Germline BRCA2 Pathogenic Variant in Primary Breast Cancer of a Down Syndrome Individual.

BACKGROUND Down syndrome (DS) is the most common genetic disorder, and individuals with DS are known to have a low risk for solid tumors, including breast cancer. In contrast, Breast Cancer Susceptibility Gene (BRCA) pathogenic variant can cause breast cancer. We report a case of primary breast cancer harboring a BRCA2 pathogenic variant in a 35-year-old woman with DS. CASE REPORT A 35-year-old woman with DS presented with a palpable 2-cm mass in the upper-inner quadrant of the left breast. A biopsy confirmed an invasive ductal carcinoma of the breast. Her clinical diagnosis was cT2, N0, M0, cStageIIA. A left modified radical mastectomy with axillary node dissection was performed. Her final pathological diagnosis was invasive ductal carcinoma (T2, pN1, M0, stageIIB), positive estrogen receptors, negative progesterone receptors, negative human epidermal receptor-2 status. She was started on adjuvant hormonal therapy. Unfortunately, 23 months after the operation, multiple metastases were detected. Testing for a BRCA pathogenic variant was performed, and a BRCA2 pathogenic variant was detected. Olaparib was orally administered, and the levels of tumor markers rapidly declined; however, the levels of the tumor markers started to increase again 5 months after the initiation of olaparib. Subsequently, she developed bilateral carcinomatous lymphangiomatosis and died 59 months after the operation. CONCLUSIONS This report highlights a rare case of primary breast cancer harboring a germline BRCA2 pathogenic variant in an individual with DS. Our study highlights the importance of genetic testing as part of breast cancer management in these patients.

Malignant pleural effusion in breast cancer 12 years after mastectomy that was successfully treated with endocrine therapy.

Patient: Female, 94 Final Diagnosis: Malignant pleural effusion Symptoms: - Medication: - Clinical Procedure: Cytology Specialty: Oncology. OBJECTIVE: Unusual clinical course. BACKGROUND: The most common site of postoperative breast cancer recurrence is bone, followed by local relapse, lung, and liver. The majority of relapses occur within the first 3 years after surgery. Pleural recurrences more than 10 years after surgery are rare. CASE REPORT: A 94-year-old woman who had undergone modified radical mastectomy for right breast cancer (invasive ductal carcinoma, pT2, pN1, ER+, PgR+) 12 years earlier presented to our hospital with carcinomatous pleuritis and a chief complaint of dyspnea. Endocrine therapy with oral letrozole was started and the pleural effusion had disappeared 3 months later. CONCLUSIONS: Oral endocrine therapy may be effective for the treatment of late recurrence of hormon receptor-positive breast cancer in elderly women.

Pneumocystis pneumonia during Postoperative Adjuvant Chemotherapy for Breast Cancer.

A 72-year-old woman underwent a mastectomy with one-stage breast reconstruction using silicone implant for right breast cancer. Postoperatively, she had received adjuvant chemotherapy with fluorouracil, epirubicin, and cyclophosphamide (FEC regimen). She was admitted for febrile neutropenia after the third course of chemotherapy. She remained febrile for a week, and she complained of dyspnea on hospital day 8. Computed tomography scan demonstrated widespread patchy ground glass changes in both lungs and serum (1→3)-ß-D-glucan was elevated to 20 pg/mL. Oral trimethoprim-sulfamethoxazole was started on the strong clinical suspicion of PCP, and the patient subsequently made a rapid recovery from fever and dyspnea.

Postoperative complications in the oldest old gastric cancer patients.

BACKGROUND: With the aging of the population, the number of elderly patients with gastric cancer is anticipated to increase. This study evaluated the feasibility of gastrectomy for patients over 85 years old. METHODS: A total of 176 patients who underwent gastrectomy for gastric cancer were assigned into two groups: 75-84 years group (n = 152); and ≥85 years group (n = 24). Preoperative comorbidities, operative results, and postoperative outcomes were retrospectively analyzed. RESULTS: In terms of concurrent illness, no significant differences were observed between groups. Preoperative lymphocyte (Lym) count, hemoglobin (Hb) level and serum albumin (Alb) levels were significantly lower in the ≥85 years group than in the 75-84 years group (Lym: 11.0 ± 2.2 × 10²/mm³ vs. 14.9 ± 3.2 × 10²/mm³, P = 0.0009; Hb: 11.2 ± 2.3 mg/dl vs. 12.4 ± 1.5 mg/dl, P = 0.038; Alb: 3.5 ± 0.5 mg/dl vs. 4.1 ± 0.3 mg/dl, P = 0.0006, respectively). Percent vital capacity was likewise lower in the ≥85 years group than in the 75-84 years group (86.2 ± 11.4% vs. 96.1 ± 12.2%, P = 0.04). Percentage forced expiratory volume in 1 s showed no significant difference. Incidence of postoperative pneumonia was higher in the ≥85 years group than in the 75-84 years group (P = 0.006). Time to first flatus and postoperative hospital stay were similar in both groups. CONCLUSION: Patients over 85 years old are more likely to suffer postoperative pneumonia after gastrectomy than younger old patients. Preoperative risk assessment is essential for the oldest old patients.

