Obstet Gynecol Sci.  2017 Sep;60(5):477-480. 10.5468/ogs.2017.60.5.477.

BRCA1-mutated ovarian cancer with skin metastasis: a case report

Affiliations
  • 1Department of Obstetrics and Gynecology, Dong-A University College of Medicine, Busan, Korea. mdpjw1216@gmail.com
  • 2Department of Pathology, Dong-A University College of Medicine, Busan, Korea.

Abstract

The major risk factor for ovarian cancer (OC) is mutation of the BRCA1 or BRCA2 DNA mismatch repair genes, which occurs in approximately 10% of OC cases. Most previous studies have demonstrated that BRCA1- and BRCA2-mutated OCs are associated with better prognosis than sporadic OCs. However, information about the patterns and clinical course of the metastatic spread of BRCA-mutated OCs is limited. Herein, we describe a case of OC with a BRCA1 mutation and skin metastases in a 49-year-old patient, which to the best of our knowledge has not been reported previously.

Keyword

Skin metastases; Ovarian neoplasms; BRCA mutation

MeSH Terms

DNA Mismatch Repair
Humans
Middle Aged
Neoplasm Metastasis*
Ovarian Neoplasms*
Prognosis
Risk Factors
Skin*

Figure

  • Fig. 1 (A) Multiple ulcerated, erythematous, nodular skin lesions 1 to 2 cm in diameter were also observed over the upper aspect of the left flank and the upper part of the left upper extremity. (B) The dermis of the skin shows multiple metastatic carcinoma nests, showing papillary configuration (open arrow) (H&E, ×40). H&E, hematoxylin and eosin.

  • Fig. 2 PET scan revealed extensive skin metastasis involving the whole body. PET, positron emission tomography.


Reference

1. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003; 72:1117–1130. PMID: 12677558.
Article
2. Boyd J, Sonoda Y, Federici MG, Bogomolniy F, Rhei E, Maresco DL, et al. Clinicopathologic features of BRCA-linked and sporadic ovarian cancer. JAMA. 2000; 283:2260–2265. PMID: 10807385.
3. Rubin SC, Benjamin I, Behbakht K, Takahashi H, Morgan MA, LiVolsi VA, et al. Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. N Engl J Med. 1996; 335:1413–1416. PMID: 8875917.
4. Cass I, Baldwin RL, Varkey T, Moslehi R, Narod SA, Karlan BY. Improved survival in women with BRCA-associated ovarian carcinoma. Cancer. 2003; 97:2187–2195. PMID: 12712470.
5. Cortez D, Wang Y, Qin J, Elledge SJ. Requirement of ATM-dependent phosphorylation of BRCA1 in the DNA damage response to double-strand breaks. Science. 1999; 286:1162–1166. PMID: 10550055.
Article
6. Dauplat J, Hacker NF, Nieberg RK, Berek JS, Rose TP, Sagae S. Distant metastases in epithelial ovarian carcinoma. Cancer. 1987; 60:1561–1566. PMID: 3621129.
Article
7. Spencer PS, Helm TN. Skin metastases in cancer patients. Cutis. 1987; 39:119–121. PMID: 3829718.
8. Pal T, Permuth-Wey J, Betts JA, Krischer JP, Fiorica J, Arango H, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer. 2005; 104:2807–2816. PMID: 16284991.
9. Soegaard M, Kjaer SK, Cox M, Wozniak E, Høgdall E, Høgdall C, et al. BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark. Clin Cancer Res. 2008; 14:3761–3767. PMID: 18559594.
Article
10. Gilks CB, Prat J. Ovarian carcinoma pathology and genetics: recent advances. Hum Pathol. 2009; 40:1213–1223. PMID: 19552940.
Article
11. Tan DS, Rothermundt C, Thomas K, Bancroft E, Eeles R, Shanley S, et al. “BRCAness” syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations. J Clin Oncol. 2008; 26:5530–5536. PMID: 18955455.
12. Yang D, Khan S, Sun Y, Hess K, Shmulevich I, Sood AK, et al. Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer. JAMA. 2011; 306:1557–1565. PMID: 21990299.
Article
13. Gourley C, Michie CO, Roxburgh P, Yap TA, Harden S, Paul J, et al. Increased incidence of visceral metastases in Scottish patients with BRCA1/2-defective ovarian cancer: an extension of the ovarian BRCAness phenotype. J Clin Oncol. 2010; 28:2505–2511. PMID: 20406939.
Article
14. Kim YJ, Kim SK, Kim HD, Cho MK, Park YL, Lee JS, et al. A case of skin metastasis of ovarian cancer (Mucinous Cystadenocarcinoma). Korean J Dermatol. 2010; 48:342–345.
15. Bryant HE, Schultz N, Thomas HD, Parker KM, Flower D, Lopez E, et al. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature. 2005; 434:913–917. PMID: 15829966.
Article
Full Text Links
  • OGS
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr