Advertisement

Surgery Today

, Volume 36, Issue 1, pp 71–75 | Cite as

Synchronous Bilateral Breast Carcinoma in a 50-Year-Old Man with 45,X/46,XY Mosaic Karyotype: Report of a Case

  • Gianluca Franceschini
  • Pierfrancesco D'Alba
  • Melania Costantini
  • Andrea Magistrelli
  • Paolo Belli
  • Antonino Mulè
  • Claudio Coco
  • Aurelio Picciocchi
Article

Abstract

We report a case of synchronous bilateral breast cancer in a patient with ambiguous external genitalia attributed to a 45,X/46,XY mosaicism. To our knowledge, this represents the first such case ever to be reported. Mammography, ultrasonography, computed tomography, and magnetic resonance imaging all showed bilateral suspicious breast masses with microcalcifications. There were no radiological findings of muscle invasion or axillary lymphadenopathy. The patient was successfully treated by bilateral radical modified mastectomy followed by external irradiation and adjuvant endocrine therapy. Histological examination revealed a bilateral ductal carcinoma in situ, with a cribriform and papillary pattern and microfoci of infiltrating ductal carcinoma. The hormonal profile revealed high levels of follicle-stimulating hormone and luteinizing hormone, and low levels of testosterone. Testicular sonography revealed small hypoechoic testicles with bilateral microlithiasis. This case shows that 45,X/46,XY men may have an increased risk of breast cancer and must be followed up carefully.

