World journal of clinical oncology最新文献

Background: The prevalence of germline pathogenic variants in high hereditary risk breast and/or ovarian cancer patients and unaffected subjects referred for testing is an unmet need in low and middle-income countries.

Aim: To determine the prevalence of germline pathogenic variants in high hereditary risk patients with breast and/or ovarian cancer and unaffected individuals.

Methods: We retrospectively reviewed records of patients and unaffected subjects referred for germline pathogenic variant testing due to high hereditary risk between 2010-2020. Data was collected and analyzed on Excel sheet.

Results: In total, 358 individuals were included, including 257 patients and 101 unaffected individuals with relatives with breast or ovarian cancer. The prevalence of breast cancer susceptibility gene (BRCA) 1/2 pathogenic variants was 8.63% (19/220) in patients with breast cancer, and 15.1% (5/33) in those with ovarian cancer. Among the 25 of 220 patients with breast cancer tested by next-generation sequencing, 3 patients had pathogenic variants other than BRCA1/2. The highest risk was observed in those aged 40 years with breast cancer and a positive family history, where the BRCA1/2 prevalence was 20.1% (9/43). Among the unaffected subjects, 31.1% (14/45) had the same BRCA1/2 pathogenic variants in their corresponding relatives. Among the subjects referred because of a positive family history of cancer without known hereditary factors, 5.35% (3/56) had pathogenic variants of BRCA1 and BRCA2. The c.131G>T nucleotide change was noted in one patient and two unrelated unaffected subjects with a BRCA1 pathogenic variant.

Conclusion: This study showed a 8.63% prevalence of pathogenic variants in patients with breast cancer and a 15.1% prevalence in patients with ovarian cancer. Among the relatives of patients with BRCA1/2 pathogenic variants, 31% tested positive for the same variant, while 5.3% of subjects who tested positive due to a family history of breast cancer had a BRCA pathogenic variant.

Background: Cervical cancer is the second leading cause of death in women worldwide, second only to breast cancer. Around 80% of women have been infected with human papillomavirus (HPV) in their lifetime. Early screening and treatment are effective means of preventing cervical cancer, but due to economic reasons, many parts of the world do not have free screening programs to protect women's health.

Aim: To increase HPV cervical cancer screening in Changsha and reduce the incidence of cervical cancer.

Methods: Cervical cancer screening included gynecological examination, vaginal secretion examination and HPV high-risk typing testing. Cervical cytology examination (ThinPrep cytology test) was performed for individuals who test positive for HPV types other than 16 and 18. Vaginal colposcopy examination was performed for HPV16 and 18 positive individuals, as well as for those who were positive for ThinPrep cytology test. If the results of vaginal colposcopy examination were abnormal, histopathological examination was performed. We conducted a cost-benefit analysis after 4 years.

Results: From 2019 to 2022, 523437 women aged 35-64 years in Changsha city were screened and 73313 were positive, with a 14% positive rate. The detection rate of precancerous lesions of cervical cancer was 0.6% and the detection rate of cervical cancer was 0.037%. Among 311212 patients who underwent two cancers examinations, the incidence rate was reduced by more than half in the second examination. The average screening cost per woman was 120 RMB. The average cost of detecting early cases was 10619 RMB, with an early detection cost coefficient of 0.083.

Conclusion: Our screening strategy was effective and cost-effective, making it valuable for early diagnosis and treatment of cervical cancer. It is worth promoting in economically limited areas.

