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.

Management of meconium-related ileus in very low-birthweight infants.

BACKGROUND: Although administration of a water-soluble contrast enema has been recognized to be effective for meconium-related ileus, there have been no definitive management guidelines for very low-birthweight infants. METHODS: Between 1998 and 2004, 10 infants without cystic fibrosis were treated for meconium-related ileus at Toyohashi Municipal Hospital. Their treatment and clinical course were reviewed retrospectively. RESULTS: The average gestational age and birthweight of the 10 infants was 27 weeks and 788 g, respectively. The average age at initiation of treatment with a water-soluble contrast enema was 6.8 days. Intestinal obstruction was relieved by the enema in eight of 10 patients, while one underwent laparotomy and one died without any improvement of obstruction. In both neonates for whom the enema failed, rectal examination and rectal irrigation had been performed for several days before the enema was administered at the age of 14 and 15 days, respectively. In contrast, the enema was administered at the age of 1-11 days in neonates for whom this treatment was successful. Obstruction was relieved if the contrast medium reached the distal ileum, but enemas without reflux into the distal ileum failed to improve the obstruction. Contrast medium passed through the ileocecal valve to reach the distal ileum in all procedures done under fluoroscopy, but the medium failed to reach the ileum in most of the procedures done without fluoroscopy. CONCLUSION: Although administration of water-soluble contrast enemas can be effective for meconium-related ileus, reflux into the terminal ileum is essential for bowel obstruction to improve, so it is desirable to perform the procedure under fluoroscopic guidance.

Successful sequential sac ligation for an unruptured giant omphalocele: report of a case.

A giant omphalocele is difficult to treat and various methods have been tried with varying results. We describe a technique of sequential sac ligation to achieve rapid and gentle reduction of the herniated abdominal contents, followed by delayed primary closure of the abdominal wall defect.

Extrahepatic portal vein morphology in children with extrahepatic portal hypertension assessed by 3-dimensional computed tomographic portography: a new etiology of extrahepatic portal hypertension.

BACKGROUND/PURPOSE: The cause of extrahepatic portal hypertension in children has not been clarified. Our aim was to determine the morphological features of the extrahepatic portal vein in children with extrahepatic portal hypertension by 3-dimensional computed tomographic portography and to clarify the etiology of this disorder. MATERIALS AND METHODS: Six patients ranging in age from 10 to 18 years (median age, 12.8 years) who had portal hypertension presented with hematemesis. They underwent intravenous computed tomographic portography using a helical computed tomography scanner and 3-dimensional image reconstruction. RESULTS: The extrahepatic portal vein was visualized in all patients by 3-dimensional computed tomographic portography. None of the patients showed extrahepatic portal vein obstruction or cavernous transformation. All patients had a tortuous eta-shaped extrahepatic portal vein, and a line could be drawn through the flexures of the portal vein to the hepatic hilum. CONCLUSION: In children, extrahepatic portal hypertension is not caused by extrahepatic portal vein obstruction and may be of embryological origin.

Efficacy of urinary sulfated bile acids for diagnosis of bacterial cholangitis in biliary atresia.

This study evaluated the efficacy of measuring urinary sulfated bile acids (USBA) for diagnosis of bacterial cholangitis in patients with biliary atresia. Eight infants with biliary atresia were recruited. The USBA level was measured when they were admitted to hospital with a fever of unknown origin. Clinical manifestations and laboratory data were reviewed. The standard USBA value for each patient (S-USBA) was defined as the level measured when they had no fever, and USBA ratio (R-USBA) was calculated as the USBA level during the febrile episode divided by the S-USBA. Then R-USBA values were compared between febrile episodes with and without cholangitis to assess the diagnostic ability of USBA. Twenty-three febrile episodes occurred in eight patients during a 15-month period. Nine episodes were diagnosed as being due to cholangitis, five were due to non-cholangitis, and nine were of undetermined origin. The R-USBA value ranged from 1.5 to 15.4 during cholangitis episodes and from 0.4 to 1.2 during non-cholangitis febrile episodes. When fever was of undetermined origin, R-USBA was found to be increased during some episodes and not in others. USBA increased immediately in patients with cholangitis. The measurement of USBA is a useful non-invasive test for cholangitis in patients with biliary atresia who had undergone Kasai's operation.

Volvulus of the small intestine caused by right paraduodenal hernia: a case report.

This report describes a very rare case of right paraduodenal hernia presenting as volvulus of nonherniated small intestine. A 12-year-old boy presented with sudden onset of lower abdominal pain, and emergency laparotomy was performed on a diagnosis of small intestinal obstruction. Laparotomy confirmed right paraduodenal hernia and volvulus of the small intestine out of the hernia sac.

A case of retroperitoneal abscess caused by Salmonella Oranienburg.

The authors report a case of retroperitoneal abscess caused by Salmonella Oranienburg in an 8-year-old girl. This was one case in an epidemic of food poisoning from Salmonella Oranienburg or Salmonella Chester transmitted by many kinds of contaminated dried squid products. This is the first reported case of a retroperitoneal abscess by Salmonella Oranienburg.

Three-dimensional image reconstruction of an anorectal malformation with multidetector-row helical computed tomography technology.

The presentation of the surgical anatomy of anorectal malformation by standard anatomical figures is not suitable for individual anorectoplasty. It is essential to understand the anatomy of the pelvic muscle (striated muscle complex: SMC) including the external anal sphincter and their three-dimensional (3D) configuration in each patient. Thus, we studied the SMC three-dimensionally with multidetector-row helical computed tomography (MRH-CT) preoperatively, and evaluated its usefulness. Fourteen patients with anorectal malformations before anorectoplasty (types: high n=6, intermediate n=2, low n=6) and two patients without anorectal malformations as controls (total: male n=8, female n=8) were investigated. An image of pelvic region was prepared with a slice thickness of 0.5 mm and a reconstruction pitch of 0.5 mm. A 3D reconstruction on a conventional personal computer (PC) was made with a volume rendering method, and assisted by our own software. The SMC was analyzed with three modified modes of 3D reconstruction corresponding to the surrounding tissues. A length of the parasagittal muscle, and both the sagittal and transverse width of the vertical fibers in the SMC at the connection to the parasagittal muscle were measured on a 3D image and then compared among three different types and controls. To eliminate variations in age, a length index was used to allow comparison. The 3D configuration of the SMC was different in every case. The arranged image mode, which displayed the SMC and the pelvic bones simultaneously, enabled to use conventional knowledge in cysto-urethrography. The length of the parasagittal muscle was longest in the high type but the width of the vertical fibers was smallest. Anatomical figures of the SMC including the external anal sphincter were clearly demonstrated on a PC in every anorectal malformation by our program. A 3D reconstruction image provides positional information on the SMC for the body surface and pelvic bone at the same time. Both a 3D image and positional information with MRH-CT offers the surgeon a simulated operative profile of the SMC superior to CT or magnetic resonance imaging slices alone.