Familial Adenomatous Polyposis (FAP) is a multi-tumoral syndrome that includes neoplasms in the duodenum, brain, pancreas and thyroid. The Cribriform Morular Variant (CMV) is a rare form of Papillary Thyroid Cancer seen in patients with FAP. Presented here is a 32 year old female who initially presented with an anterior neck mass followed years later by a rectal mass. She was diagnosed with FAP and colorectal adenocarcinoma and underwent total proctocolectomy with end ileostomy. She subsequently underwent a total thyroidectomy which revealed CMV Papillary Thyroid Carcinoma (CMV-PTC). Since FAP can have diverse presentations, a high index of suspicion is needed in order to make an earlier diagnosis to reduce potential morbidity and mortality. Papillary thyroid carcinoma can predate colonic polyposis. Identifying CMV-PTC early on can serve as an opportunity diagnose FAP early.

INTRODUCTION

Malignant melanoma is most commonly found on the skin and rarely occurs in the rectal region. This case illustrates that rectal melanoma can be misdiagnosed as hemorrhoids. It also aims to add knowledge to possible treatment options for rectal melanoma.

We report a case of a 77-year-old Filipino adult presenting with rectal bleeding for three weeks. He underwent sigmoidoscopy that showed thrombosed hemorrhoids; however, subsequent surgical excision biopsy histopathology and immunohistochemistry revealed features compatible with malignant melanoma (HMB45, Melan A, and Cytokeratin positive; CDX2 negative). Staging workup done, including abdominal magnetic resonance imaging (MRI) with IV contrast and chest computed tomography (CT), showed distant metastases. He was then started on pembrolizumab but follow up imaging showed recurrence of the rectal melanoma and progression of metastases. Molecular testing done revealed c KIT/ CD117 positive results, hence, treatment was shifted to imatinib.

It was seen that rectal melanoma is an aggressive disease; therefore, multidisciplinary management is crucial to yield the best possible outcome, despite its poor prognosis. Such as in this case, using immunotherapy (Pembrolizumab) and targeted therapy (Imatinib) still have inconsistent outcomes, thus, further studies should be pursued. In this patient, both pembrolizumab and imatinib post-surgery resulted to recurrence of the rectal tumor and progression of hepatic and osseous metastases.

Background and Objective: Colorectal cancer (CRC) is the third most commonly diagnosed cancer and the fourth leading cause of cancer mortality worldwide. Likewise in the Philippines, the prevalence of CRC has shown to be increasing. Colonoscopy, a screening procedure for CRC, has parameters to gauge quality of detection. One of which is the Adenoma Detection Rate (ADR). Higher ADR has been linked to improved cancer detection. This study aimed to determine the ADR and Polyp Detection Rate (PDR) among Gastroenterology practitioners in a tertiary government university hospital in the Philippines, estimate ADR from PDR, and identify factors associated with ADR. Methods: An analytical, cross-sectional study among patients who underwent colonoscopy for the years 2021 and the first half of 2022 at the Central Endoscopy Unit (CENDU) of the Philippine General Hospital. Demographic data of fellows and consultants were collected through an online form, while those from patients were obtained from electronic records. Colonoscopy details and histopathology results were accessed through the hospital’s Open Medical Record System (MRS). ADR, PDR, and estimated ADR were computed using established formulas. To evaluate the strength of the relationship between the estimated and actual ADR, Pearson’s correlation coefficient was used. Chi-square analysis, Mann-Whitney U test, and Kruskal-Wallis H test were performed to identify the factors that might influence the ADR. A cut-off of p < 0.05 was considered statistically significant. Results: The total computed ADR of consultants and fellows combined is 22%. The difference between the ADRs of Gastroenterology consultants and Fellows-in-Training is statistically significant at 31.6% and 18.7%, respectively (p= 0.017). The total Polyp Detection Rate is 57.6% while the weighted group average Adenoma to Polyp Detection Rate Quotient (APDRQ) is 0.4085 or 40.85%. The estimated ADR has a moderate degree of correlation with the actual ADR when an outlier was excluded (r=0.521 (95% CI, 0.072-0.795, p=0.0266). Significant factors related to ADR include endoscopists’ years of practice (p=0.020), number of colonoscopies done (p=0.031), and patient tobacco use (p=0.014). Conclusion The overall ADR among consultants and fellows is at par with the standard guidelines. A moderate degree of correlation exists between actual and estimated ADR when an outlier is excluded; however, more studies are needed to determine the APDRQ in the wider local setting. Longer years in practice, total number of colonoscopies performed, and patient tobacco use are associated with increased ADR.
Adenoma ; Colonic Polyps ; Colorectal Neoplasms ; Colonoscopy