Esophageal cancer (EC) is an aggressive malignancy with a poor prognosis, ranking seventh in incidence and sixth cancer-related deaths globally. EC is classified in two main types, the esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC), with ESCC being more common in Eastern Europe, South Asia, and Africa, while EAC is prevalent in Western Europe and North America. Molecular analysis identifies three subgroups of ESCC, each with distinct genetic mutations and treatment responses. Early-stage EC is often difficult to detect, leading to late-stage diagnoses that necessitate systemic drug therapies, including molecular-targeted therapies and immunotherapies. Immunotherapy, particularly immune checkpoint inhibitor, has shown promising results in improving survival rates for metastatic or persistent EC. It is particularly important to target to multidisciplinary combination therapies, integrating surgery, chemoradiotherapy, targeted therapy and immunotherapy. Additionally, radioimmunotherapy is being explored for its potential to enhance treatment efficacy, especially in advanced and metastatic tumors. However, the pathological complete response rate to neoadjuvant chemoradiotherapy remains suboptimal, highlighting the need for novel treatment strategies. Future research should focus on optimizing treatment combinations and identifying predictive biomarkers to improve clinical outcomes for EC patients.

Background: Intracranial epidermoid cyst (IEC) transformation to malignant squamous cell carcinoma (SCC) is extremely rare, and its etiology is yet unknown. Currently, SCC is treated by performing surgery, followed by a combination of radiotherapy and chemotherapy. It is crucial to identify efficient and trustworthy therapeutic targets for SCC to improve its diagnosis, prognosis, and treatment.

Case summary: In this study, we report the case of a 47-year-old female patient with SCC, which progressed from IEC in the left internal capsule region. The patient was sought treatment at our hospital for severe diplopic vision, accompanied with speech disorder and memory loss. Based on the clinical and postoperative pathology, this patient was finally diagnosed with SCC. To identify disease-causing variants, whole exome sequencing (WES) was performed on the proband. WES revealed two pathogenic missense mutations on Gap junction protein beta 2 (GJB2) (c.257C>T) and Toll-like receptor 2 (TLR2) (c.1039A>G), respectively.

Conclusion: This study provided the first clinical evidence for demonstrating the role of GJB2 and TLR2 in IEC development and treatment. We further confirmed WES as a robust and reliable technique for underlying rare and complex disease-related genetic factor identification.

Background: Colorectal cancer (CRC) causes many deaths worldwide. Synaptotagmin binding cytoplasmic RNA interacting protein (SYNCRIP) is an RNA-binding protein that plays an important role in multiple cancers by epigenetically targeting some genes. Our study will examine the expression, potential effect, biological function and clinical value of SYNCRIP in CRC.

Aim: To examine the expression, potential effect, biological function and clinical value of SYNCRIP in CRC.

Methods: The expression of SYNCRIP was examined by immunohistochemistry arrays and high-throughput data. The effect of SYNCRIP gene in CRC cell growth was evaluated by CRISPR-Cas9 technology. The target genes of SYNCRIP were calculated using various algorithms, and the molecular mechanism of SYNCRIP in CRC was explored by mutation analysis and pathway analysis. The clinical value of SYNCRIP in prognosis and radiotherapy was revealed via evidence-based medicine methods.

Results: The protein and mRNA levels of SYNCRIP were both highly expressed in CRC samples compared to nontumorous tissue based on 330 immunohistochemistry arrays and 3640 CRC samples. Cells grew more slowly in eleven CRC cell lines after knocking out the SYNCRIP gene. SYNCRIP could epigenetically target genes to promote the occurrence and development of CRC by boosting the cell cycle and affecting the tumor microenvironment. In addition, CRC patients with high SYNCRIP expression are more sensitive to radiotherapy.

Conclusion: SYNCRIP is upregulated in CRC, and highly expressed SYNCRIP can accelerate CRC cell division by exerting its epigenetic regulatory effects. In addition, SYNCRIP is expected to become a potential biomarker to predict the effect of radiotherapy.

This study aims to identify common contaminants in well water linked to an increase in colorectal cancer (CRC) incidence rates in North Dakota (ND) counties. County-specific incidence rates for CRC were obtained from the ND Statewide Cancer Registry. Corresponding demographic, agricultural, and geophysical data were obtained from population-based sources. Associations between well water contaminants and CRC incidence were examined for 16 counties in ND with complete well water profiles between 1997-2019. Data were analyzed by multiple linear regression. Iron in well water exhibited a significant positive association with CRC incidence (4.75, P = 0.001), and barium exhibited a small, but significant negative association (-0.06907, P = 0.01). Residents in counties in ND with prevalent well water usage contaminated with iron may be at higher risk for CRC.

