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ObjectiveThis study aims to explore the clinical features, diagnosis, and treatment of infantile fibrosarcoma (IFS) associated with BRAF mutations, with the goal of enhancing clinicians’ understanding of this rare genetic variant and its relationship to IFS.MethodsThe China National Knowledge Infrastructure (CNKI), Wanfang Database, VIP Database, PubMed, and National Center for Biotechnology Information (NCBI) were searched using the keywords “infantile fibrosarcoma” and “congenital fibrosarcoma” for relevant articles published before August 2024. A total of 529 articles and 498 cases were identified, of which 48 articles and 149 cases were in Chinese and 479 articles and 349 cases were in foreign languages. Among them, 20 cases occurred in the gastrointestinal tract, with two cases associated with BRAF gene mutation. Combining the case reported in this paper, the clinical manifestations and treatment experience were summarized.ResultsThe patient was a male infant aged 5 months 18 days who presented with vomiting for 4 days. Preoperative abdominal ultrasonography revealed an abnormal hyper-echoic mass in the right upper abdomen. Exploratory laparotomy and complete tumor excision were performed. Pathological examination confirmed a diagnosis of IFS, with molecular analysis identifying a BRAF p.V600delinsDL mutation. Postoperative follow-up over 8 months showed no recurrence or metastasis on abdominal ultrasound. A review of this case alongside 20 reported cases of intestinal IFS revealed that intestinal perforation and obstruction were the most common presentations, with favorable overall prognoses.ConclusionIntestinal IFS is a rare soft tissue sarcoma predominantly occurring in early infancy. Cases involving the BRAF p.V600delinsDL mutation are even rarer. Treatment should be individualized, with complete surgical resection being the cornerstone of therapy. Prognosis remains favorable following complete excision.

Objectives Materials and Methods Results Conclusion This study aimed to investigate the characteristics of tertiary lymphoid structures (TLSs) in oral squamous cell carcinoma (OSCC) and their association with clinical and pathological features.12 TLS‐related chemokines in TCGA database were analyzed to investigate the TLSs in OSCC. The density, maturity, and location of TLSs in a large cohort of 189 OSCC patients (114 of which had clinical and prognostic information) were assessed. And the significance between TLSs and clinicopathologic characteristics was analyzed.Bioinformatics and analysis showed that TLSs were associated with better clinical outcomes in OSCC. Histological staining and analysis showed that the overall survival rate of the high‐density group (71/112, 63.4%) was significantly higher (p < 0.0001) than that of the low‐density group (41/112, 36.6%), and the high‐density group had fewer lymph node metastases (50.0%/68.3%, p = 0.021). And TLSs were divided into 4 types according to the maturity and location. Different types of TLSs are associated with prognosis (OS, p < 0.0001), clinical features (T stage, p = 0.028; degree of differentiation, p = 0.043), and precancerous lesion types (OSF, p = 0.049) of OSCC patients.TLSs were closely associated with better OSCC prognosis, and a more systematic classification may better guide the formulation of further treatment options. [ABSTRACT FROM AUTHOR]

Background: Colorectal cancer (CRC) screening is the most efficient strategy to reduce disease-related mortality. In this study, we aimed to investigate the association of a methylation-based stool DNA test with serum protein biomarker panel (CEA, CA125, CA199, and AFP) in CSC patients and their relationship with pathological features to improve the diagnostic efficacy and applicability in CSC in the Chinese population. Methods: In this double-blinded case-control study, we enrolled 150 participants from our hospital, including 50 CRC patients, 50 adenomas, and 50 healthy controls. We compared the cycling threshold (Ct) values of stool DNA-based SDC2 measured by quantitative methylation-specific PCR (MSP) in the three groups. We also evaluated the differences and correlation between serum concentrations of tumor biomarker and pathological features in patients with CSC, including TNM stage (I, II, III), tumor size, and lymph node metastasis. The discrimination performance of indexes was assessed using sensitivity, specificity, and the area under the receiver operating characteristic curve (AUC). Results: CSC was more common in middle-aged people and men. The methylation-based stool DNA test was not significantly correlated with other tumor indicators except CEA, and the difference was statistically significant. Compared with the normal control group, the combined diagnostic value of the methylation-based stool DNA test and tumor indicators was significantly higher than individual biomarkers alone, especially the methylation-based stool DNA test combined with CEA and AFP, which improved the AUC to 0.96. This combination can increase the positive rate of pathological stage diagnosis. Conclusions: Combining a methylation-based stool DNA test with CEA and AFP can significantly improve the diagnostic value of CRC and can be used to confirm the diagnosis of colorectal cancer. This combination can also be used as a reliable indicator identifying early-stage CRC patients and pathology. A large-scale study is underway to further define the clinical application of this method for the diagnosis of CRC among Chinese populations. [ABSTRACT FROM AUTHOR]

