[Complicated gastric cancer and modern treatment approaches]. / Oslozhnennye formy raka zheludka ­ sovremennye podkhody k lecheniyu.

Among all patients with gastric cancer, 40% admit to the hospitals due to cancer-related complications. The most common complications of gastric cancer are bleeding (22-80%), malignant gastric outlet obstruction (26-60%), and perforation (less than 5%). The main treatment methods for gastric cancer complicated by bleeding are various forms of endoscopic hemostasis, transarterial embolization and external beam radiotherapy. Surgical treatment is possible in case of ineffective management. However, surgical algorithm is not standardized. Malignant gastric outlet stenosis requires decompression: endoscopic stenting, palliative gastroenterostomy. Surgical treatment is also possible (gastrectomy, proximal or distal resection of the stomach). The main problem for patients with complicated gastric cancer is the lack of standardized algorithms and abundance of potential surgical techniques. The aim of our review is to systematize available data on the treatment of complicated gastric cancer and to standardize existing methods.

[A Long-Term Survival Case of Gastric Cancer with Pyloric Stenosis and Peritoneum Dissemination That Received Intravenous and Intraperitoneal Paclitaxel Combined with S-1 Therapy after Bypass Surgery].

Although a 74-year-old man with gastric cancer with pyloric stenosis(cT4aN[+]M0, Stage Ⅲ)had undergone surgery, he was diagnosed with peritoneum dissemination. He received bypass surgery, and an intraperitoneal access port was implanted in his subcutaneous space. Postoperatively, he received 4 courses of SOX therapy. In treatment effect, the primary tumor showed no change, and ascites developed. Therefore, we changed the chemotherapy regimen in intravenous and intraperitoneal paclitaxel combined with S-1 therapy. After starting this regimen, the primary tumor decreased in size, and the pyloric stenosis improved. Currently, the patient is alive without recurrence for 5 years and 8 months after intravenous and intraperitoneal paclitaxel combined with S-1 therapy and receiving this treatment regularly.

[A Case of Advanced Gastric Cancer with Pancreatic Invasion Completely Resected after Chemotherapy].

An 80-year-old man with severe anemia was found to have a circumferential type 3 lesion with obstruction in the gastric pylorus during upper gastrointestinal endoscopy. A contrast-enhanced CT scan of the abdomen showed severe invasion of the pancreatic head, and the diagnosis was gastric cancer L, Circ, cType 3, tub2, cT4b, N(+), M0, cStage ⅣA. The patient underwent laparoscopic gastrojejunostomy for gastrointestinal transit obstruction followed by 4 courses of SOX therapy as systemic chemotherapy. After chemotherapy, the invasion to the head of the pancreas was obscured, and pyloric gastrectomy and lymph node dissection were performed. The patient was recurrence-free as of 18 months after surgery. In this case, we performed gastric jejunal bypass surgery followed by chemotherapy with oral anticancer agents to achieve the downstaging of unresectable advanced gastric cancer with pancreatic invasion and pyloric stenosis in patients with poor general condition. As a result, the patient was able to undergo distal gastrectomy, which is one of the recommended multidisciplinary treatments.

[A Case of an Advanced Gastric Cancer Patient with Outlet Obstruction and Malnutrition Who Successfully Underwent Neoadjuvant Chemotherapy with Enteral Nutrition].

We reported a case of an advanced gastric cancer patient with gastric outlet obstruction and malnutrition who successfully underwent neoadjuvant chemotherapy with enteral feeding. The patient is a 72-year-old man. The diagnosis was advanced gastric cancer with pyloric stenosis. Both decompression and enteral nutrition was performed with a W-ED®. Chemotherapy was markedly effective and nutritional status improved. He underwent robot-assisted distal gastrectomy(D2)and Billroth Ⅱ reconstruction under good nutritional status after neoadjuvant chemotherapy with intragastric decompression and nutritional management using a W-ED® tube. W-ED® tube is a useful tool for the proper nutritional management of patients with advanced gastric cancer who have pyloric stenosis by adequate decompression and enteral feeding.

[A Rare Case of Cronkhite-Canada Syndrome Associated with Gastric Cancer and Gastric Outlet Obstruction].

