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The case is a woman in her 70s with a history of colon and cervical cancer in her 40s. She had gastric cancer and breast cancer in her 70s. Her eldest son died of colon cancer in his 20s, and her eldest daughter had cervical cancer in her 40s. She was suspected to have Lynch syndrome and a genetic diagnosis was performed and then confirmed. Later she developed gastric cancer and ureteral cancer. We report a case of Lynch syndrome in which she developed seven cancers in five organs, all of which were early stage cancers.

A 68-year-old female with rectal cancer underwent low anterior resection with regional lymph node dissection. The final pathological diagnosis was Stage Ⅲa, and an adjuvant therapy(S-1)was provided for 6 months. One year after the surgery, an anastomotic recurrence was detected. Therefore, pelvic chemoradiotherapy with folinic acid and 5-fluorouracil(FL)was provided, and resection was performed with the Hartmann procedure. Following the second surgery, chemotherapy with bevacizumab(BV)and capecitabine plus oxaliplatin(CapeOX)was provided, and the patient showed no signs of recurrence for several years. However, lung metastasis appeared, which was resected. A year later, the patient underwent hepatectomy and radiofrequency ablation for liver metastasis. Another year later, she underwent lung resection again because of new lung metastasis. During the periods between the surgeries, various chemotherapy regimens were followed continuously, however, the patient died of progressive recurrence 8 years and 4 months after the initial surgery. Recurrences and distant metastases are poor prognostic factors for rectal cancers. However, combined effective chemotherapy and radiotherapy with surgery may improve the patient's chances of survival.

Background: FoundationOne CDx is a cancer genome profiling test that has already been approved by the FDA, but its clinical utility in Japanese patients is unknown. In this study, we examined the clinical utility of FoundationOne CDx., Methods: 46 samples from 43 Japanese pretreated patients with advanced solid tumors were tested with FoundationOne CDx between September 2018-January 2019., Results: The median age of 43 patients was 63 years(ranged 18 to 82 years), and among them 24 were males and 19 females. Major cancer types were hepato-biliary and pancreatic(8 cases)and other digestive organs(8 cases). All 27 cases in which genome cancer board had been completed by January 17, 2019 were analyzable, and the number of detected gene mutations(except VUS)was an average of 4.3(ranged 0 to 14)per case. Of the 27 cases, one or more mutations were found in 26 cases(96%), and in all such 26 cases actionable mutations with candidates for therapeutic agents were found. In 4(15%)of them, the treatment corresponding to the gene mutation was performed. Among the cases in which target disease matched and clinical trials of the drug were being conducted in Japan, only one case participated in the trial. The most common reason for not participating in the trial was disease deterioration and PS reduction (33%)., Conclusions: The FoundationOne CDx test showed that it can detect gene mutations in various cancer types in Japanese patients.

75 years old woman presented with 6-month history of progressive dropped head syndrome. Neurological examination revealed moderate weakness of flexor and extensor of neck and mild weakness of proximal appendicular muscles with normal deep tendon reflexes. The needle electromyography showed short duration and low amplitude motor unit potential. No fibrillation potentials or positive sharp waves were seen. Biopsy of deltoid muscle was normal. Laboratory studies showed elevated levels of serum calcium (11.8 mg/dl, upper limit of normal 10.1) and intact parathyroid hormone (104 pg/ml, upper limit of normal 65), and decreased level of serum phosphorus (2.3 mg/dl, lower limit of normal 2.7). Ultrasonography and enhanced computed tomography revealed a parathyroid tumor. The tumor was removed surgically. Pathological examination proved tumor to be parathyroid adenoma. Dropped head and weakness of muscles were dramatically improved within a week after the operation. Although hyperparathyroidism is a rare cause of dropped head syndrome, neurologists must recognize hyperparathyroidism as a treatable cause of dropped head syndrome.