Purpose: This study aims to evaluate the clinical features of adenoma of the retinal pigment epithelium (RPE) and eye-sparing treatment for it. Methods: The patients underwent measurement of visual acuity and intraocular pressure, slit-lamp examination, ophthalmoscopy, fluorescein fundus angiography (FFA), indocyanine green angiography (ICGA), color Doppler imaging (CDI), and magnetic resonance imaging (MRI). The tumors were endoresected and studied histopathologically. Results: Of the 16 Asian patients, 15 had RPE adenoma and 1 had RPE adenocarcinoma. Visual acuity decreased in three cases, mainly due to the macular detachment. All tumors were solitary and unilateral and measured from 1.7 × 3.2 × 2.4 to 9.3 × 8.0 × 6.6 mm3. The tumor was located in the macular area in 2 patients, in the juxtapapillary area in 1 patient, and in the peripheral fundus in 13 patients. The tumors were yellow-pink in 3 patients and brown in 13 patients. The tumors showed hypofluorescence in early stage and mottled hyperfluorescence with prominent leakage in late stage on fluorescein angiography. CDI demonstrated arterial blood signals within tumor, and MRI demonstrated hyperintensity and hypointensity in the T1- and T2-weighted images, respectively. The tumors were positive for S-100, neuron-specific enolase (NSE), CK, epithelial membrane antigen (EMA), and vimentin; occasionally positive for melanin-A; and usually negative for melanoma-specific antigen HMB45 and synaptophysin (Syn). The endoresection surgery was performed in all 16 patients by the microinvasive vitrectomy for the excision of intraocular tumors and reconstruction of the eyeball. The follow-up time was 1.5–13 years (mean, 5 years). No tumor recurrence occurred, and the retina remained attached in 16 eyes. Conclusions: RPE-derived adenomas are rare and difficult to diagnose clinically. Local resection by the mircoinvasive vitrectomy is a feasible alternative treatment for RPE adenoma. [ABSTRACT FROM AUTHOR]

Background & Aims: Bu Gu Zhi (BGZ) is a Chinese herb consumed mainly for osteoporosis treatment. Only small case series of BGZ‐induced liver injury (BGZILI) have been reported. We describe the clinicopathological features and clinical course of BGZILI. Methods: Patients diagnosed with drug‐induced liver injury (DILI) at Beijing Friendship Hospital from 2005 to 2017 were reviewed. Clinical and follow‐up data were analysed. Results: Of the 547 DILI patients, 40 cases (7.3%) were attributed to BGZILI. About 34/40 (85.0%) patients were females with a median age of 63 (range, 54‐70) years. The median latency period was 45 (range, 29‐90) days. Patients commonly presented with loss of appetite (57.5%), dark urine (57.5%) and fatigue (55.0%). The median level of alanine aminotransferase and aspartate aminotransferase at BGZILI onset was 673.5 and 423.0 U/L respectively. Total bilirubin (TB) and direct bilirubin (DB) were 59.0 and 39.4 µmol/L respectively. The biochemical liver injury pattern was hepatocellular (92.5%), cholestatic (5.0%) and mixed (2.5%). They were categorized into 'mild' (N = 23, 57.5%), 'moderate' (6, 15.0%) or 'severe' (11, 27.5%) according to severity assessment by DILI network. The main histological injury pattern in 9/40 patients with liver biopsy was acute hepatitis with/without cholestasis. Median duration of follow‐up was 26.3 months with recovery in 37 patients within 6 months. No patients died or required transplantation. Conclusions: BGZ‐induced liver injury manifested more often as a hepatocellular injury pattern with mild to moderate hepatocellular damage. Most patients recovered after cessation of BGZ within 6 months, and none developed end‐stage liver disease or died. [ABSTRACT FROM AUTHOR]