Cronkhite-Canada syndrome(CCS)is a rare non-inherited disease characterized by gastrointestinal polyposis and ectodermal abnormalities. We report a rare case of CCS associated with gastric cancer and gastric outlet obstruction with a review of the literature. A 75-year-old man was admitted because of frequent vomiting and hypoproteinemia. He was diagnosed with CCS due to typical clinical and laboratory findings including alopecia, nail atrophy, hypoproteinemia, and typical gastrointestinal polyposis. Upper endoscopic examination also pointed out a large gastric cancer mainly located in the antrum and the reversible pyloric obstruction caused by the gastric tumor. Biopsy of the tumor revealed tubular adenocarcinoma. Computed tomography demonstrated the dilated duodenum caused by packing of the gastric tumor. 1.5 months after prednisolone therapy, he underwent total gastrectomy with complete resection of the dilated duodenal bulb. Histological examination revealed gastric cancer(pap>tub1)classified into Stage ⅢC. Postoperative course was uneventful and he moved to another hospital. To our knowledge, including the present case, there were 20 reported cases of CCS associated with gastric cancer from Japan(1979-2022). Also, 7 cases of CCS associated with gastric outlet obstruction was reported.

[Gastric pyloric stenosis caused by submucosal hematoma in a patient with vascular type Ehlers-Danlos syndrome:a case report].

Ehlers-Danlos syndrome (EDS) is a relatively rare syndrome characterized by excessive stretching of the skin and joints and hemorrhage and increased tissue fragility due to abnormal collagen. Particularly, vascular type EDS has been associated with type III collagen-rich aorta and intestinal tract fragility, owing to which young people are at a risk of spontaneous arterial rupture, aneurysm, aortic dissection, and gastrointestinal perforation. However, there have been few reports regarding gastric submucosal hematoma caused by EDS. Herein, we presented the case of a 29-year-old man who was diagnosed with EDS during his childhood and used to attend another hospital. He visited our hospital after developing epigastralgia and vomiting. The patient presented with pyloric stenosis caused by gastric antrum submucosal hematoma as revealed via abdominal contrast-enhanced computed tomography (CT), esophagogastroduodenoscopy (EGD), and endoscopic ultrasonography. He was admitted and underwent conservative therapy in addition to fasting, drip infusion, and tube feeding. The follow-up CT and EGD revealed hematoma shrinkage, after which he was discharged as no further deterioration was observed. Thus, based on the observed EDS characteristics, an accurate diagnosis is warranted to avoid unnecessary invasive therapy.

Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature.

BACKGROUND: Autosomal recessive cutis laxa (ARCL) is a heterogeneous disorder with three primary forms (ARCL 1, ARCL 2 and ARCL 3). Latent transforming growth factor beta binding protein 4 (LTBP4) anomalies cause ARCL1C and are connected to different problems in the skin and other organs. Herein, we present a seven month old Iranian boy with a clinical manifestation of ARCL1 with literature review of previous cases with attributes of ARCL1C. METHODS: Considering the craniofacial characteristics and respiratory distress of the proband, cutis laxa (CL) was expected and whole-exome sequencing (WES) was performed. RESULTS: In the proband, signs of CL were mainly located in the face, thorax, and abdomen. The prenatal investigation revealed a diaphragmatic hernia and certain uncommon signs, such as an atrial septal defect and pyloric stenosis. The WES showed a novel homozygous mutation (c.533-1G > A) in exon six of the LTBP4 gene. CONCLUSION: This report showed a new variant with uncommon clinical features, such as a stenosis atrial septal defect and pyloric stenosis, which causes ARCL1C. Unfortunately, the proband developed several heart problems and died at the age of seven months and seven days. Thus, a more in-depth evaluation is needed to clarify the different aspects of CL related to LTBP4 disorder.

Crack cocaine abuse as an undescribed cause of gastric outlet obstruction.

