Faculty Bibliography

Microglandular adenosis (MGA) is a rare breast lesion reported to be associated with invasive carcinoma in up to 20-30% of cases, and has been proposed as a non-obligate precursor to basal-like breast cancers. We identified a case of matrix-producing metaplastic carcinoma with morphologic and immunohistochemical evidence of progression from MGA to atypical MGA (AMGA), carcinoma in situ (CIS) and invasive carcinoma. We performed whole exome sequencing of each component (MGA, AMGA, CIS and cancer) to characterize the mutational landscape of these foci. There was significant copy number overlap between all foci, including a segmental amplification of the CCND1 locus (partial chromosome 11 trisomy) and MYC (8q24.12-13). Using a bioinformatics approach, we were able to identify three putative mutational clusters and recurrent, stop-gain non-synonymous mutations in both ZNF862 and TP53 that were shared across all foci. Finally, we identified a novel deleterious splice-acceptor site mutation of chr5:5186164G>T (chromosome 5p15) encoding the gene, ADAMTS16, in the invasive component.

BACKGROUND:Erythema elevatum diutinum (EED) is a rare vasculitis with variable clinical presentation which diagnosis can be challenging. Herein we want to describe the clinicopathological spectrum of findings in 5 cases of EED. PATIENTS AND METHODS/METHODS:We retrospectively analyzed 5 cases in a single institution collected over a period of 27 years. The clinical history was collected and all the slides were examined in order to determine the histopathological characteristics of the lesions. RESULTS:The mean age of our patients is 56.6 years. Two of five patients were females and with lesions showing predilection for the upper-extremities. The most common presentation was of an erythematous plaque on the extensor surfaces. Three patients had a history of neoplasm. All cases showed leukocytoclastic damage consistent with EED. CONCLUSION/CONCLUSIONS:Our findings suggest that EED shows a heterogeneous clinical and pathological presentation which can show an overlap with granulomatous dermatoses and mixed connective tissue diseases. Scalp lesions can occur and can mimic granulomatous dermatoses. The finding of EED in benign and malignant solid tumors in three of our patients begs the question whether there is an association between EED and such solid neoplasms.

Cutaneous metastases are not particularly common compared to metastases to other system organs, but they are an important entity to diagnose correctly given their prognostic implications. Clinically cutaneous metastases can mimic more common dermatologic disorders (e.g. cysts, adnexal tumors, lipomas, cellulitis, vascular tumors, etc.) that may result in diagnosis delay if not considered. An understanding of the clinical spectrum as well as advances in histopathologic assessment of skin metastases is vital to establish the correct diagnosis. Herein we review the clinical, histopathologic, and prognostic salient findings of three different types of cutaneous metastases: carcinomas, melanomas, and sarcomas. We also highlight important immunohistochemical studies and molecular platforms that assist in determining the primary site of origin and/or the line of differentiation.