J Korean Med Sci.  2023 May;38(18):e138. 10.3346/jkms.2023.38.e138.

Case 10: A 30-Year-Old Woman With Breast Mass and Family History of Cancer

Affiliations
  • 1Division of Medical Oncology, Department of Internal Medicine, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
  • 2Department of Radiology, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
  • 3Department of Clinical Pathology, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
  • 4Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea


Figure

  • Fig. 1 The pedigree of the patient’s family. The numbers in parentheses represent the age of onset of the disease.

  • Fig. 2 (A) Mammography shows indistinct hyperdense mass upper central region of right breast (arrow) and segmental distributed multifocal grouped amorphous microcalcifications at upper outer quadrant of right breast (arrowheads). (B) Another grouped amorphous microcalcifications is noted at lower central region of left breast (arrows). (C) Indistinct hypoechoic malignant mass at 12 o’clock of right breast (arrow). Segmental ductal changes with hypoechoic nodularities (arrowheads). (D) Small but prominent lymph nodes with cortical thickening are detected in right axillary level I, which are suspicious for metastatic lymph nodes. (E) Dynamic contrast enhanced breast MRI. MRI shows irregular shaped heterogeneously enhancing malignant mass at 12 o’ clock of right breast (arrow) on early dynamic phase. Along with this mass, segmental distributed clumped NME with segmental distribution is noted at upper outer quadrant of right breast (arrowheads). (F) Multifocal clumped or clustered ring pattern NME (hollow arrows) is noted at outer region of left breast. This finding is suspected to be bilateral malignancy, which is correlated with grouped microcalcifications at left breast in mammography.MRI = magnetic resonance imaging, NME = non-mass enhancement.

  • Fig. 3 Pathological findings of the brain biopsy. (A) The tumor cells showed a lack of tubule or gland formation, moderate nuclear pleomorphism, and frequent mitosis. (B) The tumor cells were homogeneous, dark circumferential pattern in HER immunostaining. (C) HER2 amplification was identified based on silver in situ hybridization. (D, E) The tumor cells were negative in estrogen receptor and progesterone receptor immunostainings.


Reference

1. Kumamoto T, Yamazaki F, Nakano Y, Tamura C, Tashiro S, Hattori H, et al. Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1. Int J Clin Oncol. 2021; 26(12):2161–2178. PMID: 34633580.
Article
2. Chompret A, Brugières L, Ronsin M, Gardes M, Dessarps-Freichey F, Abel A, et al. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer. 2000; 82(12):1932–1937. PMID: 10864200.
3. Gradishar WJ, Moran MS, Abraham J, Aft R, Agnese D, Allison KH, et al. Breast cancer, version 3.2022, NCCN clinical practice guidelines in oncology. J Natl Compr Canc Netw. 2022; 20(6):691–722. PMID: 35714673.
4. Weiss JM, Gupta S, Burke CA, Axell L, Chen LM, Chung DC, et al. NCCN guidelines(r) insights: genetic/familial high-risk assessment: colorectal, version 1.2021. J Natl Compr Canc Netw. 2021; 19(10):1122–1132. PMID: 34666312.
5. Trombetta MG, Dragun A, Mayr NA, Pierce LJ. Astro radiation therapy summary of the asco-astro-sso guideline on management of hereditary breast cancer. Pract Radiat Oncol. 2020; 10(4):235–242. PMID: 32471709.
6. Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, et al. Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer. J Clin Oncol. 2016; 34(13):1460–1468. PMID: 26976419.
Article
7. Sidransky D, Tokino T, Helzlsouer K, Zehnbauer B, Rausch G, Shelton B, et al. Inherited p53 gene mutations in breast cancer. Cancer Res. 1992; 52(10):2984–2986. PMID: 1581912.
8. Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, et al. Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009; 27(8):1250–1256. PMID: 19204208.
Article
9. Silwal-Pandit L, Vollan HK, Chin SF, Rueda OM, McKinney S, Osako T, et al. TP53 mutation spectrum in breast cancer is subtype specific and has distinct prognostic relevance. Clin Cancer Res. 2014; 20(13):3569–3580. PMID: 24803582.
Article
10. Mai PL, Best AF, Peters JA, DeCastro RM, Khincha PP, Loud JT, et al. Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer. 2016; 122(23):3673–3681. PMID: 27496084.
Article
11. Kappel S, Janschek E, Wolf B, Rudas M, Teleky B, Jakesz R, et al. TP53 germline mutation may affect response to anticancer treatments: analysis of an intensively treated Li-Fraumeni family. Breast Cancer Res Treat. 2015; 151(3):671–678. PMID: 25981898.
Article
12. Masciari S, Dillon DA, Rath M, Robson M, Weitzel JN, Balmana J, et al. Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort. Breast Cancer Res Treat. 2012; 133(3):1125–1130. PMID: 22392042.
Article
13. Kamihara J, Rana HQ, Garber JE. Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome. Hum Mutat. 2014; 35(6):654–662. PMID: 24706533.
Article
14. Kuba MG, Lester SC, Bowman T, Stokes SM, Taneja KL, Garber JE, et al. Histopathologic features of breast cancer in Li-Fraumeni syndrome. Mod Pathol. 2021; 34(3):542–548. PMID: 32636452.
Article
15. Alyami H, Yoo TK, Cheun JH, Lee HB, Jung SM, Ryu JM, et al. Clinical features of breast cancer in South Korean patients with germline tp53 gene mutations. J Breast Cancer. 2021; 24(2):175–182. PMID: 33818021.
Article
16. Thariat J, Chevalier F, Orbach D, Ollivier L, Marcy PY, Corradini N, et al. Avoidance or adaptation of radiotherapy in patients with cancer with Li-Fraumeni and heritable TP53-related cancer syndromes. Lancet Oncol. 2021; 22(12):e562–e574. PMID: 34856153.
Article
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