Germline variant of BRCA1 c.5332G>A has clinical features of hereditary breast and ovarian cancer syndrome.

The proband was a 39-year-old Japanese woman with stage I triple negative breast cancer. Germline BRCA1 and BRCA2 genetic testing revealed the presence of a BRCA1 c.5332G>A (p.Asp1778Asn) variant classified as a VUS in the heterozygous state. She underwent curative surgery and adjuvant chemotherapy for her TNBC, but no intensive follow-up or risk-reducing surgery was performed in contrast to normal practice in a patient with hereditary breast and ovarian cancer syndrome. At postoperative 2 years 6 months, elevation of CA15-3 led to the diagnosis of Stage III high-grade serous ovarian cancer. Studies and information in public databases at the time of the patient's genetic testing showed only VUS results for c.5332G>A; within the next few years, one pathogenic and one likely pathogenic result were confirmed. Thus, according to a joint consensus recommendation of the ACMG/AMP, c.5332G>A is considered 'likely pathogenic'. The public database should be checked regularly for VUS results, and practical management should be considered if reliable likely pathogenic or pathogenic reports were added.

Short- and long-term outcomes of immediate breast reconstruction surgery after neoadjuvant chemotherapy.

PURPOSE: Immediate breast reconstruction (IBR) is a standard option for breast cancer patients, although its utility in patients with advanced breast cancer requiring neoadjuvant chemotherapy (NAC) is debatable. We assessed the short-term complications and long-term prognosis of IBR after NAC. METHODS: We retrospectively analyzed 1135 patients with IBR and/or NAC between 2010 and 2018, 43 of whom underwent IBR after NAC. RESULTS: Twenty-five patients underwent reconstruction with a tissue expander (TE) followed by silicon breast implantation, 5 with a latissimus dorsi muscle transfer flap, and 13 with a deep inferior epigastric perforator flap. Complete surgical resection with a free margin confirmed by a pathological assessment was achieved in all patients. The evaluation of the short-term complications indicated no cases of total flap necrosis, two cases of partial flap necrosis, and one case of wound infection. Only one case required postponement of subsequent therapy due to partial flap necrosis. A long-term evaluation indicated no local recurrence, although distant metastasis was observed in 4 cases, 3 patients died, and TE removal after post-mastectomy radiotherapy (PMRT) was performed in 2 of 11 TE cases. CONCLUSION: IBR may be a viable option in patients with advanced breast cancer who achieve complete surgical resection after NAC.

Feasibility of Portable Microwave Imaging Device for Breast Cancer Detection.

PURPOSE: Microwave radar-based breast imaging technology utilizes the principle of radar, in which radio waves reflect at the interface between target and normal tissues, which have different permittivities. This study aims to investigate the feasibility and safety of a portable microwave breast imaging device in clinical practice. MATERIALS AND METHODS: We retrospectively collected the imaging data of ten breast cancers in nine women (median age: 66.0 years; range: 37-78 years) who had undergone microwave imaging examination before surgery. All were Japanese and the tumor sizes were from 4 to 10 cm. Using a five-point scale (1 = very poor; 2 = poor; 3 = fair; 4 = good; and 5 = excellent), a radiologist specialized in breast imaging evaluated the ability of microwave imaging to detect breast cancer and delineate its location and size in comparison with conventional mammography and the pathological findings. RESULTS: Microwave imaging detected 10/10 pathologically proven breast cancers, including non-invasive ductal carcinoma in situ (DCIS) and micro-invasive carcinoma, whereas mammography failed to detect 2/10 breast cancers due to dense breast tissue. In the five-point evaluation, median score of location and size were 4.5 and 4.0, respectively. CONCLUSION: The results of the evaluation suggest that the microwave imaging device is a safe examination that can be used repeatedly and has the potential to be useful in detecting breast cancer.

Virtual Interpolation Images of Tumor Development and Growth on Breast Ultrasound Image Synthesis With Deep Convolutional Generative Adversarial Networks.