The patient was a 61-year-old woman with a history of treatment for breast cancer. She had undergone left breast-conserving surgery and axillary lymph node dissection followed by radiation therapy for left breast cancer when she was 43 years old and later presented to our hospital with a chief complaint of a left breast ulcer with a messy exudate. Core needle biopsy (CNB)from the ulcer showed no malignancy. PET-CT showed low FDG uptake at the left breast and high FDG uptake at a contralateral axillary lymph node. CNB of a contralateral axillary lymph node showed metastasis of breast cancer. She underwent left mastectomy and right axillary lymph node dissection for local control. Ipsilateral breast tumor recurrence in the left breast and contralateral axillary metastases were identified in the final pathological findings. The patient was treated with FEC 100 and tri-weekly docetaxel and has been recurrence-free for 2 years after surgery.

We performed combined therapy with trastuzumab-vinorelbine for 6 HER2 positive metastatic breast cancer patients from which informed consent was obtained. As the initial dosage, we administered 4 mg/kg of trastuzumab, followed by a dosage of 2 mg/kg every week thereafter. At the same time, 25 mg/m2 of vinorelbine was administered for 2 weeks, followed by a week of rest. Total administration frequency of trastuzumab was 13-34 times (median: 27 times) and vinorelbine was 8-22 times (median: 17 times). A partial response was seen in 4 patients and no change in 2, for a response rate of 66%. A fixed period effect was recognized in each case, and the TTP was 112-274 days (median: 205 days). The side effects recognized were leukopenia of grade 3 in 1 patient, but she recovered during a withdrawal period. After that, continuous administration was possible. Trastuzumab-vinorelbine combined therapy expanded treatment alternatives for HER2 positive metastatic breast cancer patients and might prolong life.

We report the case of an 84-year-old woman with vulval extramammary Paget's disease associated with pancreatic cancer who was successfully treated. At first, biweekly low-dose FP (cisplatin 10 mg/body, 5-fluorouracil 250 mg/body) was administered by intravenous infusion. Next, we attempted a regimen of gemcitabine (1,000 mg/body) was administered weekly by intravenous infusion. As a result, the size of the pruritic lesion of the vulva was reduced more than 50%, and the serum level of CA19-9 decreased clearly. These treatments would be a valid option in certain cases of pancreas cancer and extramammary Paget's disease.

TS-1, a novel oral formation of 5-fluorouracil, consists of tegafur (5-FU), CDHP and Oxo. Low-dose cisplatin (CDDP) and TS-1 was evaluated in 12 patients with advanced or recurrent gastric cancer. CDDP was given biweekly at a dose of 15 mg/m2 infused for 30 minutes, and 80 mg/body of TS-1 was orally administered as many times as possible. The response rate was 41.7%. Median survival time was 13.3 months. In one case, an adverse reaction of grade 3 leucopenia was observed. Thus, thought it is necessary to watch for leucopenia, this chemotherapy could well be effective for patients with advanced or recurrent gastric cancer.

Biweekly intravenous infusions of low-dose cisplatin (CDDP) and 5-fluorouracil (5-FU) were evaluated in 80 patients with advanced or recurrent gastric, colorectal, pancreatic or gallbladder adenocarcinoma. CDDP was given biweekly at a dose of 15 mg/m2 infused for 30 minutes, and 5-FU 375 mg/m2 was infused for 2 hours as many times as possible. The response rate among patients with gastric cancer was 26%, colorectal cancer 10%, pancreatic cancer 7.7%, and gallbladder cancer 42.9%. The response rates were not so high, but the median survival time of patients with recurrent gastric cancer was 17.3 months, pancreatic cancer 6.7 months, and gallbladder cancer 10.7 months. A patient with unresected advanced pancreatic head cancer with liver and para-aortic lymph node metastases received this therapy 38 times, and lived for 54 months. No severe side effects occurred in any of these cases. Thus, this chemotherapy could well be effective for the outcome of cases of advanced gastrointestinal carcinoma.