees, M. L. : Familial neuroblastoma. Report of a kindred with multiple disorders, including neuroblastomas in four siblings. New Eng. J. Med. 277: 1230-1236, 1967. PubMed ID : #6058612#

- Dodge, H. J.; Benner, M. C. : Neuroblastoma of the adrenal medulla in siblings. Rocky Mt. Med. J. 42: 35-38, 1945.