A 32-year-old male with crack-cocaine abuse for 10 years, 300 g/day. He started with epigastric abdominal pain, intensity 10/10, he went to another hospital where a perforated peptic ulcer was suspected and a laparotomy was performed, with no findings. Subsequently, he started with vomiting and weight loss, on admission, a gastric outlet obstruction (GOO) was suspected and CT scan showed a concentric duodenal growth. An upper endoscopy identified a duodenal bulb stenosis with a Forrest-III ulcer. Roux-en-Y gastrojejunal anastomosis was performed, identifying duodenal thickening, without malignancy.

[Distal Gastrectomy under Management of Intra-Aortic Balloon Pumping Therapy for an Elderly Patient with Carcinomatous Pyloric Stenosis Complicated by Severe Coronary Stenosis].

This case involved an 82-year-old man with a history of diabetes mellitus and myocardial infarction. He was undergoing treatment with 2 oral antiplatelet agents. The patient presented to our hospital for carcinomatous pyloric stenosis caused by type 4 advanced gastric cancer. Although distal gastrectomy was planned, preoperative coronary angiography revealed triple- vessel coronary artery disease. Therefore, surgery was performed under management of intra-aortic balloon pumping (IABP)therapy. The patient's hemodynamics at the time of the operation were stable, and no perioperative cardiovascular complications occurred. However, the patient was not able to start an oral diet because of impaired swallowing function. Although he underwent daily swallowing rehabilitation, he died of aspiration pneumonia 40 days postoperatively. There are many reports of cancer resection under IABP management for patients with severe heart disease. Because the perioperative hemodynamics were stable in all 21 reported cases of digestive malignant tumor resections in Japan, an IABP is suggested to be very effective for patients with severe heart disease. However, early death has also occurred, as in the present case. Close attention to the indications for IABP therapy is needed, especially in elderly patients, in consideration of not only cancer and heart disease but also preoperative activities of daily living.

[Fracture of a Gastrointestinal Stent during Chemotherapy for Unresectable Advanced Gastric Cancer-A Case Report].

A 79-year-old man with shortness of breath on exertion had right pleural effusion and ascites effusion on CT, and was diagnosed with adenocarcinoma on pleural cytology. Upper gastrointestinal endoscopy revealed a gastric cancer with pyloric stenosis, and biopsy from the same site revealed Group 5(tub2). The patient was diagnosed as unresectable advanced gastric cancer with pyloric stenosis and peritoneal and pleural dissemination. After placement of an uncovered metallic stent for the pyloric stenosis, SOX therapy was started. Three months after stent placement, a CT scan to determine the effect of chemotherapy showed stenosis in the gastrointestinal stent, partial breakage of the stent on the mouth side, and prolapse of the stent into the stomach. There were no symptoms such as abdominal pain, and the patient was placed on standby for retrieval of the dislodged stent. The prolapsed stent was retrieved endoscopically, and a covered metallic stent was additionally implanted as a"stent in stent". The patient has had no further passage obstruction and is currently undergoing chemotherapy. We report a case of fracture of a gastrointestinal stent during chemotherapy for unresectable advanced gastric cancer.

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.

RASopathies are a group of disorders caused by pathogenic variants in the genes encoding Ras/mitogen-activated protein kinase pathway and share overlapping clinical and molecular features. This study is aimed to describe the clinical and molecular features of 38 patients with RASopathies. Sanger or targeted next-generation sequencing of related genes and multiplex ligation-dependent-probe amplification analysis for NF1 were performed. The pathogenic variant detection rate was 94.4%. While PTPN11 was responsible for 50% of 18 patients with Noonan syndrome (NS), SOS1, LZTR1, RIT1, and RAF1 were responsible for the remaining 27.8%, 11.1%, 5.5%, and 5.5%, respectively. Three variants in LZTR1 were novel, of which two were identified in the compound heterozygous state in a patient with intellectual disability and hypertrophic cardiomyopathy, whereas the third variant was found in the heterozygous state in a patient with pulmonary stenosis and normal intelligence. We described pyloric stenosis, knee dislocation, and cleft palate in patients with SOS1, RIT1, and RAF1 variants, respectively, that was not previously reported. We detected a PTPN11 variant in three patients from same family with NS with multiple lentigines. BRAF and MAP2K2 variants were found in eight patients with Cardiofaciocutaneous syndrome. Two variants in HRAS were detected in two Costello syndrome patients, one with a mild and the other with a severe phenotype. While large NF1 deletions were identified in four Neurofibromatosis-NS patients with intellectual disability, intelligence was normal in one patient with missense variant. In conclusion, this study provided three novel variants in LZTR1 and expanded the clinical phenotype of rare RASopathies.

