1.Metastatic Uterine Leiomyosarcoma Presenting as an Overt Gastric Mass and Gastrointestinal Bleeding Masquerading as GIST: a Rare Diagnostic Pitfall
Eldimson E. Bermudo ; Christian Roy Q. Sarmiento ; Al-Zamzam A. Abubakar
Philippine Journal of Pathology 2026;(75th PSP Research Competition Abstracts):1-
Introduction:
While uterine leiomyosarcoma, an aggressive smooth muscle malignancy,
has a strong propensity for hematogenous spread—most commonly to the lungs and
liver—gastric metastasis remains exceedingly rare. When it occurs, it presents as a
masquerading lesion that mimics primary gastric tumors, creating a significant diagnostic
pitfall for both clinicians and pathologists.
Case Description:
A 75-year-old female presented with recurrent melena. Esophagogastroduodenoscopy revealed a friable, bell-shaped mass measuring 7 × 6 cm in the
gastric fundus, suspicious for GIST. Histopathology showed spindle to epithelioid tumor
cells arranged in intersecting fascicles and solid sheets with vesicular nuclei, conspicuous
nucleoli, numerous mitosis, and tumor necrosis. IHCs demonstrated strong SMA positivity
but negative CD117, raising consideration of undifferentiated GIST. However, subsequent
DOG1 staining was negative, arguing strongly against GIST. Additional markers including
S100, PanCK, CD3, CD20, CD15, and CD30 were negative. Further IHCs revealed
diffuse, desmin and H-caldesmon positivity, supporting smooth muscle differentiation.
Review of prior records revealed TAHBSO in 2023 for uterine leiomyosarcoma.
Discussion:
Metastatic involvement of the stomach is rare and most commonly arises
from breast or lung primaries. Gastric metastases are rare and most commonly originate
from breast or lung primaries. Metastatic uterine leiomyosarcoma presenting as a solitary
gastric mass is exceedingly uncommon and may closely mimic primary gastric tumors
such as GIST both endoscopically and histologically, representing an important diagnostic
pitfall.
Conclusion
This case highlights a rare metastatic pattern of uterine leiomyosarcoma
presenting as an overt gastric mass with GI bleeding. Awareness of this deceptive
presentation and careful clinicopathologic correlation are essential for accurate diagnosis.
To our knowledge, this represents one of the few reported cases worldwide and possibly
the first documented in the Philippines.
Gastrointestinal Stromal Tumors
;
Immunohistochemistry
;
Leiomyosarcoma
;
Gastrointestinal Hemorrhage
2.Summary of the 2024 report on gastroenterology and digestive endoscopy in China.
Zheran CHEN ; Yusi XU ; Lei XIN ; Yifei SONG ; Jinfang XU ; Chu CHU ; Chuting YU ; Ye GAO ; Xudong MA ; Zhaoshen LI ; Luowei WANG
Chinese Medical Journal 2025;138(21):2693-2701
BACKGROUND:
China has made significant progress in medical accessibility and quality over the past decades, and quality improvements in gastroenterology and digestive endoscopy have been consistent. The study aimed to describe the status quo of gastroenterology and digestive endoscopy in the Chinese mainland based on the data from the National Clinical Improvement System (NCIS) and the Hospital Quality Monitoring System (HQMS).
METHODS:
Data were extracted from the NCIS and the HQMS. Data analysis included general information from the Department of Gastroenterology and Endoscopy centers, management of inpatients and outpatients, and annual volume and quality indicators of digestive endoscopy. Acute pancreatitis, gastrointestinal bleeding, inflammatory bowel disease, and cirrhosis were identified as priority diseases and were subjected to detailed analysis.
RESULTS:
Data from 4620 and 7074 hospitals were extracted from the NCIS and HQMS, respectively. In 2023, 9.6 gastroenterologists, 6.7 endoscopists, and 37.3 gastroenterology beds per hospital nationwide were observed, achieving 19,252.4 outpatient visits, 1615.2 hospitalizations (97.0 for acute pancreatitis, 146.1 for gastrointestinal bleeding, 40.2 for inflammatory bowel disease, and 111.4 for cirrhosis), and 9432.7 digestive endoscopic procedures per hospital. Overall, the quality of practice improved significantly. The proportion of early cancer among gastrointestinal cancers increased from 11.1% in 2015 to 23.4% in 2023, and the adenoma detection rate during colonoscopy increased from 19.3% in 2019 to 26.9% in 2023. Regarding priority diseases, hospitalizations increased, and 31-day unplanned readmission rates decreased between 2019 and 2023. The median hospitalization costs and median proportion of medication costs decreased for acute pancreatitis, gastrointestinal bleeding, and cirrhosis. However, it increased for inflammatory bowel disease.
CONCLUSION
This report evaluates the status quo and development of gastroenterology and digestive endoscopy in the Chinese mainland, providing guidance for future quality improvements.
Humans
;
China
;
Gastroenterology/statistics & numerical data*
;
Gastrointestinal Hemorrhage
;
Endoscopy, Gastrointestinal/statistics & numerical data*
;
Endoscopy, Digestive System/statistics & numerical data*
3.Traditional Chinese medicine understanding and treatment of acute myocardial infarction complicated with acute upper gastrointestinal bleeding.
Xing-Jiang XIONG ; Fu-Kun LUO ; Xiao-Ya WANG ; Yu LAN ; Peng-Qian WANG
China Journal of Chinese Materia Medica 2025;50(7):1969-1973
Acute myocardial infarction and acute upper gastrointestinal bleeding are both critical internal medicine conditions. The incidence of acute upper gastrointestinal bleeding in patients with acute myocardial infarction ranges from 5.31% to 8.90%, with a mortality rate as high as 20.50% to 35.70%. The pathogenesis may be related to the use of antiplatelet and anticoagulant drugs, as well as stress-induced injury. In treatment, the contradiction between antiplatelet/anticoagulation therapy and bleeding has made this disease a significant challenge in modern medicine. Therefore, re-exploring the etiology, pathogenesis, treatment principles, and methods of traditional Chinese medicine(TCM) for acute myocardial infarction and acute upper gastrointestinal bleeding is of great clinical importance. The research team has been working year-round in the coronary care unit(CCU), managing a large number of such severe patients. By revisiting classic texts and delving into the foundational theories of TCM and historical medical literature, it has been found that this disease falls under the category of "distant blood" in the Synopsis of the Golden Chamber. In terms of etiology, it is primarily associated with weakness of healthy Qi and damage caused by drug toxicity. In terms of pathogenesis, in the acute stage, it mainly manifests as insufficient spleen Yang, deficiency of spleen Qi, and failure of the spleen to control blood. In the remission stage, it is characterized by deficiency of both heart Qi and spleen blood. For treatment, during the acute stage, Huangtu Decoction is used to warm Yang and restrain blood, while in the remission stage, Guipi Decoction is administered to tonify Qi and nourish blood. During the treatment process, for patients with acute myocardial infarction complicated with acute upper gastrointestinal bleeding, it is crucial to flexibly apply the treatment principles of "Nil per os" in western medicine and "where there is stomach Qi, there is life; where there is no stomach Qi, there is death" in TCM. Early intervention with Huangtu Decoction can also prevent bleeding, with large doses being key to achieving hemostasis. It is important to address the pathogenesis of heat syndrome in addition to the core pathogenesis of Yang deficiency bleeding and to emphasize the follow-up treatment with Guipi Decoction for a successful outcome.
Humans
;
Gastrointestinal Hemorrhage/etiology*
;
Myocardial Infarction/drug therapy*
;
Drugs, Chinese Herbal/therapeutic use*
;
Medicine, Chinese Traditional
;
Acute Disease
4.Colonoscopy in infants: procedure and disease spectrum analysis of 184 cases.
Xiao-Li FU ; Xu-Xia WEI ; Jun-Jie XU ; Ning XUE ; Hong-Ling CHEN ; Le ZHANG
Chinese Journal of Contemporary Pediatrics 2025;27(8):917-922
OBJECTIVES:
To investigate the underlying causes and clinical manifestations in infants undergoing colonoscopy, and to analyze changes in disease spectrum.
