Clinical value of radiomics and machine learning in breast ultrasound: a multicenter study for differential diagnosis of benign and malignant lesions.

OBJECTIVES: We aimed to assess the performance of radiomics and machine learning (ML) for classification of non-cystic benign and malignant breast lesions on ultrasound images, compare ML's accuracy with that of a breast radiologist, and verify if the radiologist's performance is improved by using ML. METHODS: Our retrospective study included patients from two institutions. A total of 135 lesions from Institution 1 were used to train and test the ML model with cross-validation. Radiomic features were extracted from manually annotated images and underwent a multistep feature selection process. Not reproducible, low variance, and highly intercorrelated features were removed from the dataset. Then, 66 lesions from Institution 2 were used as an external test set for ML and to assess the performance of a radiologist without and with the aid of ML, using McNemar's test. RESULTS: After feature selection, 10 of the 520 features extracted were employed to train a random forest algorithm. Its accuracy in the training set was 82% (standard deviation, SD, ± 6%), with an AUC of 0.90 (SD ± 0.06), while the performance on the test set was 82% (95% confidence intervals (CI) = 70-90%) with an AUC of 0.82 (95% CI = 0.70-0.93). It resulted in being significantly better than the baseline reference (p = 0.0098), but not different from the radiologist (79.4%, p = 0.815). The radiologist's performance improved when using ML (80.2%), but not significantly (p = 0.508). CONCLUSIONS: A radiomic analysis combined with ML showed promising results to differentiate benign from malignant breast lesions on ultrasound images. KEY POINTS: • Machine learning showed good accuracy in discriminating benign from malignant breast lesions • The machine learning classifier's performance was comparable to that of a breast radiologist • The radiologist's accuracy improved with machine learning, but not significantly.

A new case of radiation-induced breast angiosarcoma.

INTRODUCTION: Radiation-induced breast angiosarcoma is a severe but rare late complication in the breast-preserving management of breast cancer through surgery and radiotherapy. Often the initial diagnosis is complex given its relatively anodyne nature and the fact that it usually presents in the form of typically multifocal reddish-purple papular skin lesions. PRESENTATION OF THE CASE: We describe the clinical and pathologic findings of a 79-year-old woman, who developed a radiation-induced breast angiosarcoma after around 8 years. She initially refused a mastectomy leading to an adaptation in the management of this cancer. DISCUSSION: The average latency of secondary angiosarcoma of the breast following radiation therapy is around six years. Breast angiosarcoma is typically considered to affect the dermis, and is therefore cutaneous in origin. An incisional biopsy of the discoloured skin and underlying mass is necessary. The treatment is surgical resection. The role of chemotherapy has not been clearly defined. Most data originate from retrospective case series studies suggesting that angiosarcomas are relatively sensitive to taxanes and anthracyclines. CONCLUSION: The preferred treatment is always aggressive surgical removal and, as our atypical clinical case suggests, neoadjuvant chemotherapy in very high doses is also needed. A biopsy of any suspicious breast skin lesion after radiotherapy is recommended. Despite the treatment challenges, our case provides enlightening details on the management of such a rare cancer even when faced with unplanned events which do not always allow for a textbook approach.

Fine-needle cytology in the follow-up of breast carcinoma.

The postoperative follow-up strategies for breast carcinoma (BC) utilize different procedures; the aim of this study was to investigate the role of fine-needle cytology (FNC) in the follow-up of BC patients. Two hundred sixty-six FNC samples from 190 BC patients have been reviewed. The target anatomical sites were 190 breast including 155 ipsilateral and 145 contralateral breast lesions and 76 extra-mammary nodules. Extra-mammary lesions included lymph nodes, thyroidal nodules, soft tissue lesions, (subcutaneous and sub-scars), salivary glands and deep located masses. Diagnostic distribution of the breast lesions was as follows: 51 positive, 15 indeterminate/suspicious, 119 negative and 5 inadequate. Positive cases included 43 ipsilateral and 8 contralateral BC, 9 BC in different quadrants from those of onset of the first BC. Sensitivity, specificity and accuracy have been 90, 91 and 90&, respectively. FNC, in a correct setting, is a reliable and effective method for the follow-up management of BC patients.

Use of FTA cards for the storage of breast carcinoma nucleic acid on fine-needle aspiration samples.