Timing of pyloric stenosis and effectiveness of endoscopic balloon dilation after pyloric endoscopic submucosal dissection.

BACKGROUND AND AIM: There have been studies on risk factors for stenosis after pyloric endoscopic submucosal dissection (ESD). However, the most appropriate strategies for the management of cases with these risk factors have not been established. This study aimed to investigate post-ESD management by evaluating the timing of stenosis and the effectiveness of endoscopic balloon dilation (EBD) after pyloric ESD. METHODS: We retrospectively reviewed cases of pyloric ESD. We first reassessed risk factors for stenosis in multivariate analysis and receiver operating characteristic curve and defined patients with the identified risk factors as the risk group. The primary outcome was the timing of stenosis in the risk group assessed by the Kaplan-Meier method. RESULTS: We reviewed 159 cases with pyloric ESD and observed pyloric stenosis in 25 cases. Cases with circumferential mucosal defect ≥ 76% were identified as the risk group. The stenosis-free probability in the risk group was 97% (95% confidence interval [CI]: 79-100%), 94% (95% CI: 76-98%), and 85% (95% CI: 66-93%) on days 7, 14, and 21, respectively. It decreased every week thereafter and did not significantly change after day 56. Twenty-three stenosis cases, except for conservative improvement, including six whole circumferential pyloric ESD cases, were improved by EBD without complications. CONCLUSIONS: Post-ESD stenosis often developed from the third to the eighth week. In all pyloric ESD cases, including whole circumferential pyloric ESD cases, pyloric stenosis was improved following EBD without complications.

Open versus laparoscopic pyloromyotomy for pyloric stenosis.

BACKGROUND: Infantile hypertrophic pyloric stenosis (IHPS) is a disorder of young children (aged one year or less) and can be treated by laparoscopic (LP) or open (OP) longitudinal myotomy of the pylorus. Since the first description in 1990, LP is being performed more often worldwide. OBJECTIVES: To compare the efficacy and safety of open versus laparoscopic pyloromyotomy for IHPS. SEARCH METHODS: We conducted a literature search on 04 February 2021 to identify all randomised controlled trials (RCTs), without any language restrictions. We searched the following electronic databases: MEDLINE (1990 to February 2021), Embase (1990 to February 2021), and the Cochrane Central Register of Controlled Trials (CENTRAL). We also searched the Internet using the Google Search engine (www.google.com) and Google Scholar (scholar.google.com) to identify grey literature not indexed in databases. SELECTION CRITERIA: We included RCTs and quasi-randomised trials comparing LP with OP for hypertrophic pyloric stenosis. DATA COLLECTION AND ANALYSIS: Two review authors independently screened references and extracted data from trial reports. Where outcomes or study details were not reported, we requested missing data from the corresponding authors of the primary RCTs. We used a random-effects model to calculate risk ratios (RRs) for binary outcomes, and mean differences (MDs) for continuous outcomes. Two review authors independently assessed risks of bias. We used GRADE to assess the certainty of the evidence for all outcomes. MAIN RESULTS: The electronic database search resulted in a total of 434 records. After de-duplication, we screened 410 independent publications, and ultimately included seven RCTs (reported in 8 reports) in quantitative analysis. The seven included RCTs enrolled 720 participants (357 with open pyloromyotomy and 363 with laparoscopic pyloromyotomy). One study was a multi-country trial, three were carried out in the USA, and one study each was carried out in France, Japan, and Bangladesh. The evidence suggests that LP may result in a small increase in mucosal perforation compared with OP (RR 1.60, 95% CI 0.49 to 5.26; 7 studies, 720 participants; low-certainty evidence). LP may result in up to 5 extra instances of mucosal perforation per 1,000 participants; however, the confidence interval ranges from 4 fewer to 44 more per 1,000 participants. Four RCTs with 502 participants reported on incomplete pyloromyotomy. They indicate that LP may increase the risk of incomplete pyloromyotomy compared with OP, but the confidence interval crosses the line of no effect (RR 7.37, 95% CI 0.92 to 59.11; 4 studies, 502 participants; low-certainty evidence). In the LP groups, 6 cases of incomplete pyloromyotomy were reported in 247 participants while no cases of incomplete pyloromyotomy were reported in the OP groups (from 255 participants). All included studies (720 participants) reported on postoperative wound infections or abscess formations. The evidence is very uncertain about the effect of LP on postoperative wound infection or abscess formation compared with OP (RR 0.59, 95% CI 0.24 to 1.45; 7 studies, 720 participants; very low-certainty evidence). The evidence is also very uncertain about the effect of LP on postoperative incisional hernia compared with OP (RR 1.01, 95% CI 0.11 to 9.53; 4 studies, 382 participants; very low-certainty evidence). Length of hospital stay was assessed by five RCTs, including 562 participants. The evidence is very uncertain about the effect of LP compared to OP (mean difference -3.01 hours, 95% CI -8.39 to 2.37 hours; very low-certainty evidence). Time to full feeds was assessed by six studies, including 622 participants. The evidence is very uncertain about the effect of LP on time to full feeds compared with OP (mean difference -5.86 hours, 95% CI -15.95 to 4.24 hours; very low-certainty evidence). The evidence is also very uncertain about the effect of LP on operating time compared with OP (mean difference 0.53 minutes, 95% CI -3.53 to 4.59 minutes; 6 studies, 622 participants; very low-certainty evidence). AUTHORS' CONCLUSIONS: Laparoscopic pyloromyotomy may result in a small increase in mucosal perforation when compared with open pyloromyotomy for IHPS. There may be an increased risk of incomplete pyloromyotomy following LP compared with OP, but the effect estimate is imprecise and includes the possibility of no difference. We do not know about the effect of LP compared with OP on the need for re-operation, postoperative wound infections or abscess formation, postoperative haematoma or seroma formation, incisional hernia occurrence, length of postoperative stay, time to full feeds, or operating time because the certainty of the evidence was very low for these outcomes. We downgraded the certainty of the evidence for most outcomes due to limitations in the study design (most outcomes were susceptible to detection bias) and imprecision. There is limited evidence available comparing LP with OP for IHPS. The included studies did not provide sufficient information to determine the effect of training, experience, or surgeon preferences on the outcomes assessed.

Effects of Preoperative Pyloric Stenosis on Outcomes and Nutritional Status in 73 Patients Following Curative Gastrectomy for Gastric Cancer: A Retrospective Study from a Single Center.

BACKGROUND The aim of this study was to explore the potential impact of pyloric stenosis (PS) on the nutritional status, the incidence of postoperative complications, and the long-term prognosis of distal gastric cancer (GC) patients after curative resection. MATERIAL AND METHODS We retrospectively analyzed the data of 343 GC patients who underwent curative gastrectomy for gastric cancer between January 2010 and December 2013. All patients were divided into 2 groups according to the status of PS. Their clinical and pathological features, nutritional indicators, and incidence of postoperative complications were compared and potential prognostic factors were analyzed using the propensity score matching analysis (PSM). RESULTS Seventy-four (21.6%) patients had PS. Patients with PS had worse survival outcomes than those without PS (χ²=21.369, P<0.001). Multivariate survival analysis demonstrated that PS, depth of invasion, and lymph node metastasis (all P<0.05) were the independent predictors of overall survival (OS). Patients with PS had significantly higher lymph node metastasis in No. 3, 4sb, 4d, 6, 8a, 9, and 14v lymph nodes. Patients with PS had significantly lower preoperative BMI, more weight loss, and lower prealbumin than those without PS. There were no significant differences between the 2 groups in postoperative complications, morbidity, or mortality. CONCLUSIONS Distal GC patients with PS have poor clinicopathological and nutritional status and poor prognosis. However, PS does not increase surgery-related morbidity and mortality.