Objective: The incidence of breast cancer in females is gradually increasing. Expression of HER-2 gene and protein is critical for predicting the prognosis of breast cancer. This study examined amplification of HER-2 gene and protein expression in breast cancer patients to analyze their correlation with clinical and pathological features.Materials and Methods: Specimens of breast gland tissues were collected from breast cancer patients for measuring HER-2 protein expression by immunohistochemistry (IHC) method. Fluorescent in situ hybridization (FISH) measured HER-2 gene amplification. The consistency of HER-2 protein and gene expression was analyzed in addition to their correlation with clinical and pathological features of patients.Results: Thirty-six percent patients showed negative expression of HER-2 protein, and 9%, 32%, and 23% of them had positive expression to different levels (+, ++, and +++). Forty percent patients were positive for HER-2 gene amplification, including 3, 21, and 14 cases of (+), (++), and (+++) patients. Expression of HER-2 protein was highly correlated with HER-2 gene amplification (r = 1.262; p < 0.05). Both parameters were correlated with tumor size, differentiation grade, lymph node metastasis, and TNM stage (p < 0.05).Conclusions: Combined assay of IHC and FISH for detecting HER-2 protein or gene amplification in breast cancer tissues showed their correlation with tumor size, differentiation grade, lymph node metastasis, and TNM stage. [ABSTRACT FROM AUTHOR]

Background and Objective: Colorectal serrated polyp is considered as histologically heterogeneous lesions with malignant potential. The aim of the study was to evaluate the endoscopic, clinic and pathologic characteristics of colorectal serrated polyps. Methods: The endoscopic, clinic and pathologic characteristics of 52 cases with colorectal serrated polyps between January 2014 and May 2018 in our hospital were analyzed. retrospectively. Results: The prevalence of serrated polyps was 0.39% (52/13,346). The proportions of hyperplastic polyp (HP), sessile serrated adenoma/polyp (SSA/P), and traditional serrated adenoma (TSA) of all serrated polyps were 61.5%, 17.3%, and 21.2%, respectively, which showed a lower proportion of TSA and SSA/P and a higher proportion of HP. Conclusions: The overall detection rate of colorectal serrated polyps was relatively low, and it is necessary to discriminate between SSAPs and HPs during endoscopic examination because of the malignant potential. [ABSTRACT FROM AUTHOR]

Aim: Acute myeloid leukemia (AML) is a type of malignancy that is associated with a malignant alteration of normal hematopoietic stem cells in the bone marrow. The aim of this study was to study the demographics and pathological subtypes of AML, evaluate the response and outcome to different treatment modalities. Methods: This was a retrospective study of adult patients diagnosed with AML at King Abdulaziz Medical City - Riyadh, between 2006 and 2013. Data were retrieved from patients′ files, electronic medical files and laboratory information system. Results: 91 patients were included in the study with a male dominance. M1 was the most common French-American-British subtype with 23 (32%) cases. Patients with intermediate-risk AML were the most common subgroup with 41 (48%) cases followed by high and low-risk subgroups, 29 (33%) and 16 (19%), respectively. 74 patients were treated with intensive chemotherapy, and 17 were on palliative chemotherapy or best supportive treatment. Remission rate was found to be 84% in patients who received induction chemotherapy while 41% of them relapsed. 93% of low-risk patients underwent complete remission (CR) compared to intermediate and high-risk patients (79% and 87% respectively), but it was not statistically significant (P = 0.4). The median follow-up was 19 months, with overall survival (OS) of 46% for all groups. The low-risk patients had the highest OS 57% compared to intermediate and high risk (52% and 36%, respectively), but it was not statistically significant (P = 0.3). 18 patients had been treated with allogeneic stem cell transplant and at a median follow-up of 17 months posttransplant the OS was 72%. Conclusion: This study shows M1 subtype to be the most common of AML in this population. In addition, the CR was better with similar survival rate as compared to other local and internationally published experiences. These results, albeit with its limitations, need to be confirmed in a prospective clinical trial or national disease registry.

Objective To analyze the clinical and pathological characteristics and prognosis of breast cancer in women aged 35 years and younger. Methods The clinical data of 105 breast cancer patients (≤35 years) who received comprehensive standardized treatment in our hospital in 2008 were retrospectively analyzed. And the clinical data of 103 breast cancer patients aged 65-70 years treated in our hospital during the same year were chosen as control group. Results During the follow-up period, local recurrence and metastasis were found in 25 patients (23.8%), and dead in 17 cases (16.2%) in young group. In elderly group, local recurrence or metastasis were found in 8 patients (16.2%) and dead in 9 cases (8.7%). Compared with elderly group, the primary tumor diameter was large, the histological grade was high and the mutation rate of P53 was higher in the younger group (P < 0.05). The 5-year disease-free survival rate was lower in the young group than that of the elderly group (76.2% vs. 92.2% , Log- rank χ2=9.799，P=0.002). There was no significant difference in the 5-year overall survival rate between the two groups (83.8% vs. 91.3%, Log-rank χ2=2.758, P=0.097). Cox multivariate analysis showed that tumor diameter and axillary lymph node metastasis were independent prognostic factors influencing 5- year disease-free survival rate in young group. The positive expression of P53 and axillary lymph node metastasis were independent prognostic factors influencing 5-year overall survival rate in young group. Conclusion Our study indicates that the histological grade of breast cancer is higher and the prognosis is even worse in young patients. Therefore, young women with the high risk of breast cancer need to be targeted for prevention and screening strategies to develop individualized treatment programs. [ABSTRACT FROM AUTHOR]