METHODS:
Clinical data from 180 infants who underwent a total of 184 colonoscopies at the Department of Gastroenterology, Children's Hospital Affiliated to Shandong University from January 2015 to December 2024 were retrospectively analyzed. Patients were grouped by age: ≤6 months (n=41) and >6-12 months (n=139); and by examination period: 2015-2019 (n=83) and 2020-2024 (n=97). Primary causes for performing colonoscopy, final diagnoses, and disease spectrum evolution were assessed.
RESULTS:
Among 184 colonoscopies, the leading causes prompting examination were hematochezia (37.8%, 68/180), diarrhea (36.7%, 66/180), and co-occurring hematochezia and diarrhea (21.1%, 38/180). Causes for performing colonoscopy differed significantly by age group (P<0.05). Colonic polyps were only detected in the >6-12 months group (P<0.05). Compared to the 2015-2019 group, the 2020-2024 group had fewer food allergy-related gastrointestinal diseases (P<0.05) but more colitis (P<0.05).
CONCLUSIONS
Colonoscopy is essential for diagnosing infantile digestive disorders, with disease spectra varying by age and time period.
Humans
;
Infant
;
Colonoscopy
;
Male
;
Female
;
Retrospective Studies
;
Infant, Newborn
;
Diarrhea/etiology*
;
Gastrointestinal Hemorrhage/etiology*
5.Genetic analysis of a child with gastrointestinal hemorrhage and Cerebroretinal microangiopathy with calcifications and cysts and a literature review.
Tao JIANG ; Shuangjie LI ; Yanfang TAN ; Wenxian OUYANG
Chinese Journal of Medical Genetics 2025;42(4):486-494
OBJECTIVE:
To explore the clinical characteristics and genetic cause of a child with gastrointestinal hemorrhage and Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) and to review the literature.
METHODS:
Clinical data of a child with gastrointestinal hemorrhage with CRMCC admitted to the Hepatology Department of Hunan Children's Hospital in September 2019 were collected, and peripheral blood DNA of the child and his parents were analyzed by whole exome sequencing. Candidate variants were validated by Sanger sequencing, followed by bioinformatics analysis, American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants pathogenicity classification, and protein structure prediction. A literature search with "Coats Plus syndrome" or "Cerebroretinal microangiopathy with calcifications and cysts" as keywords was conducted at PubMed, China National Knowledge Infrastructure and Wanfang databases to include recently published studies (up to December 2023). This study has been approved by the Ethics Committee of Hunan Children's Hospital (Ethics No. KY2020-07). Informed consent for clinical research was obtained from the guardian of the child.
RESULTS:
The proband was a 10-year-10-month-old boy. The clinical manifestations were intrauterine and postnatal growth retardation, gastrointestinal hemorrhage, liver fibrosis, panhemopenia, bilateral exudative retinopathy, intracranial lesions and facial pigmentation. WES and Sanger sequencing revealed two novel heterozygous variants in the CTC1 gene: c.787G>A (p.Val263Met) in exon 5 and c.2930C>G (p.Ser977Cys) in exon 17, which were inherited from his mother and father, respectively. According to ACMG pathogenicity classification, both missense variants were classified as variants of uncertain significance (VUS). Protein structure prediction showed the absence of LIG_SH3_3 motif and LIG_SH3_3 motif, and the p.Ser977Cys mutation may affect the binding between CST (CTC1-STN1-TEN) complex and DNA strand. The child had continued to experience recurrent gastrointestinal bleeding episodes despite propranolol treatment, but the condition was controlled after liver transplantation. According to the predefined literature search strategy of this study, a total of 10 relevant articles on pediatric CRMCC patients were retrieved, involving 11 children with gastrointestinal bleeding. Pharmacological and endoscopic therapies play a certain role in the management of CRMCC children complicated with gastrointestinal bleeding.
CONCLUSION
The CTC1 gene c.787G>A and c.2930C>G variants probably underlay CRMCC in this child. This study has broadened the variation spectrum of CTC1-related diseases and provided a basis for genetic counseling. Liver transplantation may be an important treatment for gastrointestinal hemorrhage in children who do not respond well to medication and endoscopic therapy.
