Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1992 May;29(5):338–341. doi: 10.1136/jmg.29.5.338

Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions?

T R Cole 1, H E Hughes 1, M J Jeffreys 1, G T Williams 1, M M Arnold 1
PMCID: PMC1015955  PMID: 1316442

Abstract

A 22 year old female with Sotos syndrome and a small cell lung carcinoma is described. This case is of interest not only because of the somatic growth pattern, atypical of Sotos syndrome, but also because of the association with a rare tumour. Of significance is the possible role of mutations at 3p21 in the aetiology of Sotos syndrome and tumour development.

Full text

PDF
338

Images in this article

339Image
on p.339
340Image
on p.340

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Abraham J. M., Snodgrass G. J. Sotos' syndrome of cerebral gigantism. Arch Dis Child. 1969 Apr;44(234):203–210. doi: 10.1136/adc.44.234.203. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Askin F. B., Rosai J., Sibley R. K., Dehner L. P., McAlister W. H. Malignant small cell tumor of the thoracopulmonary region in childhood: a distinctive clinicopathologic entity of uncertain histogenesis. Cancer. 1979 Jun;43(6):2438–2451. doi: 10.1002/1097-0142(197906)43:6<2438::aid-cncr2820430640>3.0.co;2-9. [DOI] [PubMed] [Google Scholar]
  3. Cole T. R., Hughes H. E. Sotos syndrome. J Med Genet. 1990 Sep;27(9):571–576. doi: 10.1136/jmg.27.9.571. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Daling J. R., Starzyk P., Olshan A. F., Weiss N. S. Birth weight and the incidence of childhood cancer. J Natl Cancer Inst. 1984 May;72(5):1039–1041. [PubMed] [Google Scholar]
  5. Evans P. R. Sotos' syndrome (cerebral gigantism) with peripheral dysostosis. Arch Dis Child. 1971 Apr;46(246):199–202. doi: 10.1136/adc.46.246.199. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Fraumeni J. F., Jr, Geiser C. F., Manning M. D. Wilms' tumor and congenital hemihypertrophy: report of five new cases and review of literature. Pediatrics. 1967 Nov;40(5):886–899. [PubMed] [Google Scholar]
  7. Hook E. B., Reynolds J. W. Cerebral gigantism: endocrinological and clinical observations of six patients including a congenital giant, concordant monozygotic twins, and a child who acheived adult gigantic size. J Pediatr. 1967 Jun;70(6):900–914. doi: 10.1016/s0022-3476(67)80263-4. [DOI] [PubMed] [Google Scholar]
  8. Kok K., Osinga J., Carritt B., Davis M. B., van der Hout A. H., van der Veen A. Y., Landsvater R. M., de Leij L. F., Berendsen H. H., Postmus P. E. Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer. Nature. 1987 Dec 10;330(6148):578–581. doi: 10.1038/330578a0. [DOI] [PubMed] [Google Scholar]
  9. Koufos A., Hansen M. F., Copeland N. G., Jenkins N. A., Lampkin B. C., Cavenee W. K. Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism. Nature. 1985 Jul 25;316(6026):330–334. doi: 10.1038/316330a0. [DOI] [PubMed] [Google Scholar]
  10. Maldonado V., Gaynon P. S., Poznanski A. K. Cerebral gigantism associated with Wilms' tumor. Am J Dis Child. 1984 May;138(5):486–488. doi: 10.1001/archpedi.1984.02140430062016. [DOI] [PubMed] [Google Scholar]
  11. Nance M. A., Neglia J. P., Talwar D., Berry S. A. Neuroblastoma in a patient with Sotos' syndrome. J Med Genet. 1990 Feb;27(2):130–132. doi: 10.1136/jmg.27.2.130. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Neri G., Martini-Neri M. E., Katz B. E., Opitz J. M. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. Am J Med Genet. 1984 Sep;19(1):195–207. doi: 10.1002/ajmg.1320190120. [DOI] [PubMed] [Google Scholar]
  13. Reeve A. E., Sih S. A., Raizis A. M., Feinberg A. P. Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells. Mol Cell Biol. 1989 Apr;9(4):1799–1803. doi: 10.1128/mcb.9.4.1799. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. SOTOS J. F., DODGE P. R., MUIRHEAD D., CRAWFORD J. D., TALBOT N. B. CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER. N Engl J Med. 1964 Jul 16;271:109–116. doi: 10.1056/NEJM196407162710301. [DOI] [PubMed] [Google Scholar]
  15. Schrander-Stumpel C. T., Fryns J. P., Hamers G. G. Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21)) Clin Genet. 1990 Mar;37(3):226–229. doi: 10.1111/j.1399-0004.1990.tb03507.x. [DOI] [PubMed] [Google Scholar]
  16. Seyedabadi S., Bard D. S., Zuna R. E., Schedewie H., Araoz C., Elders M. J. Epidermoid carcinoma of the vagina in a patient with cerebral gigantism. J Ark Med Soc. 1981 Aug;78(3):123–127. [PubMed] [Google Scholar]
  17. Sotelo-Avila C., Gooch W. M., 3rd Neoplasms associated with the Beckwith-Wiedemann syndrome. Perspect Pediatr Pathol. 1976;3:255–272. [PubMed] [Google Scholar]
  18. Sugarman G. I., Heuser E. T., Reed W. B. A case of cerebral gigantism and hepatocarcinoma. Am J Dis Child. 1977 Jun;131(6):631–633. doi: 10.1001/archpedi.1977.02120190025004. [DOI] [PubMed] [Google Scholar]
  19. Tamaki K., Horie K., Go T., Okuno T., Mikawa H., Hua Z. Y., Abe T. Sotos syndrome with a balanced reciprocal translocation t(2;12)(q33.3;q15). Ann Genet. 1989;32(4):244–246. [PubMed] [Google Scholar]
  20. Whang-Peng J., Bunn P. A., Jr, Kao-Shan C. S., Lee E. C., Carney D. N., Gazdar A., Minna J. D. A nonrandom chromosomal abnormality, del 3p(14-23), in human small cell lung cancer (SCLC). Cancer Genet Cytogenet. 1982 Jun;6(2):119–134. doi: 10.1016/0165-4608(82)90077-2. [DOI] [PubMed] [Google Scholar]
  21. Wit J. M., Beemer F. A., Barth P. G., Oorthuys J. W., Dijkstra P. F., Van den Brande J. L., Leschot N. J. Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Analysis of clinical features, growth and plasma somatomedin. Eur J Pediatr. 1985 Jul;144(2):131–140. doi: 10.1007/BF00451898. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES