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Objective: There are no comprehensive studies on survival outcomes and optimal treatment protocols for cervical esophageal cancer (CEC), due to its rare clinical prevalence. Our objective was to determine the relationship between pathological characteristics, treatment protocols, and survival outcomes in Chinese CEC patients. Methods: A total of 500 Chinese CEC patients were selected from our 500,000 esophageal and gastric cardia carcinoma database (1973–2018). There were two main groups: patients treated with surgery, and patients receiving non-surgical treatments (radiotherapy, radiochemotherapy, and chemotherapy). The Chi-square test and Kaplan–Meier method were used to compare the continuous variables and survival. Results: Among the 500 CEC patients, 278 (55.6%) were male, and the median age was 60.9 ± 9.4 years. A total of 496 patients (99.2%) were diagnosed with squamous cell carcinoma. In 171 (34.2%) patients who received surgery, 22 (12.9%) had undergone laryngectomy. In 322 (64.4%) patients who received non-surgical treatments, 245 (76.1%) received radiotherapy. Stratified survival analysis showed that only T stage was related with survival outcomes for CEC patients in the surgical group, and the outcomes between laryngectomy and non-laryngectomy patients were similar. It was noteworthy that the 5-year survival rate was similar in CEC patients among the different groups treated with surgery, radiotherapy, chemotherapy, or radiochemotherapy (P = 0.244). Conclusions: The CEC patients had similar survival outcomes after curative esophagectomy and radiotherapy, including those with or without total laryngectomy. These findings suggest that radiotherapy could be the initial choice for treatment of Chinese CEC patients.

The aim of the present study was to determine the changes to the expression levels of fragile histidine triad (FHIT), breast cancer type 2 susceptibility protein (BRCA2), MutL homolog 1 (MLH1) and tumour protein 53 (p53) exhibited by families with a history of oesophageal cancer in a region that has a high incidence of oesophageal cancer, and to determine the association of these changes with the cancer history of the families. Immunohistochemistry was used to detect the protein expression of FHIT, p53, BRCA2, and MLH1 in the excised specimens of cancer tissues from 74 oesophageal cancer patients (positive family history of oesophageal cancer [OCFH +], n=33; negative family history of oesophageal cancer [OCFH −], n=41) from a region with a high incidence of oesophageal cancer. The positive expression rates of FHIT (61%; 45/74), BRCA2 (50%; 37/74) and MLH1 (27%; 9/33) in the oesophageal cancer tissues were significantly lower than those in the healthy tissues adjacent to the cancer (97% [29/30], 87% [26/30] and 73% [25/41], respectively). A significant difference was identified between the positive expression rates (P

Genome-wide association studies have identified susceptibility loci for esophageal squamous cell carcinoma (ESCC). We conducted a meta-analysis of all single-nucleotide polymorphisms (SNPs) that showed nominally significant P-values in two previously published genome-wide scans that included a total of 2961 ESCC cases and 3400 controls. The meta-analysis revealed five SNPs at 2q33 with P5 × 10(-8), and the strongest signal was rs13016963, with a combined odds ratio (95% confidence interval) of 1.29 (1.19-1.40) and P= 7.63 × 10(-10). An imputation analysis of 4304 SNPs at 2q33 suggested a single association signal, and the strongest imputed SNP associations were similar to those from the genotyped SNPs. We conducted an ancestral recombination graph analysis with 53 SNPs to identify one or more haplotypes that harbor the variants directly responsible for the detected association signal. This showed that the five SNPs exist in a single haplotype along with 45 imputed SNPs in strong linkage disequilibrium, and the strongest candidate was rs10201587, one of the genotyped SNPs. Our meta-analysis found genome-wide significant SNPs at 2q33 that map to the CASP8/ALS2CR12/TRAK2 gene region. Variants in CASP8 have been extensively studied across a spectrum of cancers with mixed results. The locus we identified appears to be distinct from the widely studied rs3834129 and rs1045485 SNPs in CASP8. Future studies of esophageal and other cancers should focus on comprehensive sequencing of this 2q33 locus and functional analysis of rs13016963 and rs10201587 and other strongly correlated variants.

Li Dong Wang and colleagues report a genome wide association study for esophageal squamous cell carcinoma in the Chinese population. They identify two risk loci at PLCE1 and C20orf54.

AIM: To investigate the relationship between human papillomavirus (HPV) infection and concurrent esophagus and gastric cardia cancer from the same patient (CC) and examine the significance of P16INK4A protein expression. METHODS: Polymerase chain reaction was used to detect the presence of HPV type16 (HPV16). The expression of P16INK4A protein was detected using immunohistochemistry. RESULTS: Among the CC specimens, HPV16-DNA was found in eight cases of esophageal squamous cell carcinoma (ESCC) and five cases of gastric cardia adenocarcinoma (GCA), respectively (47% vs 29%), and two of both ESCC and GCA. P16INK4A was highly expressed in both ESCC and GCA. In the HPV-associated positive CC, higher P16INK4A expression was observed in the GCA than in the ESCC (75% vs 25%, P < 0.05). CONCLUSION: HPV16 as a correlated risk factor may play an important role in the development of ESCC and GCA. P16INK4A may be a screening index in the HPV-associated carcinoma of gastric cardia.