Humans
;
Male
;
Gastrointestinal Hemorrhage/genetics*
;
Child
;
Calcinosis/genetics*
;
Cysts/genetics*
;
Central Nervous System Cysts/genetics*
;
Mutation
;
Exome Sequencing
;
Leukoencephalopathies
;
Retinal Diseases
;
Seizures
;
Muscle Spasticity
;
Brain Neoplasms
;
Ataxia
6.McKrittick-Wheelock Syndrome: A case report
Philippine Journal of Surgical Specialties 2025;80(2):63-63
McKrittick-Wheelock syndrome refers to a condition characterized by a large rectal mass accompanied by excessive mucoid discharge and associated electrolyte imbalances, including hyponatremia and hypochloremia. This is a benign condition that can unexpectedly lead to serious illness in patients, making it essential for all clinicians to be aware of. We present the case of an 80-year-old female presented with a 4-year history of secretory diarrhea, hematochezia, enlarging fleshy rectal mass with copious mucoid discharge associated with hyponatremia and hypochloremia. Physical examination revealed a polypoid rectal mass secreting copious mucoid discharge with a 2cm base of stalk prolapsing 4cm FAV. The patient underwent rectal excision via trans-anal approach leading to resolution of symptoms. Postoperatively, the patient made a good recovery and was discharged. During follow-up, there was no recurrence of secretory diarrhea. Additionally, the dizziness and other symptoms had resolved. This case emphasizes the importance of recognizing McKittrick-Wheelock syndrome (MWS) when faced with a rectal mass presenting alongside chronic secretory diarrhea and associated electrolyte disturbances. Despite its rare occurrence, clinicians should consider this diagnosis in patients with a rectal mass to avoid delayed treatment and prevent serious complications.
Human ; Female ; Gastrointestinal Hemorrhage ; Hyponatremia ; Diarrhea ; Dizziness
7.Current Status and Research Progress in the Clinical Diagnosis and Treatment of Colorectal Juvenile Polyps.
Yan LI ; Jie FENG ; Li-Hong YANG ; Xiao-Jun HUANG
Acta Academiae Medicinae Sinicae 2023;45(6):973-979
Juvenile polyps(JP),also known as retention polyps,are the most common type of colorectal polyps and the main cause of lower gastrointestinal bleeding in children,with rare incidence in adults.In recent years,with the development and application of electronic colonoscopy,the detection rate of colorectal JP has gradually increased.It is generally accepted that JP is a benign hamartomatous lesion of the intestine,while it can cause complications such as massive hemorrhage of the lower digestive tract,anemia,intussusception,and intestinal obstruction.Moreover,there are reports about the canceration of JP.Therefore,it is necessary to improve the understanding and achieve early diagnosis and treatment of this disease.This article reviews the research progress in the epidemiological characteristics,pathogenesis,clinical manifestations,diagnosis and treatment methods,and canceration risk of JP.
Child
;
Adult
;
Humans
;
Colonoscopy/adverse effects*
;
Rectal Neoplasms
;
Gastrointestinal Hemorrhage
8.Association between gut microbiome and intracerebral hemorrhage based on genome-wide association study data.
Dihui LIN ; Xinpeng LIU ; Qi LI ; Jiabi QIN ; Zhendong XIONG ; Xinrui WU
Journal of Central South University(Medical Sciences) 2023;48(8):1176-1184
OBJECTIVES:
Intracerebral hemorrhage (ICH) has the highest mortality and disability rates among various subtypes of stroke. Previous studies have shown that the gut microbiome (GM) is closely related to the risk factors and pathological basis of ICH. This study aims to explore the causal effect of GM on ICH and the potential mechanisms.
METHODS:
Genome wide association study (GWAS) data on GM and ICH were obtained from Microbiome Genome and International Stroke Genetics Consortium. Based on the GWAS data, we first performed Mendelian randomization (MR) analysis to evaluate the causal association between GM and ICH. Then, a conditional false discovery rate (cFDR) method was conducted to identify the pleiotropic variants.