Abstract: “Focal ischemic glomerulosclerosis clustering (FIGSC)” is a term used by us temporarily to describe a rare kind of focal renal scar with a high percentage of global sclerosis in the renal biopsy tissue. We retrospectively studied the clinical and pathological data from 15 cases of FIGSC followed up in order to avoid overdiagnosis and to investigate its diagnostic basis. We found that in 7 cases with FIGSC, the percentage of global sclerosis was higher than 50% with mild or moderate tubulointerstitial lesions, and most cases showed sclerotic regions distributed both beneath the renal capsule and in the deep cortex. Fourteen cases of afferent arterioles sclerosis were observed. Fourteen did not evolve to end-stage renal disease (ESRD) during the follow-up period. The values of the percentage of severe tubulointerstitial lesion, SCr, BUN, and the cumulative incidence of ESRD were significantly lower compared to the diffuse proliferative sclerosis glomerulonephritis group (P <0.05). The results suggest that the essence of FIGSC may be a kind of focal renal scar related to sclerosis, stenosis or obstruction of several adjacent afferent arterioles, not caused by original glomerulonephritis. Comprehensive understanding should be very important to avoid overdiagnosis and overtreatment. [Copyright &y& Elsevier]

Objective: To evaluate clinico-pathological features and prognostic valuses of Endometrial stromal sarcomas (ESS) through comparison of the two grade groups (low- and high-grade disease). Methodology: We retrospectively analyzed the medical records of 27 patients who were diagnosed with ESS at a single institute between March 1988 and November 2009. Our retrospective chart review was approved by our local institutional Review Board (IRB). Results: The median age of the patients was 44.0 years, the median follow-up period was 101.0 months and the 10-year survival rate was 74.2%. The median uterine weight was 215.0 gm. Twenty-three (70.4%) and four patients (29.6%) had low- and high-grade disease, respectively. As primary treatment, twenty-four (70.4%) and three patients (11.1%) underwent type I hysterectomy and type III hysterectomy, respectively. Total six cases were recurred and two cases of the six-recurred patients were distant metastasis (lung) and four cases were died of the disease. Univariate analysis revealed that the histologic grade and the uterine tumor weight were significantly related with longer disease-free survival (p=0.025 and 0.043 respectively). Conclusion: ESSs with high-grade or larger tumor size have to be carefully and sufficiently managed, because of its rarity and aggressive behavior. To determine the proper adjuvant treatment of ESS with high risks, further clinical data should be collected and studied. [ABSTRACT FROM AUTHOR]

Background: The aim of this study was to evaluate the clinical and pathological features of a rare tumor, primary fallopian tube carcinoma (PFTC). Materials and methods: We retrospectively analyzed the medical records of 26 patients who were diagnosed with PFTC at Cheil General Hospital and Women's Healthcare Center between March 1992 and November 2009. Results: Median patient age was 54.6 (range 41-69) years, and the mean follow-up period was 59.8 (range 3-200) months. Twenty-one (80.8%) patients had one or more of the following preoperative symptoms: vaginal bleeding, abdominal pain, or a palpable mass. No patient was diagnosed with PFTC preoperatively; 17 (65.4%) patients were diagnosed as having an adnexal mass, six (23.1%) had hydrosalpinx, and three (11.5%) had coexisting endometrial pathology. In seven (26.9%) cases, PFTC was missed during the operation, so an additional surgery was later performed. Ten (38.5%) patients were in stage I, two (7.7%) in stage II, 13 (50%) in stage III, and one (3.8%) in stage IV. The serous type was histologically predominant (76.9%), and most were high grade (76.9%). The 5-year survival rate was 81.7%. Conclusion: Primary fallopian tube carcinoma is hardly ever diagnosed preoperatively or intraoperatively due to its rarity. Our report may help surgeons by providing more information about the clinicopathological behavior of PTFC so that patients can be appropriately counseled. Further clinical studies should be performed to collect more information about this rare tumor. [ABSTRACT FROM AUTHOR]