We performed a genome-wide association study of esophageal squamous cell carcinoma (ESCC) by genotyping 1,077 individuals with ESCC and 1,733 control subjects of Chinese Han descent. We selected 18 promising SNPs for replication in an additional 7,673 cases of ESCC and 11,013 control subjects of Chinese Han descent and 303 cases of ESCC and 537 control subjects of Chinese Uygur-Kazakh descent. We identified two previously unknown susceptibility loci for ESCC: PLCE1 at 10q23 (P(Han combined for ESCC) = 7.46 x 10(-56), odds ratio (OR) = 1.43; P(Uygur-Kazakh for ESCC) = 5.70 x 10(-4), OR = 1.53) and C20orf54 at 20p13 (P(Han combined for ESCC) = 1.21 x 10(-11), OR = 0.86; P(Uygur-Kazakh for ESCC) = 7.88 x 10(-3), OR = 0.66). We also confirmed association in 2,766 cases of gastric cardia adenocarcinoma cases and the same 11,013 control subjects (PLCE1, P(Han for GCA) = 1.74 x 10(-39), OR = 1.55 and C20orf54, P(Han for GCA) = 3.02 x 10(-3), OR = 0.91). PLCE1 and C20orf54 have important biological implications for both ESCC and GCA. PLCE1 might regulate cell growth, differentiation, apoptosis and angiogenesis. C20orf54 is responsible for transporting riboflavin, and deficiency of riboflavin has been documented as a risk factor for ESCC and GCA.

Background Cancer of the esophagus is one of the most commonly seen malignancies in China. From 1959 to 1981, mass screening of esophageal cancer disclosed that the age-adjusted incidence in the 40- to 69-year-old population in Lin County, Henan Province, was 470/10 5 In its northern part, an even higher incidence of 760/10 5 was found. As they were discovered by mass screening, most of them were found to have early lesions. Surgical treatment was done in attempt to find out the feasibility of managing esophageal carcinoma by early diagnosis and early treatment. This paper is the result of the long-term follow-up. Methods Since 1972, a total of 17 extensive mass screening has been conducted among more than 160,000 participants in the rural areas in Henan, Hebei, and northern Jiangsu provinces, sorting out more than 30,000 high-risk individuals. Among these individuals, 24,600 were examined by endoscopy, discovering 2,094 patients with carcinomas in the esophagus or gastric cardia; 757 of these 2,094 patients were found to have superficial esophageal cancer; 420 patients accepted surgical treatment. Esophagectomy with gastric replacement was performed through left thoracotomy in all patients. Cervical anastomosis 94 (22.4%), intrathoracic supraaortic anastomosis 307 (73.1%), and infra-aortic anastomosis 19 (4.5%) were done. Double thoracoabdominal lymphatic dissection was performed. Results The resection rate was 100%. One-month operative mortality occurred in 5 (1.2%). Postoperative complications developed and were satisfactorily treated in 28 patients (6.7%). Pathology of the cancer specimens showed that there were carcinoma in situ in 76 (all without lymphatic metastasis), intramucosal (TI) carcinoma in 126 (2 [1.6%] with lymphatic metastasis), and submucous infiltrating (TI) cacinoma in 218 (34 [15.6%] with lymphatic metastasis). All these 420 patients have been followed up to 2001 with a follow-up rate of 94.1%. Those who were lost to follow-up were taken as censored cases. The survival rates were calculated by the life-table method. The 5-, 10-, 15-, 20-, and 25-year survival rates were 86.14%, 75.03%, 64.48%, 56.17%, and 49.93%, respectively. Conclusions Esophageal balloon cytology, endoscopy, mucosa 1.2% iodine stain, and multipoint biopsy may be the best approach for early diagnosis of esophageal carcinoma. Surgical resection of superficial esophageal cancer provides excellent long-term survival with acceptable quality of life. It was discovered that carcinoma in situ and intramucosal carcinoma gave far better results than the submucosal infiltrative carcinoma, as the latter tends to have a higher frequency of lymphatic metastasis.

Nat. Genet. 42, 759–763 (2010); published online 22 August 2010; corrected after print 27 August 2014 In contrast to the version of this article initially published, the authors now find no evidence to support association with esophageal squamous cell carcinoma susceptibility for rs13042395[T] at 20p13 in their original data, in two independent sets of cases and controls collected in other Chinese populations or in the joint analysis of these three studies.