Breast Carcinoma With Tubulopapillary Features Has a Distinct Immunophenotypic and Molecular Signature: A Report of Two Tumors and Literature Review

• Published in: International journal of surgical pathology Vol. 32; no. 5; p. 1037
• Main Authors: Carrasco-Tenezaca, Felipe, Moreira-Dinzey, Jennifer, Manrai, Padmini A, Bearse, Mayara, Burela, Sneha, Podany, Peter, Singh, Kamaljeet, Pareja, Fresia, Zheng, Jennifer, Muscato, Nicole E, Liang, Yuanxin, Zhan, Haiying, Krishnamurti, Uma, Dolezal, Darin, Wang, Jianhui, Harigopal, Malini
• Format: Journal Article
• Language: English
• Published: United States 01.08.2024
• Subjects: Adult; Aged; Biomarkers, Tumor - analysis; Biomarkers, Tumor - genetics; Biomarkers, Tumor - metabolism; Breast - pathology; Breast - surgery; Breast Neoplasms - diagnosis; Breast Neoplasms - genetics; Breast Neoplasms - pathology; Cyclin-Dependent Kinase Inhibitor p16 - genetics; Cyclin-Dependent Kinase Inhibitor p16 - metabolism; Female; Humans; Immunophenotyping; SOXE Transcription Factors - analysis; SOXE Transcription Factors - genetics; SOXE Transcription Factors - metabolism; Tumor Suppressor Protein p53 - genetics; Tumor Suppressor Protein p53 - metabolism; targeted sequencing; high-grade breast carcinoma; p16; SOX10; tubulopapillary features; papillary carcinoma
• ISSN: 1940-2465
• DOI: 10.1177/10668969231209780

Breast carcinoma with tubulopapillary features is a newly described entity associated with poor prognosis with only 14 tumors reported in the literature. We report 2 additional tumors and identify novel immunohistochemical and molecular features of the tumor. The first tumor was from a 72-year-old woman with nonmetastatic breast carcinoma and the second was from a 32-year-old woman with metastatic breast carcinoma who received neoadjuvant therapy. Both tumors had high-grade nuclear features with a distinctive morphology characterized by infiltrating open glands with intratubular papillary and micropapillary projections in >90% of the invasive carcinoma. In addition to the usual predictors of aggressive behavior, both tumors showed a high expression of p16 and SOX10, which has not been previously described. Targeted tumor sequencing revealed pathogenic variants of in both tumors, in agreement with previous reports. Prior studies have shown a correlation between p16 and SOX10 expression with high-grade features and worse prognosis; typically seen in triple-negative carcinomas as demonstrated in both of our tumors. However, not all reported tumors of breast carcinoma with tubulopapillary features have demonstrated a triple-negative profile as there are a few reports of tumors with estrogen receptor and/or human epidermal growth factor 2 expression. Due to their distinct morphologic and molecular characteristics, breast carcinoma with tubulopapillary features may represent a new breast cancer histologic subtype.