OBJECTIVES: We sought to generate realistic synthetic breast ultrasound images and express virtual interpolation images of tumors using a deep convolutional generative adversarial network (DCGAN). METHODS: After retrospective selection of breast ultrasound images of 528 benign masses, 529 malignant masses, and 583 normal breasts, 20 synthesized images of each were generated by the DCGAN. Fifteen virtual interpolation images of tumors were generated by changing the value of the input vector. A total of 60 synthesized images and 20 virtual interpolation images were evaluated by 2 readers, who scored them on a 5-point scale (1, very good; to 5, very poor) and then answered whether the synthesized image was benign, malignant, or normal. RESULTS: The mean score of overall quality for synthesized images was 3.05, and that of the reality of virtual interpolation images was 2.53. The readers classified the generated images with a correct answer rate of 92.5%. CONCLUSIONS: A DCGAN can generate high-quality synthetic breast ultrasound images of each pathologic tissue and has the potential to create realistic virtual interpolation images of tumor development.

Efficient Anomaly Detection with Generative Adversarial Network for Breast Ultrasound Imaging.

We aimed to use generative adversarial network (GAN)-based anomaly detection to diagnose images of normal tissue, benign masses, or malignant masses on breast ultrasound. We retrospectively collected 531 normal breast ultrasound images from 69 patients. Data augmentation was performed and 6372 (531 × 12) images were available for training. Efficient GAN-based anomaly detection was used to construct a computational model to detect anomalous lesions in images and calculate abnormalities as an anomaly score. Images of 51 normal tissues, 48 benign masses, and 72 malignant masses were analyzed for the test data. The sensitivity, specificity, and area under the receiver operating characteristic curve (AUC) of this anomaly detection model were calculated. Malignant masses had significantly higher anomaly scores than benign masses (p < 0.001), and benign masses had significantly higher scores than normal tissues (p < 0.001). Our anomaly detection model had high sensitivities, specificities, and AUC values for distinguishing normal tissues from benign and malignant masses, with even greater values for distinguishing normal tissues from malignant masses. GAN-based anomaly detection shows high performance for the detection and diagnosis of anomalous lesions in breast ultrasound images.

Detection and Diagnosis of Breast Cancer Using Artificial Intelligence Based assessment of Maximum Intensity Projection Dynamic Contrast-Enhanced Magnetic Resonance Images.

We aimed to evaluate an artificial intelligence (AI) system that can detect and diagnose lesions of maximum intensity projection (MIP) in dynamic contrast-enhanced (DCE) breast magnetic resonance imaging (MRI). We retrospectively gathered MIPs of DCE breast MRI for training and validation data from 30 and 7 normal individuals, 49 and 20 benign cases, and 135 and 45 malignant cases, respectively. Breast lesions were indicated with a bounding box and labeled as benign or malignant by a radiologist, while the AI system was trained to detect and calculate possibilities of malignancy using RetinaNet. The AI system was analyzed using test sets of 13 normal, 20 benign, and 52 malignant cases. Four human readers also scored these test data with and without the assistance of the AI system for the possibility of a malignancy in each breast. Sensitivity, specificity, and area under the receiver operating characteristic curve (AUC) were 0.926, 0.828, and 0.925 for the AI system; 0.847, 0.841, and 0.884 for human readers without AI; and 0.889, 0.823, and 0.899 for human readers with AI using a cutoff value of 2%, respectively. The AI system showed better diagnostic performance compared to the human readers (p = 0.002), and because of the increased performance of human readers with the assistance of the AI system, the AUC of human readers was significantly higher with than without the AI system (p = 0.039). Our AI system showed a high performance ability in detecting and diagnosing lesions in MIPs of DCE breast MRI and increased the diagnostic performance of human readers.

[Assessment for Local Treatment for Elderly Breast Cancer Cases].

