Artificial intelligence for basal cell carcinoma: diagnosis and distinction from histological mimics.

We trained an artificial intelligence (AI) algorithm to identify basal cell carcinoma (BCC), and to distinguish BCC from histological mimics. A total of 1061 glass slides were collected: 616 containing BCC and 445 without BCC. BCC slides were collected prospectively, reflecting the range of specimen types and morphological variety encountered in routine pathology practice. Benign and malignant histological mimics of BCC were selected prospectively and retrospectively, including cases considered diagnostically challenging for pathologists. Glass slides were digitally scanned to create a whole slide image (WSI), which was divided into patches representing a tissue area of 65,535 µm2. Pathologists annotated the data, yielding 87,205 patches labelled BCC present and 1,688,697 patches labelled BCC absent. The COMPASS model (COntext-aware Multi-scale tool for Pathologists Assessing SlideS) based on Convolutional Neural Networks, was trained to provide a probability of BCC being present at the patch level and the slide level. The test set comprised 246 slides, 147 of which contained BCC. The COMPASS AI model demonstrated high accuracy, classifying WSIs as containing BCC with a sensitivity of 98.0% and a specificity of 97.0%, representing 240 WSIs classified correctly, three false positives, and three false negatives. Using BCC as a proof of concept, we demonstrate how AI can account for morphological variation within an entity, and accurately distinguish from histologically similar entities. Our study highlights the potential for AI in routine pathology practice.

An Atypical Deep Penetrating Nevus With Mutations in Beta Catenin , BRAFV600E , and IDH1R132C in an 8-Year-Old Boy.

ABSTRACT: Deep penetrating nevus (DPN) is a pigmented melanocytic tumor which typically displays a wedge-shaped deep penetrating architecture. Some cases show a coexisting component resembling conventional melanocytic nevus. These morphological attributes are correlated with the acquisition of genomic alterations in the Wnt pathway on a background of underlying activating MAPK pathway mutations. Lesions with features of DPN, but displaying expansile architecture, sheet-like arrangement of cells, cytological atypia, and/or more than rare mitotic activity have been described as "atypical deep penetrating nevus" or "deep penetrating melanocytoma." The molecular correlates of these atypical morphological features are not well-established. In this case report, we describe a tumor in an 8-year-old boy with histological features of atypical DPN showing somatic BRAFV600E , beta catenin , and IDH1R132C mutations. The combination of abnormalities in MAPK and Wnt pathways with IDH1 mutations seems to be a reproducible feature in a subset of atypical DPNs. Whether this "three-hit" combination is associated with a significant risk of adverse outcome remains to be established.

Synchronous bilateral breast cancer: A case report of heterogeneous estrogen receptor status.

INTRODUCTION: Tumour heterogeneity is important in the management of breast cancer. Hormone receptors are established biomarkers for treatment and prognosis of patients with breast cancer. There are three immunohistochemical biomarkers: estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor 2 (HER2). We explore whether heterogeneity in hormone receptor status in synchronous bilateral breast alters therapeutic management. CASE PRESENTATION: This case details a 54 year old woman who was referred to our clinic by her general practitioner for investigation of bilateral breast pain that she had for 6 months. On clinical examination pathological nodes were palpated in bilateral axilla. There was left sided nipple inversion with a palpable mass in the upper outer quadrant of approximately 3 cm diameter. On examination of the right breast there was skin tethering of the nipple and 3 masses were palpated, the largest being in the upper inner quadrant at 5 cm diameter. Ultrasound and mammography of bilateral breasts demonstrated advanced bilateral breast cancer with axillary node metastases. Core biopsies demonstrated invasive carcinoma. The right breast lesion was ER negative whilst the left breast lesion was ER positive. DISCUSSION: In patients with synchronous bilateral breast cancer ER discordance in patients have been associated with higher mortality than ER concordant positive patients and lower mortality than ER concordant negative patients within the first 5 years of surveillance [1]. CONCLUSION: Heterogeneity in hormone receptor status alters the therapeutic management of patients with synchronous bilateral breast cancer. Both hormone therapy and chemotherapy should be considered in these patients. It is of utmost importance to evaluate the tumor receptor status in cases of synchronous bilateral breast tumour and to assess for change in relation to tumour progression or treatment. Further study in the status change of receptors could open up new treatment modalities.