BACKGROUND AND OBJECTIVE

Colorectal cancer (CRC) is the third most commonly diagnosed cancer and the fourth leading cause of cancer mortality worldwide. Likewise in the Philippines, the prevalence of CRC has shown to be increasing. Colonoscopy, a screening procedure for CRC, has parameters to gauge quality of detection. One of which is the Adenoma Detection Rate (ADR). Higher ADR has been linked to improved cancer detection. This study aimed to determine the ADR and Polyp Detection Rate (PDR) among Gastroenterology practitioners in a tertiary government university hospital in the Philippines, estimate ADR from PDR, and identify factors associated with ADR.

An analytical, cross-sectional study among patients who underwent colonoscopy for the years 2021 and the first half of 2022 at the Central Endoscopy Unit (CENDU) of the Philippine General Hospital. Demographic data of fellows and consultants were collected through an online form, while those from patients were obtained from electronic records. Colonoscopy details and histopathology results were accessed through the hospital’s Open Medical Record System (MRS). ADR, PDR, and estimated ADR were computed using established formulas. To evaluate the strength of the relationship between the estimated and actual ADR, Pearson’s correlation coefficient was used. Chi-square analysis, Mann-Whitney U test, and Kruskal-Wallis H test were performed to identify the factors that might influence the ADR. A cut-off of p < 0.05 was considered statistically significant.

The total computed ADR of consultants and fellows combined is 22%. The difference between the ADRs of Gastroenterology consultants and Fellows-in-Training is statistically significant at 31.6% and 18.7%, respectively (p= 0.017). The total Polyp Detection Rate is 57.6% while the weighted group average Adenoma to Polyp Detection Rate Quotient (APDRQ) is 0.4085 or 40.85%. The estimated ADR has a moderate degree of correlation with the actual ADR when an outlier was excluded (r=0.521 (95% CI, 0.072-0.795, p=0.0266). Significant factors related to ADR include endoscopists’ years of practice (p=0.020), number of colonoscopies done (p=0.031), and patient tobacco use (p=0.014).

The overall ADR among consultants and fellows is at par with the standard guidelines. A moderate degree of correlation exists between actual and estimated ADR when an outlier is excluded; however, more studies are needed to determine the APDRQ in the wider local setting. Longer years in practice, total number of colonoscopies performed, and patient tobacco use are associated with increased ADR.

Humans ; Colonic Neoplasms/surgery* ; Rectal Neoplasms/surgery* ; Laparoscopy ; Treatment Outcome ; Retrospective Studies