In this editorial, I would like to comment on the article, recently published in the World Journal of Clinical Oncology. The article focuses on non-surgical treatments for locally recurrent rectal cancer, including the watch-and-wait (WW) strategy after total neoadjuvant therapy (TNT) and particle beam therapy. As treatment options for rectal cancer continue to evolve, the high complete response rate achieved with TNT has led to the development of a new non-surgical approach: WW. Chemoradiotherapy followed by consolidation chemotherapy, in particular, has a low rate of tumor growth and is a treatment aimed at achieving a cure without surgery. However, the risk of recurrence within two years is significant, necessitating careful follow-up. Establishing standardized follow-up methods that can be implemented by many physicians is essential. Carbon ion radiotherapy has demonstrated high local control with a low incidence of severe late toxicities, even after previous pelvic radiotherapy. While these new non-surgical curative treatments for rectal cancer require further investigation, future advancements in this field are anticipated.

Hepatocellular carcinoma (HCC) is the third leading cause of cancer death globally, with 15% of cases arising on a background of non-alcoholic fatty liver disease (NAFLD). NAFLD is a heterogenous condition ranging from fatty liver to cirrhosis and is itself a growing global problem, with estimated worldwide prevalence of 50% in 2040. Pathophysiology of NAFLD-HCC is not well understood, there are no dedicated screening programs, and there have been no clinical studies of anti-cancer treatments in this population specifically. However, the NAFLD-HCC population appears different than other aetiologies - patients tend to be older, diagnosed at more advanced stages, have more comorbidities, and overall worse prognosis. Understanding of best treatment options for this group of patients is an urgent unmet clinical need. This narrative review discusses NAFLD-HCC pathophysiology and systemic treatment, and offers suggestions for future directions in this therapy area.

Background: Renal angiomyolipoma and renal cell carcinoma are the most common benign and malignant tumors of the kidney respectively, and the preoperative differential diagnosis is crucial due to the wide difference in treatment methods. Fat-poor renal angiomyolipoma is a relatively rare type of in renal angiomyolipoma. Its fat imaging features are not obvious, and it is easily misdiagnosed as renal cell carcinoma.

Case summary: We report the case of a 41-year-old man who complained of osphyalgia. Subsequent abdominal computed tomography scans revealed that a heterogeneous mass was seen in the lower pole of the right kidney, with the size of about 53 mm × 47 mm. And showed two right renal arteries, with the mass supplied by an ectopic vessel from the abdominal aorta. Fluorescent laparoscopic blockade of the right renal heterotopic artery and partial nephrectomy was performed. Based on histological and immunohistochemical findings, the tumor was diagnosed as fat-poor renal angiomyolipoma.

Conclusion: The use of fluorescent laparoscopy can effectively help intraoperative management, and the fluorescence pattern provided by intravenous indocyanine green can help suggest the final diagnosis, effectively guide the surgical decision-making, and avoid preoperative imaging diagnosis leading to nephrectomy for benign renal tumors, through fluorescent navigation of tumor supply vessel precise block, minimize the loss of renal function.

Gastric cancer continues to be a significant issue for public health, marked by its widespread occurrence and high mortality rates, even as the incidence of the disease shows a declining trend. The liver is the primary site for metastatic spread, with the peritoneum, lungs, and bones also being common targets. With the advent of biologic treatments and the introduction of immunotherapy for patients with metastatic conditions, the options to treat metastatic gastric cancer have expanded. This diversified therapeutic approach is designed to enhance patient quality of life and prolong survival, showcasing the progress in treatment modalities for individuals with gastric cancer and liver metastases.