Granulomatous mastitis (GM) is a rare disease, particularly among men. Herein, we present a case of GM diagnosed in a 63-year-old male patient who showed reduction in the tumor size during 3 months of observation.
A 34-year-old woman with breast cancer and the BRCA2: p.Gln3047Ter was treated with olaparib. After tumor progression, cancer genomic profiling testing revealed the BRCA2 p.Gln3047Ter and p.Gln3047Tyr, with 48.9% and 0.37% allele frequency, respectively. These findings shed light on reversion mutation as a resistance mechanism to olaparib in breast cancer.
Background: MicroRNA (miR) is single stranded RNA which regulates the gene expression epigenetically by inhibiting the mRNA translation as well as promoting mRNA degradation. MiR-99b is known as a regulator of mechanistic target of rapamycin (mTOR) signaling and was reported as both onco-miR that promote cell proliferation and tumor suppressor-miR in multiple cancers. We hypothesized that there is a complex interaction between miR-99b and cancer signaling pathways as well as tumor microenvironment, which may influence outcomes. Methods: We studied the clinical relevance of miR-99b expression by performing in silico analyses of 1,961 breast cancer patients using two independent large cohorts; METABRIC and TCGA. Results: We found that high miR-99b breast cancer enriched MTORC1 signaling gene set (normalized enrichment score (NES)>1.50 in both cohorts), but not epithelial mesenchymal transition, NF-kB, nor TGF-β signaling gene sets (all false discovery rate (FDR)>0.40). High miR-99b breast cancer was significantly associated with high rates of mutation scores; silent- and non-silent-mutation rate, fraction altered, single-nucleotide variant neoantigens, as well as intratumor heterogeneity and homologous recombination defects. MiR-99b high tumors also enriched several cell proliferation-related gene sets; E2F targets, G2M checkpoint, and Mitotic spindle signaling, and was significantly associated with pathological grade, but not with subtype nor AJCC stage. High miR-99b breast cancer was significantly associated with low fraction of several stromal cells, including adipocytes cells, keratinocytes cells, and lymphatic endothelial cells in tumor microenvironment (all p< 0.001). On the other hand, miR-99b expression was not associated with immune function nor immune cell infiltration in breast cancer, except for dendritic cells (p=0.006 and 0.020, respectively). Finally, breast cancer with high miR-99b expression was significantly associated with worse overall survival (OS) (hazard ratio (HR)=1.23 (p< 0.001) and 1.26 (p=0.027), respectively) and disease-specific survival (DSS) (HR=1.28 (p< 0.001) and 1.39 (p=0.022), respectively), particularly DSS for ER-positive/HER2-negative breast cancer (HR=1.29 (p< 0.001) and 1.82 (p=0.017), respectively), consistently in two cohorts. In conclusion, we found that high miR-99b expressing breast cancer was significantly associated with not only MTORC1 but also cell proliferation and worse patient outcomes particularly in ER-positive/HER2-negative breast cancer. Citation Format: Masanori Oshi, Yoshihisa Tokumaru, Nobuhiko Sugito, Mahato Sasamoto, Rongrong Wu, Li Yan, Akimitsu Yamada, Takashi Ishikawa, Itaru Endo, Kazuaki Takabe. High expression of MiR-99b in breast cancer is associated with cell proliferation signaling and worse patient survivals in breast cancer [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr P3-05-33.
A rare missense mutation was identified as a reversion mutation using cancer genomic profiling and a suspected mechanism underlying resistance to olaparib in breast cancer.
Background Spontaneous regression (SR) of cancer is a rare condition in which the cancer partially or completely disappears without treatment. We report a case of breast cancer with tumor regression and spontaneously induced T-cell-mediated immunological responses in a surgical specimen obtained after core needle biopsy (CNB). Case Description A 52-year-old woman presented with a mass in the right breast. Mammography showed a high-density mass with fine serrated margins in the right lower outer quadrant. Breast ultrasonography showed an irregular hypoechoic mass with a maximum diameter of 22 mm. CNB was performed and revealed an invasive ductal carcinoma with negative estrogen receptors, positive progesterone receptors, and negative HER2 (1+). The Ki67 index was 70% to 80%. Luminal B cT2N1M0 stage IIB right breast cancer was diagnosed. Although preoperative chemotherapy was considered, surgery was selected because of her history of schizophrenia. She underwent right mastectomy and axillary lymph node dissection. A postoperative pathological analysis revealed a 20 mm × 10 mm × 10 mm mass. However, most areas of the mass regressed and appeared as necrotic tissue with no obvious invasive areas. Only intraductal extension was observed in one glandular duct. Axillary lymph node metastases were not observed. These results suggest that the tumor may have spontaneously regressed, possibly because of the CNB procedure. Follow-up without treatment was performed, and no recurrence occurred during 2 years after surgery. Conclusions Invasive ductal carcinoma may spontaneously regress after preoperative CNB.
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