RESULTS:
MR analysis showed that Pasteurellales, Pasteurellaceae, and Haemophilus were negatively correlated with the risk of ICH, whileVerrucomicrobiae, Verrucomicrobiales, Verrucomicrobiaceae, Akkermansia, Holdemanella, and LachnospiraceaeUCG010 were positively correlated with ICH. By applying the cFDR method, 3 pleiotropic loci (rs331083, rs4315115, and rs12553325) were found to be associated with both GM and ICH.
CONCLUSIONS
There is a causal association and pleiotropic variants between GM and ICH.
Humans
;
Genome-Wide Association Study
;
Gastrointestinal Microbiome/genetics*
;
Genetic Predisposition to Disease
;
Cerebral Hemorrhage/genetics*
;
Stroke
10.Factors influencing bilirubin elevation and its correlation with UGT1A1 gene polymorphism in the early postoperative period of transjugular intrahepatic portosystemic shunt.
Bi Feng ZHANG ; Jian FANG ; Zhi Qiang ZHANG ; Xiu Lan AO ; Lei XIA ; Hai Cong WU ; Shi An ZHANG ; Zhi Xian WU ; Dong Liang LI
Chinese Journal of Hepatology 2023;31(5):524-531
Objective: To investigate the factors influencing total bilirubin elevation and its correlation with UGT1A1 gene polymorphism in the early postoperative period of transjugular intrahepatic portosystemic shunt (TIPS). Methods: 104 cases with portal hypertension and esophageal variceal hemorrhage (EVB) treated with elective TIPS treatment were selected as the study subjects and were divided into a bilirubin-elevated group and a normal bilirubin group according to the total bilirubin elevation level during the early postoperative period. Univariate analysis and logistic regression were used to analyze the factors influencing total bilirubin elevation in the early postoperative period. PCR amplification and first-generation sequencing technology were used to detect the polymorphic loci of the UGT1A1 gene promoter TATA box, enhancer c.-3279 T > G, c.211G > A, and c.686C > A. Logistic regression was used to analyze the correlation of four locus alleles and genotypes with elevated total bilirubin in the early postoperative period. Results: Among the 104 cases, 47 patients were in the bilirubin elevated group, including 35 males (74.5%) and 12 females (25.5%), aged (50.72 ± 12.56) years. There were 57 cases in the normal bilirubin group, including 42 males (73.7%) and 15 females (26.3%), aged (51.63 ± 11.10) years. There was no statistically significant difference in age (t = -0.391, P = 0.697) and gender (χ(2) = 0.008, P = 0.928) between the two groups of patients. Univariate analysis revealed that preoperative alanine transaminase (ALT) level (χ(2) = 5.954, P = 0.015), total bilirubin level (χ(2) = 16.638, P < 0.001), MELD score (χ(2) = 10.054, P = 0.018), Child-Pugh score (χ(2) = 6.844, P = 0.022), and postoperative portal vein branch development (χ(2) = 6.738, P = 0.034) were statistically significantly different between the two groups. Logistic regression analysis showed that preoperative ALT level, total bilirubin level, and portal vein branch development after TIPS were correlated with the elevated total bilirubin in the early postoperative period. The polymorphism of the c.211G > A locus of the UGT1A1 gene correlation had elevated total bilirubin in the early postoperative period of TIPS. The risk of elevated total bilirubin was increased in the population carrying allele A (P = 0.001, OR = 4.049) in the early postoperative period. Allelic polymorphisms in the TATA box promoter region and enhancer c.-3279 T > G and c.686C > A had no statistically significant difference between the bilirubin-elevated group and the normal bilirubin group. Conclusion: The preoperative ALT level, total bilirubin level, and portal vein branch development are correlated with the elevated total bilirubin in early postoperative patients. The polymorphisms of the UGT1A1 gene and enhancer c.211G > A are correlated with the occurrence of elevated total bilirubin in the early postoperative period of TIPS. Allele A carrier may have a higher risk of elevated total bilirubin in the early postoperative period.
Female
;
Humans
;
Male
;
Bilirubin
;
Esophageal and Gastric Varices
;
Gastrointestinal Hemorrhage/surgery*
;
Portasystemic Shunt, Transjugular Intrahepatic
;
Postoperative Period
;
Retrospective Studies
;
Treatment Outcome
;
Adult
;
Middle Aged
;
Glucuronosyltransferase/genetics*


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