Objective To investigate the clinical significance of thrombospondin type 1 domain-containing 7A (THSD7A) and neural epidermal growth factor-like 1 protein (NELL1) in phospholipase A2 receptor (PLA2R)-negative membranous nephropathy (MN). Methods A total of 116 PLA2R-negative MN patients treated in Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University from 2014 to 2021 were enrolled in this study.Immunohistochemistry was employed to detect THSD7A and NELL1 in the renal tissue.The pathological characteristics,treatment,and prognosis were compared between positive and negative groups. Results The 116 PLA2R-negative MN patients included 23 THSD7A-positive patients and 9 NELL1-positive patients.One patient was tested positive for both proteins.The THSD7A-positive group showed higher positive rate of IgG4 (P=0.010),more obvious glomerular basement membrane (GBM) thickening (P=0.034),and higher proportion of stage Ⅱ MN and lower proportion of stage I MN (P=0.002) than the THSD7A-negative group.The NELL1-positive group had lower positive rates of C1q and IgG2 (P=0.029,P=0.001),less obvious GBM thickening (P<0.001),more extensive inflammatory cell infiltration (P=0.033),lower proportion of deposits on multi-locations (P=0.001),and lower proportion of atypical MN (P=0.010) than the NELL1-negative group.One patient with THSD7A-positive MN was diagnosed with colon cancer,while none of the NELL1-positive patients had malignancy.Survival analysis suggested that THSD7A-positive MN had worse composite remission (either complete remission or partial remission) of nephrotic syndrome than the negative group (P=0.016),whereas NELL1-positive MN exhibited better composite remission of nephrotic syndrome than the negative group (P=0.015).The MN patients only positive for NELL1 showed better composite remission of nephrotic syndrome than the MN patients only positive for THSD7A (P<0.001). Conclusions THSD7A- and NELL1-positive MN is more likely to be primary MN,and there is no significant malignancy indication.However,it might have a predictive value for the prognosis of MN.
Humans ; Autoantibodies ; Clinical Relevance ; Colonic Neoplasms ; EGF Family of Proteins ; Glomerulonephritis, Membranous/diagnosis* ; Nephrotic Syndrome ; Receptors, Phospholipase A2/metabolism* ; Thrombospondins/metabolism*

The study aimed to investigate the effect of anemoside B4(B4) on fatty acid metabolism in mice with colitis-associated cancer(CAC). The CAC model was established by azoxymethane(AOM)/dextran sodium sulfate(DSS) in mice. Mice were randomly divided into a normal group, a model group, and low-, medium-, and high-dose anemoside B4 groups. After the experiment, the length of the mouse colon and the size of the tumor were measured, and the pathological alterations in the mouse colon were observed using hematoxylin-eosin(HE) staining. The slices of the colon tumor were obtained for spatial metabolome analysis to analyze the distribution of fatty acid metabolism-related substances in the tumor. The mRNA levels of SREBP-1, FAS, ACCα, SCD-1, PPARα, ACOX, UCP-2, and CPT-1 were determined by real-time quantitative PCR(RT-qPCR). The results revealed that the model group showed decreased body weight(P<0.05) and colon length(P<0.001), increased number of tumors, and increased pathological score(P<0.01). Spatial metabolome analysis revealed that the content of fatty acids and their derivatives, carnitine, and phospholipid in the colon tumor was increased. RT-qPCR results indicated that fatty acid de novo synthesis and β-oxidation-related genes, such as SREBP-1, FASN, ACCα, SCD-1, ACOX, UCP-2, and CPT-1 mRNA expression levels increased considerably(P<0.05, P<0.001). After anemoside B4 administration, the colon length increased(P<0.01), and the number of tumors decreased in the high-dose anemoside B4 group(P<0.05). Additionally, spatial metabolome analysis showed that anemoside B4 could decrease the content of fatty acids and their derivatives, carnitine, and phospholipids in colon tumors. Meanwhile, anemoside B4 could also down-regulate the expression of FASN, ACCα, SCD-1, PPARα, ACOX, UCP-2, and CPT-1 in the colon(P<0.05, P<0.01, P<0.001). The findings of this study show that anemoside B4 may inhibit CAC via regulating fatty acid metabolism reprogramming.
Mice ; Animals ; Sterol Regulatory Element Binding Protein 1 ; Colitis-Associated Neoplasms ; PPAR alpha/genetics* ; Colonic Neoplasms/genetics* ; Colon ; Azoxymethane ; RNA, Messenger ; Dextran Sulfate ; Colitis/drug therapy* ; Mice, Inbred C57BL ; Disease Models, Animal

