Fig. 5: Genotype–phenotype correlation. Most cases of pleomorphic and florid LCIS have the genetic hallmarks of the lobular phenotype, including 16q loss, 1q gain, and CDH1 mutations, as well as highly recurrent ERBB2 and/or ERBB3 alterations.

All cases with a florid growth pattern or apocrine features harbored the latter. Outlier cases included (1) HER2+ P-LCIS with a TP53 mutation and no 16q loss or 1q gain, and (2) ER+ P-LCIS that lacked a florid growth pattern, as well as CDH1 and ERBB2 or ERBB3 mutations. No other significant correlations were noted between genomic alterations and morphologic features or upgrade to malignancy. LCIS lobular carcinoma in situ, DCIS ductal carcinoma in situ, HR hormone receptor, HER2 human epidermal growth factor receptor 2.