Multiple gastrointestinal stromal tumors caused by a novel germline KIT gene mutation (Asp820Gly): a case report and literature review.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract; most of them have gain-of-function mutations of the KIT gene. There have been rare cases of families with multiple GISTs, that had autosomal dominant germline KIT mutations. Here, we present a case of multiple GISTs caused by a novel germline KIT mutation. Intraoperatively, the main tumor was present in the body of the stomach, and multiple small nodules were detected mainly in the upper and middle part of the gastric wall; several nodules were also present in the small bowel wall. The main tumor and surrounding nodules were resected. DNA sequencing of the tumor tissue, adjacent normal mucosal tissue, and peripheral blood leukocytes revealed that the patient had germline Asp820Gly mutation in exon 17 of the KIT gene. This is the first case with germline Asp820Gly mutation in exon 17 of the KIT gene.

Systemic steroid application for treatment of edematous anastomotic stenosis following delta-shaped anastomosis in laparoscopic distal gastrectomy: a case report.

BACKGROUND: Delta-shaped anastomosis is a common method of intracorporeal gastroduodenostomy in totally laparoscopic distal gastrectomy. One common postoperative complication of this procedure is anastomotic stenosis, and endoscopic balloon dilatation is a major remedy for such complications. Other treatment strategies are necessary to manage unsuccessful endoscopic balloon dilatation. CASE PRESENTATION: We present a case where systemic steroid treatment was applied in sustained anastomotic stenosis after endoscopic balloon dilatation. We performed delta-shaped anastomosis in laparoscopic distal gastrectomy to treat early-stage gastric cancer in a patient. The patient experienced abdominal pain post-surgery; subsequent investigation revealed edematous anastomotic stenosis. The stenosis sustained even after endoscopic balloon dilatation and local steroid injection. Consequently, we applied systemic steroid treatment. CONCLUSION: Systemic steroid treatment improved the stenosis and no recurrence was observed. These results suggest that systemic steroid application could be useful to treat anastomotic stenosis.

[A Case of Interstitial Pneumonitis Induced by TAS-102 for Liver and Lung Metastasis of Colorectal Cancer].

A 78-year-old man who developed metastatic liver and lung cancer after undergoing surgery for rectal and sigmoid colon cancer was treated with TAS-102 as fourth-line chemotherapy. He developed high fever and dyspnea and was referred to the emergency room 16 days after receiving the first course of TAS-102. Chest X-ray and computed tomography examinations showed bacterial pneumonia. He was treated with tazobactam/piperacillin, but developed severe dyspnea 4 days later. A diffuse ground-glass appearance was observed in both the lungs on chest X-ray examination, and drug-induced interstitial pneumonitis was suspected. Oxygenation and respiratory support were immediately administered, and steroid pulse therapy with methylprednisolone at 1,000mg/day was initiated. His symptoms and radiographic findings dramatically improved. The TAS102-J003 trial, a double-blind phase 2 trial, showed that interstitial pneumonitis occurs at a rate of only 0.9%, but can lead to severe complications, as observed in the present case. The possibility of interstitial pneumonitis should always be considered when a patient develops a fever and respiratory disorder during treatment containing TAS-102.

Breast neuroendocrine tumor arising in the axilla of a man: a case report.

BACKGROUND: Accessory breast carcinomas of the axilla of males are rare, and primary breast neuroendocrine tumors (BNETs) are rare as well. We present a case of a BNET arising in the axilla of a man. CASE PRESENTATION: A 64-year-old Japanese man presented with a hard 15-mm mass in the axilla and axillary lymph node swelling. Histopathological examination of the incisional biopsy specimen revealed a neuroendocrine carcinoma. Therefore, wide radical excision of the axillary tumor and axillary lymph node dissection were performed. Hematoxylin and eosin staining showed that the solid tumor was mainly located in the subcutaneous adipose tissues and appeared to invade the skin. The tumor phenotypes were positive for CAM 5.2, synaptophysin, estrogen receptor, progesterone receptor, and GATA-binding protein 3; they were negative for human epidermal growth receptor 2. The neuroendocrine component comprised more than 90% of the tumor, and the Ki-67 index was 21%. These results indicated that the tumor was a BNET. This patient underwent adjuvant chemotherapy, endocrine therapy, and radiotherapy. CONCLUSIONS: BNET cases in males are rare. The clinical and histological criteria as well as treatment for these rare cases are discussed.

Comparing the Incidences of Occult Contralateral Hernia under Laparo-Endoscopic Techniques and of Contralateral Metachronous Hernia after a Unilateral Groin Hernia Repair in Open Technique.

The aim of this study was to evaluate the utility of immediate repair of a contralateral occult hernia at the same time as incipient hernia repair. A total of 693 patients were diagnosed preoperatively with a unilateral groin hernia from January 2006 to December 2017. The open technique was used for 541 patients, and the laparo-endoscopic technique was used for 152 patients. The incidences of occult contralateral hernia confirmed during surgery under laparo-endoscopic techniques and those of contralateral metachronous hernia after a unilateral groin hernia repair with open technique were compared. Fifty-one (9.4%) of 541 patients underwent a contralateral metachronous hernia repair after unilateral groin hernia repair. Twenty-three (15.1%) of 152 patients had occult contralateral hernias using laparo-endoscopic techniques. There was a significant difference in the incidence of contralateral metachronous hernia and that of occult contralateral hernia (P = 0.02). It is concluded that finding and repairing an occult contralateral hernia at the time of laparo-endoscopic technique has the advantage of avoiding a second operation. However, it has been considered overtreatment to repair all patients with an occult contralateral hernia.

De-escalated neoadjuvant therapy with nanoparticle albumin-bound paclitaxel and trastuzumab for low-risk pure HER2 breast cancer.

PURPOSE: Neoadjuvant trastuzumab combined with anthracycline and taxane is now considered a standard regimen for human epidermal growth factor receptor 2 (HER2)-positive breast cancer. A less toxic, non-anthracycline regimen has been considered as a treatment option for patients with node-negative small tumors. Estrogen receptor-negative and HER2-positive (pure HER2) tumors are more likely to achieve a pathological complete response (pCR). This study evaluates the activity and safety of neoadjuvant nanoparticle albumin-bound paclitaxel (nab-PTX) plus trastuzumab for pure HER2 breast cancer in patients with low risk of relapse. METHODS: We treated patients with tumors measuring ≤ 3 cm, node-negative, pure HER2 breast cancer using neoadjuvant nab-PTX 260 mg/m2 with trastuzumab every 3 weeks for four cycles. The primary endpoint was the pCR rate. The secondary endpoints included the clinical response rate, disease-free survival, pathologic response rate (defined as pCR or minimal residual invasive disease only in the breast), breast-conserving surgery conversion rate, safety, and disease-free survival. Depending on the pathological findings of surgical specimens, the administration of adjuvant anthracycline could be omitted. RESULTS: Eighteen patients were enrolled. No patient required dose delays or reductions; none showed disease progression, and all patients underwent surgery as scheduled. Of the 18 patients, 66.7% achieved pCR, and the adjuvant anthracycline regimen was omitted for all patients. The incidence of severe adverse events was quite low. CONCLUSION: This less toxic, anthracycline-free regimen appears to be a significantly effective neoadjuvant therapy for patients with pure HER2 breast cancer at low relapse risk.