[A Case of Adenocarcinoma Arising from an Ectopic Pancreas of the Stomach Presenting as Pyloric Stenosis].

The patient was a 37-year-old man who visited a neighborhood clinic complaining of nausea and upper abdominal pain. Since examination revealed abdominal distention, he was referred to our hospital. Abdominal computed tomography at our hospital revealed retention of gastric contents and contrast-enhancing wall thickening localized to the pyloric region. Upper gastrointestinal endoscopy showed stenosis involving the entire circumference of the pylorus. However, multiple biopsies failed to reveal any evidence of malignancy. Four dilatations were performed, with no improvement. Therefore, the patient was referred to the Department of Surgery. Since malignant disease could not be ruled out, laparoscopic distal gastrectomy with D2 lymph node dissection was performed. Histopathological examination of the resected specimen revealed the presence of ectopic pancreatic tissue in the proper muscle layer of the pylorus. Adenocarcinoma invading and proliferating into the surrounding ectopic mucosal lesion was observed. Therefore, the patient was diagnosed with adenocarcinoma arising from ectopic pancreas. The possibility of ectopic pancreatic cancer may need to be considered in patients with pyloric stenosis caused by a submucosal tumor-like lesion.

[A Case of Pyloric Stenosis Due to Gastric Metastasis of Breast Cancer].

We report a case of left advanced breast cancer(T4N1M0, Stage ⅢA)in a 67-year-old woman. In August 2010, her breast cancer(triple-negative invasive ductal carcinoma)was resected(mastectomy plus axillary lymph node dissection) with adjuvant chemotherapy(TC)and irradiation to her chest wall. In July 2018, she experienced recurrent vomiting. Gastrointestinal endoscopy(GS)revealed type Ⅳ advanced gastric cancer-like appearance with pyloric stenosis. Pathological findings confirmed hormone-positive gastric metastasis of breast cancer. Systemic chemo-endocrine therapy(EC and anastrozole) was performed, following which her symptoms improved. In May 2019, recurrent vomiting appeared again. Thereafter, systemic chemo-endocrine therapy(paclitaxel plus bevacizumab and fulvestrant)was initiated, and her symptoms showed improvement. In November 2020, she showed obstructive jaundice due to malignant biliary stenosis. She was treated using endoscopic biliary stenting, but died 2 months later. Gastric metastasis is reported rarely in 4% of all breast cancers, and GS should be recommended in cases of recurrent abdominal complaints.

Adequacy of Preoperative Resuscitation in Laparoscopic Pyloromyotomy and Anesthetic Emergence.

BACKGROUND: Pyloromyotomy is one of the most common surgical procedures performed on otherwise healthy infants. Pyloric stenosis results in a hypochloremic, hypokalemic metabolic alkalosis that is considered a medical emergency. This alkalotic state is believed to be associated with an increased incidence of apneic episodes. Because apnea tends to occur during anesthetic emergence, we sought to examine the association between the preoperative serum bicarbonate level and anesthetic emergence time after laparoscopic pyloromyotomy. METHODS: Data were collected from patients who underwent laparoscopic pyloromyotomies from April 2014 to October 2018. To estimate the correlation between preoperative bicarbonate level and emergence time while accounting for the positive skew of emergence time and potential confounding variables, a weighted quantile mixed regression was used. Due to a nonlinear association with emergence time, preoperative serum bicarbonate was split into 2 continuous intervals (<24 and ≥24 mEq/L) and the slope versus outcome was fit for each interval. RESULTS: A total of 529 patients who underwent laparoscopic pyloromyotomy were analyzed in this study. After controlling for confounders, the preoperative serum bicarbonate interval of ≥24 mEq/L was linearly associated with median emergence time (median increase of 0.81 minutes per 1 mEq/L increase of bicarbonate; 95% confidence interval [CI], 0.42-1.20; P < .001). Only 3 patients (0.6%) had apneic episodes after pyloromyotomy despite all having preoperative serum bicarbonate levels <29 mEq/L. CONCLUSIONS: Preoperative serum bicarbonate was positively associated with median anesthetic emergence time in a linear manner for values ≥24 mEq/L, although this correlation may not appear to be clinically substantial per 1 mEq/L unit. However, when preoperative serum bicarbonate levels were dichotomized at a commonly used presurgical threshold, the difference in median emergence time between ≥30 and <30 mEq/L was an estimated 5.4 minutes (95% CI, 3.1-7.8 minutes; P < .001).