Thoracoscopic enucleation of esophageal gastrointestinal stromal tumor using prone positioning in a patient with severe chronic obstructive lung disease.

Abstract Chronic obstructive lung disease (COPD) is a high-risk factor for pulmonary complications in esophageal surgery. We reported a case of esophageal gastrointestinal stromal tumor (GIST) in a patient with severe COPD. Upper gastrointestinal endoscopy and computed tomography revealed a 3×2-cm submucosal tumor at the lower esophagus, and positron emission tomography showed a hypermetabolic mass (SUV(max)=5.6). Forced expiratory volume in 1 second (FEV(1)) was 33.0% of predicted and FEV(1)/forced vital capacity ratio was 40.7%. Taking the patient's lung function into account, we performed a thoracoscopic enucleation for the esophageal GIST while the patient was in a prone position. The postoperative course was uneventful and no significant change was observed in the patient's respiratory condition. Performing thoracoscopic surgery on COPD patients in a prone position is a good therapeutic alternative for reducing the occurrence of pulmonary complications.

A clinical study of docetaxel with or without 5'DFUR as a second-line chemotherapy for advanced gastric cancer.

We conducted a clinical pilot study to evaluate the efficacy and safety of the combination of docetaxel and 5'DFUR as a second-line chemotherapy for gastric cancer. Twenty-four patients were divided into two groups by simple randomization: group A (60 mg/m2 of docetaxel, every 3 wk) and group B (regimen A + 600 mg/body of 5'DFUR). The response rate was 17% and 42% in group A and B, respectively (p < 0.05). The MST from the start of the first-line was 17 mo in group B. The major adverse event was leukopenia in both groups.

[Survey of gemcitabine treatment for advanced pancreatic cancer in 20 hospitals of Nagano Prefecture].

To establish an effective therapy for pancreatic cancer, we made a retrospective survey of gemcitabine treatment performed at 20 hospitals in Nagano Prefecture. We analyzed data of 106 patients (64 men and 42 women, median age 66 years (33-83 years old)), half of whom had stage IV disease. Gemcitabine was administered for 3 consecutive weeks with one week rest in 57 patients, biweekly in 30 patients, initially for 3 weeks with 1 week rest and switched to biweekly schedule to 15 patients, and with another regimen to 4 patients. Analysis of the results of gemcitabine treatment between the 3 weeks with 1-week-rest regimen and the biweekly regimen revealed no differences between regimens in growth inhibition and symptom alleviation. However, we found less occurrence of blood toxicity in the biweekly regimen (40%) than in the 3 weeks with 1 week-rest regimen (59%). Median survival time for the biweekly regime was 9.7 months, only slightly longer than that of the 3 weeks with 1-week-rest regimen (8.5 months). The present study showed that a biweekly regimen for gemcitabine administration may be equivalent to the standard regime of 3 weeks with 1-week-rest regimen. Moreover, the biweekly regimen has advantages over the 3 weeks with 1-week rest regimen both economically and in terms of convenience for outpatient treatment. Therefore, the present results should be confirmed in future prospective studies, with the hope of developing a new standard treatment regimen for pancreatic cancer.

[Clinical problems in gemcitabine treatment for unresectable pancreatic cancer in the elderly--a multicentric retrospective study of 53 cases].

In Gemcitabine treatment, elderly patients with unresectable pancreatic cancer are more likely to suffer from haematological and non-haematological adverse effects than non-elderly patients. Forty percent of the elderly patients were dropped from the initial protocol due to the adverse effects, mainly because of non-haematological events or symptoms. To avoid adverse effects, the administration schedule for Gemcitabine tended to be less often and at a lower dose for elderly patients among members of the Nagano Pancreatic Cancer Study Group. However, the fact that some cases showed a limited effect from this administration schedule albeit without adverse effect, might suggest that the frequency of ordinary administration schedule should be maintained, although the Gemcitabine dose could be decreased in unresectable pancreatic cancer patients in poor condition.