This study aimed to analyze the effect of Bletilla striata polysaccharide(BSP) on endogenous metabolites in serum of tumor-bearing mice treated with 5-fluorouracil(5-FU) by untargeted metabolomics techniques and explore the mechanism of BSP in alleviating the toxic and side effects induced by 5-FU. Male BALB/C mice were randomly divided into a normal group, a model group, a 5-FU group, and a 5-FU + BSP group, with eight mice in each group. Mouse colon cancer cells(CT26) were transplanted into the mice except for those in the normal group to construct the tumor-bearing mouse model by subcutaneous injection, and 5-FU chemotherapy and BSP treatment were carried out from the second day of modeling. The changes in body weight, diarrhea, and white blood cell count in the peripheral blood were recorded. The mice were sacrificed and sampled when the tumor weight of mice in the model group reached approximately 1 g. TUNEL staining was used to detect the cell apoptosis in the small intestine of each group. The proportions of hematopoietic stem cells and myeloid progenitor cells in bone marrow were measured by flow cytometry. Five serum samples were selected randomly from each group for untargeted metabolomics analysis. The results showed that BSP was not effective in inhibiting colon cancer in mice, but diarrhea, leukopenia, and weight loss caused by 5-FU chemotherapy were significantly improved after BSP intervention. In addition, apoptotic cells decreased in the small intestinal tissues and the percentages of hematopoietic stem cells and myeloid progenitor cells in bone marrow were significantly higher after BSP treatment. Metabolomics results showed that the toxic and side effects of 5-FU resulted in significant decrease in 29 metabolites and significant increase in 22 metabolites in mouse serum. Among them, 19 disordered metabolites showed a return to normal levels in the 5-FU+BSP group. The results of pathway enrichment indicated that metabolic pathways mainly involved pyrimidine metabolism, arachidonic acid metabolism, and steroid hormone biosynthesis. Therefore, BSP may ameliorate the toxic and side effects of 5-FU in the intestinal tract and bone marrow presumably by regulating nucleotide synthesis, inflammatory damage, and hormone production.
Animals ; Male ; Mice ; Colonic Neoplasms/drug therapy* ; Diarrhea ; Fluorouracil/adverse effects* ; Hormones ; Metabolomics ; Mice, Inbred BALB C ; Polysaccharides/pharmacology*

Objective To identify immune-related molecular markers in an attempt to predict prognosis of colon adenocarcinoma (COAD). Methods Immune related genes (IREGs) was analyzed based on the TCGA database. Weighted gene co-expression network analysis (WGCNA) and Cox regression analysis were used to establish risk models. According to the median risk score, COAD patients were divided into high risk and low risk groups. The prognostic difference were compared between the two groups. The function of the model was validated using GEO. Results A total of 1015 IREGs was obtained. The established model consisted of three genes: RAR related orphan receptor C (RORC), leucine-rich repeat Fli-I-interacting protein 2 (LRRFIP2) and lectin galactoside-binding soluble galectin 4 (LGALS4). The high-risk group had significantly poorer prognosis than low-risk group in the GEO database, and it was validated using a GEO database. Further analysis via univariate and multivariate Cox regression analyses revealed that risk model could function as independent prognostic factor for COAD patients. Conclusion The risk model based on IREGs can predict the prognosis of patients with COAD.
Humans ; Prognosis ; Adenocarcinoma/genetics* ; Colonic Neoplasms/genetics* ; Gene Expression Profiling ; Lectins

Intersphincteric resection (ISR) is the ultimate sphincter-preserving surgical technique for low rectal cancer. Accurate preoperative diagnosis and staging, appropriate selection of surgical approaches and technique, standardized perioperative management, and postoperative rehabilitation are the keys to ensuring the oncological effect and functional preservation of ISR. To date, there is still a lack of standardized guidance on the clinical implementation of ISR in China. Therefore, based on the latest evidence from literature, expert experience, and the intervention situation in China, the Chinese Society of Colorectal Surgery, Chinese Society of Surgery, Chinese Medical Association organized domestic experts in colorectal surgery to discuss and produce "Chinese expert consensus on intersphincteric resection for low rectal cancer (2023 edition)". This consensus focuses on definition, classification, related pelvic anatomy, operational techniques, postoperative complications, and long-term oncological and functional outcomes, and aims to guide the standardized clinical practice of ISR in the operation of low rectal cancer in China.
Humans ; Laparoscopy/methods* ; Consensus ; Anal Canal/surgery* ; Digestive System Surgical Procedures/methods* ; Rectal Neoplasms/surgery* ; Treatment Outcome