[A Case of Advanced Gastric Cancer with Umbilical Metastasis, Pyloric Stenosis, and Peritoneal Dissemination Underwent Palliative Surgery after Chemotherapy].

A 62-year-old woman was diagnosed with gastric cancer, Type 4, cT4b(LN, mesentery of transverse colon), N1 M1H0P1CY1, cStage ⅣB. S-1 and L-OHP(SOX)were administered for 4 courses and clinical response was SD. She interrupted the treatment because of practicing folk therapy. She had an emergency hospitalization due to pyloric stenosis, vomiting, and an umbilical tumor with pain. She was treated with 1 course of mFOLFOX6(5-FU, L-OHP, l-LV)followed by palliative surgery(laparoscopy assisted distal gastrectomy, Roux-en-Y reconstruction, resection of umbilical tumor, and bypass for transverse colon stenosis due to dissemination). The pathological diagnosis was L, Circ, Type 4, 126×89 mm, por> sig, pT4b(SI, mesentery of transverse colon), pN3a(12/13), H0P1CY1, pStageⅣ, and metastatic umbilical tumor. Following surgery, oral administration of mFOLFOX6 is continued. Umbilical metastasis(Sister Mary Joseph's nodule)is associated with poor prognosis, however, appropriate management including symptom control by palliative surgery and continuation of chemotherapy may lead a better prognosis.

[Efficacy of Laparoscopic Gastrojejunal Bypass for Unresectable Gastric Cancer with Pyloric Stenosis].

In general, gastrojejunal bypass is performed for unresectable gastric cancers with stenosis. It enables patients to take food and be discharged from the hospital earlier. Previously, we used to primarily perform open gastrojejunal bypass; however, recently, we perform laparoscopic gastrojejunal bypass because it is minimally invasive. We evaluated 31 patients who underwent gastrojejunal bypass for unresectable gastric cancer in our department between December 2009 and December 2019. We retrospectively compared the laparoscopic surgery group(n=7)with the open surgery group(n=24). No significant difference in patient background was found between the study groups. Compared to patients in the open surgery group, those in the laparoscopic group had significantly shorter postoperative hospital stay and time until initiation of oral intake, relatively lesser blood loss, and no postoperative complications. Moreover, more patients in the laparoscopic group than in the open surgery group were administered postoperative chemotherapy. Further, postoperative chemotherapy was administered sooner in the laparoscopic group than in the open surgery group. Laparoscopic gastrojejunal bypass is a safe and less invasive treatment for unresectable gastric cancer with stenosis. It may be superior to the conventional open surgery with regard to early postoperative chemotherapy for cancer.

Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis.

Cases with multiple molecular diagnoses are challenging to diagnose clinically, yet may be resolved by unbiased exome sequencing analysis. We report an infant with developmental delay, severe growth delay, dysmorphic features, and multiple congenital anomalies including retinal coloboma, congenital pyloric stenosis, and circumferential skin creases. Exome sequencing identified a homozygous missense variant in MAPRE2 and a homozygous stopgain (nonsense) variant in CDON. Variants in MAPRE2, encoding a regulator of microtubule dynamics, lead to congenital symmetric circumferential skin creases type 2, with associated dysmorphism, small growth parameters, and congenital cardiac and genital anomalies. Monoallelic variants in CDON, encoding a coreceptor for sonic hedgehog, have been associated with autosomal dominant pituitary stalk interruption syndrome and holoprosencephaly. Cdon-/- mice have multiple eye defects including coloboma, consistent with the observed human phenotype. Thus, the complex phenotypic presentation of the infant may potentially be attributed to a dual molecular diagnosis. Furthermore, we present CDON as a candidate gene for coloboma formation in addition to the known holoprosencephaly phenotype, and propose to expand the allelic spectrum of CDON to variants associated with autosomal recessive inheritance in addition to dominant inheritance.