Summary
A cytogenetic analysis of a lung metastasis of an adamantinoma of the tibia, a rare tumor of the long bones, revealed a karyotype 52, XY, t(7;13)(q32;q14), +7, +12, +13, +19, +der(7) t(7;13), +der(13) t(7;13). The t(7;13) was found to be constitutional in the patient and was also present in peripheral blood lymphocytes of his unaffected father. However, both subjects displayed normal levels of esterase D enzyme activity.
Similar content being viewed by others
References
Benedict WF (1987) Recessive human cancer susceptibility genes (retinoblastoma and Wilms' loci). Adv Viral Oncol 7:19–34
Bernstein LH, Grisham MB, Cole KD, Everse J (1978) Substrate inhibition of the mitochondrial and cytoplasmic malate dehydrogenase. J Biol Chem 253:8697–8701
Blanquet V, Turleau C, Creau-Goldberg N, Cochet C, Grouchy J de (1987) De novo t(2;13)(p24.3;q14.2) and retinoblastoma. Mapping of two 13q14 probes by in situ hybridization. Hum Genet 76:102–105
Campanacci M, Giunti A, Bertoni F, Laus M, Gitelis S (1981) Adamantinoma of the long bones. The experience at the Istituto Ortopedico Rizzoli. Am J Surg Pathol 5:533–542
George DL, Francke U (1976) Gene dosage effect: regional mapping of human glutathione reductase on chromosome 8. Cytogenet Cell Genet 17:282–286
Gibas LM, Gibas Z, Sandberg AA (1984) Technical aspects of cytogenetic analysis of human solid tumors. Karyogram 10:452–454
Higgins MJ, Hansen MF, Cavenee WK, Lalande M (1989) Molecular detection of chromosomal translocations that disrupt the putative retinoblastoma susceptibility locus. Mol Cell Biol 9:1–5
ISCN (1985) An international system for human cytogenetic nomenclature. Birth Defects, Original Article Series, Vol 21, No 1 (March of Dimes Birth Defects Foundation, New York)
Keeney GL, Unni KK, Beabout JW, Pritchard DJ (1989) Adamantinoma of long bones. Cancer 64:730–737
Knudson AG, Meadows AT, Nichols WW, Hill R (1976) Chromosome deletion and retinoblastoma. N Engl J Med 295:1120–1123
Mitchell CD, Cowell JK (1988) Predisposition to retinoblastoma due to a translocation within the 4.7R locus. Oncogene 4:253–257
Moon NF, Mori H (1986) Adamantinoma of the appendicular skeleton-updated. Clin Orthop Rel Res 204:215–237
Sparkes RS, Targum S, Gershon E, Sensabaugh GF, Sparkes MC, Crist M (1979) Evidence for a null allele at the esterase D (EC 3.1.1.1.) locus. Hum Genet 46:319–323
Turleau C, Grouchy J de, Chavin-Colin F, Despoisses S, Leblanc A (1983) Two cases of del(13q)-retinoblastoma and two cases of partial trisomy due to a familial insertion. Ann Génét (Paris) 26:158–160
Turleau C, Grouchy J de, Chavin-Colin F, Junien C, Seger J, Schlienger P, Leblanc A, Haye C (1985) Cytogenetic forms of retinoblastoma: their incidence in a survey of 66 patients. Cancer Genet Cytogenet 16:321–334
Yunis JJ (1981) New chromosome techniques in the study of human neoplasia. Hum Pathol 12:540–549
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Sozzi, G., Miozzo, M., Di Palma, S. et al. Involvement of the region 13q14 in a patient with adamantinoma of the long bones. Hum Genet 85, 513–515 (1990). https://doi.org/10.1007/BF00194227
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00194227