Oxaliplatin (OXA) is a third-generation platinum anticancer drug that is mainly used for the treatment of metastatic colorectal cancer (CRC). Of note, hepatic sinusoidal obstruction syndrome (HSOS) induced by OXA has become a key concern for patients with CRC receiving chemotherapy with OXA in recent years. Splenomegaly, thrombocytopenia, abnormal liver function, and portal hypertension are some of the main clinical characteristics seen in patients with OXA-induced HSOS. Previous studies have suggested that oxidative stress, inflammatory damage, liver fibrosis, and platelet aggregation and adhesion may be involved in the pathogenesis of OXA-induced HSOS. Currently, there are no specific drugs for prevention and treatment of OXA-induced HSOS. In this review, we summarized the epidemiology, pathological characteristics, clinical predictive indicators, related mechanisms, possible prevention and treatment of OXA-related HSOS. [ABSTRACT FROM AUTHOR]

Introduction: Rhabdoid meningioma (RM) is rare, and it occurs mainly in children. We report the clinical and pathological features of rhabdoid meningioma in a 9-year-old child. Material and methods: A 9-year-old child with RM presented to our hospital with headache that had persisted for 3 days. Magnetic resonance imaging of his brain demonstrated supratentorial lesions of the right temporal petrous bone and cisterna magna cyst. He underwent surgery on January 13, 2010. The pathological diagnosis was rhabdoid meningioma (grade III). The patient underwent radiotherapy with 30 Gy/16 fractions delivered to the recurrent tumor after surgery. The patient died in December as a result of complications of recurrent meningioma. Conclusion: The accumulated data, including this current case, demonstrate the difficulties in reaching the diagnosis and providing treatment for this disease as a consequence of its low incidence, aggressive nature, and poor treatment options for children with rhabdoid meningioma. [ABSTRACT FROM AUTHOR]

Objective: Serrated adenoma is recognized as a precancerous lesion of colorectal cancer, and the serrated pathway is considered as an important pathway that can independently develop into colorectal cancer. However, little is known about the related risk factors of carcinogenesis of serrated adenoma. The purpose of this study was to analyze the distribution characteristics and potential malignant factors of serrated adenoma in the colon and rectum. Methods: A retrospective case-control study was conducted to collect the clinical data of patients with serrated adenoma who underwent colonoscopy and were pathologically diagnosed in the Cancer Hospital of Chinese Academy of Medical Sciences from April 2017 to July 2019, and exclude patients with two or more pathological types of lesions. The clinical characteristics of serrated adenoma were summarized, and univariate and logistic multivariate regression analysis was conducted to explore the influencing factors for serrated adenoma to develop malignant transformation. Results: Among 28 730 patients undergoing colonoscopy, 311 (1.08%) were found with 372 serrated adenomas, among which 22 (5.9%) were sessile serrated adenomas/polyps, 84 (22.6%) were traditional serrated adenomas, and 266 (71.5%) were unclassified serrated adenomas according to WHO classification. The pathological results showed that 106 (28.5%) lesions were non-dysplasia, 228 (61.3%) lesions were low grade intraepithelial neoplasia, and 38 (10.2%) lesions were high grade intraepithelial neoplasia or cancer. There were 204 (54.8%) lesions with long-axis diameter <10 mm and 168 (45.2%) lesions with length long-axis ≥ 10 mm. 238 (64.0%) lesions were found in the left side colon and rectum and 134 (36.0%) lesions in the right side colon. Gross classification under endoscopy: 16 flat type lesions (4.3%), 174 sessile lesions (46.8%), 117 semi-pedunculated lesions (31.5%), 59 pedunculated lesions (15.9%). Narrow-band imaging international colorectal endoscopic (NICE) classification: 85 (22.8%) type I lesions, 280 (75.3%) type II lesions, 4 (1.1%) type III lesions. Univariate analysis showed that lesion size, lesion location, lesion site and different WHO classifications were associated with malignant transformation of colorectal serrated adenoma (all P <0.05). For the serrated adenomas with different NICE classifications, there were statistically significant differences in the distribution of malignant lesions among groups ( P =0.001). Multivariate analysis showed that the long-axis diameter of the lesion ≥10 mm (OR=6.699, 95% CI: 2.843-15.786) and the lesion locating in the left side colorectum (OR=2.657, 95% CI: 1.042-6.775) were independent risk factors for malignant transformation. Conclusions: Serrated adenomas mainly locate in the left side colon and rectum, and are prone to malignant transformation when the lesions are ≥10 mm in long-axis diameter or left-sided.