The number of elderly breast cancer patients has been increasing recently nevertheless the optimal treatment for the elderly breast cancer patients still remains controversial. In this study, 21 primary breast cancer cases who were equal or older than 85 years old at our hospital were examined their clinical and pathological features. These 21 cases were divided into 2 group; Group A; ten cases who received operations, Group B; eleven cases who did not receive operations. T categories, M categories and clinical stages in Group B were significantly higher than those of Group A. The main causing reason why Group B cases had not received operations was that their primary breast cancer were too advanced to perform operation. Instead of operation, most Group B cases received endocrine therapy or radiotherapy. Group A cases received standard operative procedures including partial or total mastectomy and biopsies or dissection of axillary lymph nodes. Besides, their post- operative courses were good and safe. These results suggest that even for elderly patients, early diagnosis and treatment could improve their prognosis and quality of life. In addition, careful surveillances for elderly breast cancer patients, those who tend to stop attending regular check up to their hospital, should be considered for further assessment for characteristics of elderly breast cancer patients.

[A Case of Synchronous Double Lung Cancer Including Intestinal Adenocarcinoma Complicated with Colonic Adenoma].

The patient was a 73-year-old man who was referred to our hospital for increasing bilateral lung nodules. Video-assisted left S9-10 segmentectomy and right S1, S3 partial resection were performed separately for suspect of synchronous double lung cancer. Colonoscopy was performed because left lung tumor was difficult to distinguish between primary lung cancer and metastatic lung cancer. Colonoscopy did not find advanced cancer lesion. We diagnosed the left lung tumor as pT1b, cN0, cM0, Stage ⅠA2 intestinal adenocarcinoma. The right lung tumor was diagnosed as pT1c, cN0, cM0, Stage ⅠA3 papillary adenocarcinoma. Intestinal adenocarcinoma is a rare tissue subtype of lung adenocarcinoma and colonoscopy is useful modality for ruling out metastatic colorectal cancer.

[A Case of Ipsilateral Breast Cancer with Contralateral Axillary Node Recurrence after Right Breast Partial Mastectomy].

A female patient who was in her 50s visited our hospital complaining right breast tumor, 18 years after her right breast- conserving partial mastectomy with right axillary lymph nodes dissection. Ultrasonography revealed a right breast tumor and an enlarged lymph node at left axilla. Core needle biopsy(CNB)from the right breast tumor showed the recurrence of her breast cancer and fine-needle aspiration(FNA)from her left axillary lymph node showed Class Ⅴ. We concluded the recurrence of right breast cancer with left axillary metastasis. After neoadjuvant chemotherapy, she underwent right mastectomy and left axillary lymph node dissection. When the recurrence of residual breast is seen, the contralateral axillary lymph node might become a new sentinel lymph node.

Breast Ultrasound Image Synthesis using Deep Convolutional Generative Adversarial Networks.

Deep convolutional generative adversarial networks (DCGANs) are newly developed tools for generating synthesized images. To determine the clinical utility of synthesized images, we generated breast ultrasound images and assessed their quality and clinical value. After retrospectively collecting 528 images of 144 benign masses and 529 images of 216 malignant masses in the breasts, synthesized images were generated using a DCGAN with 50, 100, 200, 500, and 1000 epochs. The synthesized (n = 20) and original (n = 40) images were evaluated by two radiologists, who scored them for overall quality, definition of anatomic structures, and visualization of the masses on a five-point scale. They also scored the possibility of images being original. Although there was no significant difference between the images synthesized with 1000 and 500 epochs, the latter were evaluated as being of higher quality than all other images. Moreover, 2.5%, 0%, 12.5%, 37.5%, and 22.5% of the images synthesized with 50, 100, 200, 500, and 1000 epochs, respectively, and 14% of the original images were indistinguishable from one another. Interobserver agreement was very good (|r| = 0.708-0.825, p < 0.001). Therefore, DCGAN can generate high-quality and realistic synthesized breast ultrasound images that are indistinguishable from the original images.

[A Case of Locally Advanced Breast Cancer Successfully Treated with Epirubicin/Cyclophosphamide].

A 66-year-old woman was referred to our hospital with the chief complaint of a huge exposed left breast mass with bleeding. Triple-negative invasive ductal carcinoma of the breast was diagnosed by core needle biopsy. Computed tomogra- phy showed axillary and infraclavicular lymph node metastases. Epirubicin/cyclophosphamide(EC)therapy was started. We reduced the dose to 80%during courses 2-4. After 4 courses of treatment, CT showed a complete response. We reduced the dose to 50% during courses 5-12 and stopped chemotherapy. Five years have passed without recurrence since the first treatment.