Key words

Synchronous bilateral breast cancer 45,X/46,XY mosaicism Testicular microlithiasis 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Adeynka, A, Mertens, F, Bondeson, L, Garne, JP, Borg, A, Baldetorp, B,  et al. 2000Cytogenetic heterogeneity and clonal evolution in synchronous bilateral breast carcinoma and their lymph node metastases from a male patient without any detectable BRCA2 germline mutationCancer Genet Cytogent118427Google Scholar
  2. 2.
    Takei, H, Iino, Y, Horiguchi, J, Maemura, M, Koibuchi, Y, Yokoe, T,  et al. 2001Tamoxifen-failed male breast cancer with a high level of circulating estrogen: report of a caseSurg Today3114951PubMedCrossRefGoogle Scholar
  3. 3.
    Akashi-Tanaka, S, Fukutomi, T, Fukami, A, Fujiki, T 1996Male breast cancer in patients with a familial history of breast cancerSurg Today269759PubMedCrossRefGoogle Scholar
  4. 4.
    Sanchez, AG, Villanueva, AG, Redondo, C 1986Lobular carcinoma of the breast in a patient with Klinefelter's syndromeCancer5711813PubMedGoogle Scholar
  5. 5.
    Volm, MD, Talamonti, MS, Thangavelu, M, Gradishar, WK 1997Pituitary adenoma and bilateral male breast cancer: an unusual associationJ Surg Oncol64748PubMedCrossRefGoogle Scholar
  6. 6.
    Deker, JP, Lerner, HJ, Schwartz, I 1982Breast carcinoma in a 46,X true hermaphroditeCancer4914814Google Scholar
  7. 7.
    Hado, HS, Helmy, SW, Klemm, K, Miller, P, Elhadd, TA 2003XX male: a rare cause of short stature, infertility, gynaecomastia and carcinoma of the breastInt J Clin Pract578445PubMedGoogle Scholar
  8. 8.
    Kasami, M, Yoshida, M, Isogaki, J, Ogawa, H, Shinmura, K, Endo, Y,  et al. 1997Bilateral breast tumors, malignant phyllodes tumor and invasive lobular carcinoma in a 46,XX/46,XY mosaic female with family history of breast cancerPathol Int4714754PubMedCrossRefGoogle Scholar
  9. 9.
    Mertani, HC, Garcia-Caballero, T, Lambert, A, Gerard, F, Palayer, C, Boutin, JM,  et al. 1998Cellular expression of growth hormone and prolactin receptors in human breast disordersInt J Cancer7920211PubMedCrossRefGoogle Scholar
  10. 10.
    Olsson, H, Ranstam, J 1988Head trauma and exposure to prolactin-elevating drugs aa risk factors for male breast cancerJ Natl Cancer Inst8067983PubMedGoogle Scholar
  11. 11.
    Sasco, AJ, Lowenfels, AB, Pasker-de Jong, P 1993Epidemiology of male breast cancer. A meta-analysis of published case-control studies and discussion of selected aetiological factorsInt J Cancer5353849PubMedGoogle Scholar
  12. 12.
    Casey, G 1997The BRCA1 and BRCA2 breast cancer genesCurr Opin Oncol98893PubMedCrossRefGoogle Scholar
  13. 13.
    Struewing, JP, Hartge, P, Wacholder, S, Baker, SM, Berlin, M, McAdams, M,  et al. 1997The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi JewsN Engl J Med33614018PubMedCrossRefGoogle Scholar
  14. 14.
    Hultborn, R, Hanson, C, Kopf, I, Verbiene, I, Warnhammar, E, Weimarck, A 1997Prevalence of Klinefelter's syndrome in male breast cancer patientsAnticancer Res1742937PubMedGoogle Scholar
  15. 15.
    Nirmul, D, Pegoraro, RJ, Jialal, I, Naidoo, C, Joubert, SM 1983The sex hormone profile of male patients with breast cancerBr J Cancer484237PubMedGoogle Scholar
  16. 16.
    Donegan, WL, Redlich, PN 1996Breast cancer in menSurg Clin North Am7634363PubMedCrossRefGoogle Scholar
  17. 17.
    Hecht, JR, Winchester, DJ 1994Male breast cancerAm J Clin Pathol102S2530PubMedGoogle Scholar
  18. 18.
    Thomas, DB, Jimenez, LM, McTiernan, A, Rosenblatt, K, Stalsberg, H, Stemhagen, A,  et al. 1992Breast cancer in men: risk factors with hormonal implicationsAm J Epidemiol13573448PubMedGoogle Scholar
  19. 19.
    Evans, DB, Crichlow, RW 1987Carcinoma of the male breast and Klinefelter's syndrome: is there an association?Cancer J Clin37246CrossRefGoogle Scholar
  20. 20.
    Wolman, SR, Sanford, J, Ratner, S, Dawson, PJ 1995Breast cancer in males. DNA content and sex chromosome constitutionMod Pathol823943PubMedGoogle Scholar
  21. 21.
    Papadimas, J, Goulis, DG, Giannouli, C, Papanicolaou, A, Tarlatzis, B, Bontis, JN 2001Ambigous genitalia, 45,X/46,XY mosaic karyotype and Y chromosome microdeletions in a 17-year-old manFertil Steril17612613Google Scholar
  22. 22.
    Grumbach MM, Conte FA. Disorders of sex differentiation. In: Williams RH, editor. Textbook of endocrinology. 7th ed. Philadelphia: Saunders; p. 312–401Google Scholar
  23. 23.
    Telvi, L, Lebbar, A, Del Pino, O, Barbet, JP, Chaussain, JL 199945,X/46,XY mosaicism: report of 27 casesPediatrics1043048PubMedCrossRefGoogle Scholar
  24. 24.
    Okada, K, Kajiwara, S, Tanaka, H, Sakamoto, G 2003Synchronous bilateral noninvasive ductal carcinoma of the male breast: a case reportBreast Cancer101636PubMedCrossRefGoogle Scholar
  25. 25.
    Zakhireh, A, Saltzstein, EC, Terreros, DA 2004Ductal carcinoma in site (DCIS) of the male breastBreast J102634PubMedCrossRefGoogle Scholar
  26. 26.
    Muller, J, Ritzen, EM, Ivarsson, SA, Rajpert-De Meyts, E, Norjavaara, E, Shakkebaek, NE 1999Management of males with 45,X/46,XY gonadal dysgenesisHorm Res52114PubMedGoogle Scholar
  27. 27.
    Bennett, HF, Middleton, WD, Bullock, AD, Teefey, SA 2001Testicular microlithiasis: US follow upRadiology2244258Google Scholar
  28. 28.
    Doherty, FJ, Mullins, TL, Sant, GR, Drinkwater, MA, Ucci, AA,Jr 1987Testicular microlithiasis: a unique sonographic appearanceJ Ultrasound Med638992PubMedGoogle Scholar
  29. 29.
    Kim, B, Winter, TC,3rd, Ryu, JA 2003Testicular microlithiasis: clinical significance and review of the literatureEur Radiol13256776PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Tokyo 2006

Authors and Affiliations

  • Gianluca Franceschini
    • 1
  • Pierfrancesco D'Alba
    • 1
  • Melania Costantini
    • 2
  • Andrea Magistrelli
    • 2
  • Paolo Belli
    • 2
  • Antonino Mulè
    • 3
  • Claudio Coco
    • 1
  • Aurelio Picciocchi
    • 1
  1. 1.Department of SurgeryCatholic University School of Medicine, Policlinico “Agostino Gemelli”RomeItaly
  2. 2.Department of RadiologyCatholic University School of Medicine, Policlinico “Agostino Gemelli”RomeItaly
  3. 3.Department of PathologyCatholic University School of Medicine, Policlinico “Agostino Gemelli”RomeItaly

Personalised recommendations