Bilateral breast tumors, malignant phyllodes tumor and invasive lobular carcinoma in a 46,XX/46,XY mosaic female with family history of breast cancer.
作者： Masako Kasami , Masayukl Yoshlda , Jun Isogaki , Hiroshi Ogawa , Kazuya Shinmura
DOI: 10.1111/J.1440-1827.1997.TB03732.X
关键词: Breast cancer 、 Y chromosome 、 Pathology 、 Loss of heterozygosity 、 Biology 、 Invasive lobular carcinoma 、 46, XX/46,XY 、 Karyotype 、 Phyllodes tumor 、 X chromosome
摘要: Bilateral breast tumors, a malignant phyllodes tumor in the right and an invasive lobular carcinoma left breast, occurred 47-year-old woman with 46XX/46XY mosaic karyotype her peripheral blood lymphocytes intersex external genitalia. Postmortem examination revealed bilateral ovotestis. Three of patient's sisters also had cancer. In situ hybridization Y-specific probe Y-chromosome-specific signal both suggesting that clonal origin tumors this patient was Y-containing cells. Androgen-receptor polymorphism monoallelic X chromosome pattern recurrent tissue taken at autopsy, addition to loss heterozygosity demonstrated locus TP53. The slippage CA repeats shown loci D5S82 D11S527. mechanistic basis for occurrence XX/XY mosaicism, familial clustering cancer is still unknown. present study, however, suggests sex abnormality may have modified phenotype manner similar Klinefelter's syndrome (though phenotypically male) Y promoted cell growth.
sci-hub.se 参考文章(27)
Hideaki Mizoguchi, Masaaki Terada, Jun Yokota, Takashi Sugimura, Makio Wada, Y chromosome abnormality in human stomach and lung cancer. Japanese Journal of Cancer Research. ,vol. 78, pp. 780- 783 ,(1987) , 10.20772/CANCERSCI1985.78.8_780
H Cleve, U Löhrs, A Braun, S Kammerer, H P Schwarz, U Kuhnle, True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case. American Journal of Human Genetics. ,vol. 52, pp. 578- 585 ,(1993)
Aleksander Talerman, Marion S. Verp, Elizabeth Senekjian, Theresa Gilewski, Nicholas Vogelzang, True hermaphrodite with bilateral ovotestes, bilateral gonadoblastomas and dysgerminomas, 46, XX/46, XY karyotype, and a successful pregnancy Cancer. ,vol. 66, pp. 2668- 2672 ,(1990) , 10.1002/1097-0142(19901215)66:12<2668::AID-CNCR2820661234>3.0.CO;2-5
L. Petersen, K. Kock, B. B. Jacobsen, Germ cell neoplasms in three intersex patients with 46,XY karyotype. International Urology and Nephrology. ,vol. 24, pp. 633- 639 ,(1992) , 10.1007/BF02551299
T Ogata, K Tomita, A Hida, N Matsuo, Y Nakahori, Y Nakagome, Chromosomal localisation of a Y specific growth gene(s). Journal of Medical Genetics. ,vol. 32, pp. 572- 575 ,(1995) , 10.1136/JMG.32.7.572
Peter R. Papenhausen, O. Thomas Mueller, Barry Bercu, Jose Salazar, Thomas A. Tedesco, Cell line segregation in a 45,X/46,XY mosaic child with asymmetric leg growth. Clinical Genetics. ,vol. 40, pp. 237- 241 ,(2008) , 10.1111/J.1399-0004.1991.TB03084.X
Kazuya Shinmura, Haruhiko Sugimura, Yasuhisa Naito, Peter G. Shields, Isamu Kino, Frequent co-occurrence of mutator phenotype in synchronous, independent multiple cancers of the stomach Carcinogenesis. ,vol. 16, pp. 2989- 2993 ,(1995) , 10.1093/CARCIN/16.12.2989
Andrew H. Sinclair, Philippe Berta, Mark S. Palmer, J. Ross Hawkins, Beatrice L. Griffiths, Matthijs J. Smith, Jamie W. Foster, Anna-Maria Frischauf, Robin Lovell-Badge, Peter N. Goodfellow, A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif Nature. ,vol. 346, pp. 240- 244 ,(1990) , 10.1038/346240A0
Grant Townsend, Lassi Alvesalo, Tooth size in 47,XYY males: evidence for a direct effect of the Y chromosome on growth. Australian Dental Journal. ,vol. 30, pp. 268- 272 ,(1985) , 10.1111/J.1834-7819.1985.TB02507.X
Richard Wooster, Jonathan Mangion, Rosalind Eeles, Simon Smith, Mitchell Dowsett, Diane Averill, Peter Barrett-Lee, Douglas F. Easton, Bruce A.J. Ponder, Michael R. Stratton, A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Nature Genetics. ,vol. 2, pp. 132- 134 ,(1992) , 10.1038/NG1092-132