[A Case of Appendiceal Neuroendocrine Tumor Diagnosed after Appendectomy].

A 25-year-old woman visited our hospital with a complaint of right lower abdominal pain. As a result of the examination, she was diagnosed as having acute appendicitis. After conservative treatment, we planned an elective surgery. At 3 months after discharge, laparoscopic appendectomy was performed. We found a mass of 10mm in diameter at the body of the appendix. Histopathological examination revealed the proliferation of heteromorphic cells with small round nuclei. It was positive for chromogranin A and synaptophysin in immunostaining, so we made a diagnosis of NET G1. Tumor cells infiltrated beyond the intrinsic muscle layer, but no vascular invasion was observed, and the margin was negative. In accordance with the guidelines, we followed up the patient with imaging examination and did not find any signs of recurrence.

[A Case of Pancreatic Neuroendocrine Carcinoma Presenting Multiple Liver Metastasis as an Initial Manifestation for Which Diagnosis Confirmation Was Difficult].

A 67-year-old woman with a history of esophageal cancer(poorly-differentiated squamous cell carcinoma, pStageⅡ) was diagnosed with 2 liver tumors by regular checkup CT 10 years after her operation. We also observed elevated levels of tumor marker CEA. The tumors were suspected to be metastatic although no primary lesion was identified. We performed partial hepatectomy for diagnostic therapy. The pathological diagnosis was adenocarcinoma suggestive of metastatic tumors but the primary lesion remained unknown. Tumor marker levels were elevated 2 months after the operation and we detected a pancreatic tumor, multiple liver tumors, peritoneal dissemination, and para-aortic lymph node metastasis. Therefore, our clinical diagnosis was multiple metastases with primary pancreatic cancer and chemotherapy was performed. We conducted a thorough review of the diagnostic images and repeated the pathological analysis. Immunobiological staining showed that the tumor cells were positive for neuroendocrine markers such as chromogranin A, CD56, and Ki-67. We eventually diagnosed the liver tumors as metastasis from the pancreatic neuroendocrine carcinoma(Grade 3).

[Assessment of Prognosis after Surgical Treatment for Colorectal Liver Metastasis Using a Nomogram].

A nomogram is a statistical tool that can provide the specific outcomes of individual patients. In this study, we used a nomogram developed by Beppu et al to evaluate the prognoses of 38 patients who underwent hepaticresec tion at our hospital. This nomogram predicts disease-free survival(DFS)after hepatic resection for colorectal liver metastasis based on 6 clinical and oncological factors. Using this nomogram, we divided the 38 patients into 3 groups: Group N, actual DFS was almost similar to the estimated median DFS(EMDFS)provided by the nomogram; Group A, DFS was longer than EMDFS; and Group B, DFS was shorter than EMDFS. Then, we compared and analyzed clinical and oncological factors between Groups A and B. Group B patients tended to have single metastasis and non-normal levels of CA19-9. Besides, Group B patients had DFS shorter than approximately 2 years. These results suggest that if CA19-9 levels are not normalized after hepaticresec tion for single metastasis, we should consider careful observation and adjuvant chemotherapy for potential micrometastasis.

[Laparoscopic Gastrectomy for Gastric Adenocarcinoma of the Fundic Gland Type - Report of a Case].

A 69-year-old man underwent esophagogastroduodenoscopy, which showed a slightly depressed lesion at the greater curvature of the gastric body. We diagnosed gastric adenocarcinoma of the fundic gland type(GA-FG)from examination of the biopsy specimen. Endoscopic submucosal dissection(ESD)was performed for curative resection. The pathological examination revealed a positive vertical margin. Consequently, laparoscopic gastrectomy was additionally performed. GA-FG has recently been proposed as a new entity of gastric adenocarcinoma. GA-FG mostly develops without Helicobacter pylori infection and often invades the submucosa, regardless of size. However, GA-FG rarely demonstrates lymphatic and venous invasion despite deep submucosal invasion. Since most GA-FG cases undergo ESD, few reports of surgical resection exist. Here, we report our experience of laparoscopic gastrectomy for GA-FG.