BACKGROUND: The preservation and storage of nucleic acids is important for DNA molecular techniques. The material obtained by fine-needle aspiration (FNA) is often scanty and can not be wasted. FTA cards are filter papers that immobilize and stabilize nucleic acids and can be stored at room temperature. The current study evaluated whether nucleic acids of breast carcinoma cells, obtained by FNA in a clinical setting, may be collected, stored, and preserved on FTA cards. METHODS: Thirty breast carcinoma, 5 non-Hodgkin lymphoma (NHL), and 5 benign reactive lymph node (RLN) cell samples obtained by FNA were stored at -80 °C and on FTA cards. DNA extraction and polymerase chain reaction were performed on cells at -80 °C and on 2 punched disks of FTA cards. Fifty nanograms of extracted DNA from both sample types were used to amplify the Janus Kinase 2 (JAK2) gene. RESULTS: The mean value of DNA extracted from breast carcinoma cells was 28.19 ng/µL for that stored at -80 °C and 3.28 ng/µL for that stored on FTA cards. Agarose gel analysis demonstrated expected bands of DNA in 29 cases (97%) with both methods. The mean value of DNA extracted from NHL and RLN samples was 37.54 ng/µL and 4.28 ng/µL, respectively, and agarose gel analysis demonstrated bands of high molecular weight DNA in both methods. Significant differences in DNA yield were found between storage at -80 °C and FTA cards (P<.0001), but no differences were detected between 260/280 nm ratios in breast carcinoma and NHL/RLN samples. CONCLUSIONS: FTA cards can be conveniently used for the storage of breast carcinoma cells obtained by FNA, thus providing a reliable alternative to traditional methods.

Discordance rate of HER2 status in primary breast carcinomas versus synchronous axillary lymph node metastases: a multicenter retrospective investigation.

BACKGROUND: Human epidermal growth factor receptor 2 (HER2) is considered to be a therapeutic and prognostic marker in the management of breast carcinoma (BC), although discordance rates between primary and metastatic or locally recurrent lesions have been reported. METHODS: One hundred and forty-eight paraffin-embedded BC tissues from patients of mean age 59.27 (33-96) years and corresponding synchronous lymph node metastases were collected and retrospectively studied using immunohistochemistry and fluorescence in situ hybridization to evaluate HER2 status. Fleiss-Cohen weighted k statistics were used to assess the concordance rate between HER2 status of the primary BC and the synchronous metastatic lesions. RESULTS: The overall concordance rate for HER2 was 95.28%. Eighty-nine cases were concordantly HER2-negative in primary BC and nodal metastases, and 52 cases were HER2-positive in both primary and metastatic tumors. Changes in HER2 status between primary BC and corresponding synchronous metastases were observed in seven (4.72%) cases. Three of the discordant cases were HER2-negative in the primary tumor and HER2-positive in the metastases, while four cases were HER2-positive in the primary BC and HER2-negative in the metastases. No significant correlations were identified between HER2 status and expression of hormone receptors, growth fraction (Ki-67), or other histopathological parameters (pT, pN, grade). CONCLUSION: Simultaneous determination of HER2 in BC and corresponding metastatic lymph nodes is not mandatory, but may strongly influence the therapeutic management. It was demonstrated that loss of HER2 amplification results in worse post-relapse survival and overall survival in BC patients and, on the other hand, a gain in HER2 expression in metastatic lymph nodes of BC may allow the possibility of a targeted treatment. Thus, our opinion is that significant prognostic information may be obtained by simultaneous assessment of HER2 status in both primary and synchronous metastatic BC.

Osteosarcoma of the larynx: a case report.

BACKGROUND: We add a new rare illustrative case of osteosarcoma of the larynx to the literature. CASE PRESENTATION: The patient (man; 56 years old) first underwent several biopsies, followed in the end by a total laryngectomy. Diagnosis was histological. The patient developed regional and distant metastases and died of disease after 3 months from surgery. CONCLUSION: Osteosarcoma of the larynx is a rare and aggressive tumour with a poor long-term prognosis. The preferred treatment for this tumour is aggressive surgery.To perform a diagnosis we must be in presence of osteoid or of neoplastic osseous tissue directly produced by the neoplastic cells.