A case of difficult-to-diagnose non-invasive papillary squamous cell carcinoma of the uterine cervix infected with human papilloma virus 6: A diagnostic pitfall.
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ABSTRACT:
SUBMITTER: Sone K
PROVIDER: S-EPMC8489388 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundPapillary squamous cell carcinoma (PSCC) of the uterine cervix is difficult to diagnose due to its rarity and limited data regarding its clinical behavior. We attempted to assess the degree of stromal invasion using magnetic resonance imaging (MRI) and evaluate possible treatments for this lesion in view of its clinical behavior.MethodsWe analyzed 28 cases of PSCC diagnosed on the colposcopic selective biopsies. We studied the rate of accuracy of diagnoses of the colposcopic selective biopsies compared with the final diagnoses, and compared the rate of stromal invasion between the MRI and pathological findings while focusing on surgical methods and the clinical prognosis.ResultsOf the 28 patients, only 12 exhibited true PSCC. The other 16 patients were ultimately diagnosed with SCC or adenosquamous carcinoma based on the finding of the surgical specimens and exhibited relatively poor prognoses. Among the 12 true PSCC cases, the rate of diagnostic accuracy of stromal invasion (with or without) was only 58% (7/12) on the colposcopic selective biopsies. However, we were able to predict the presence of stromal invasion (microscopic borderline: approximately 3 mm) before surgery using MRI. None of the 10 patients treated with radical surgery displayed lymph node metastases. In addition, all 12 study patients exhibited no recurrence (mean: 49 months) and survived.ConclusionsMRI can be used to detect preinvasive and microinvasive disease before surgery. It is possible to select a less invasive surgical method than radical surgery in cases of preinvasive and microinvasive PSCC in view of the indolent clinical behavior of this disease.
| S-EPMC4232646 | biostudies-literature
Project description:60 year old woman with a history of laryngeal carcinoma-HPV 16 positive, presents seven years later with an abnormal Pap smear. Cervical biopsy showed squamous cell carcinoma. Clinical stage was IB1. Patient underwent open radical hysterectomy and lymphadenectomy. Based on pathologic findings no adjuvant therapy was recommended. Uterine cervix carcinoma was also positive for HPV-16. There are no guidelines for cervical cancer screening in patients with laryngeal cancer and vice versa. Our recommendation is that patient with HPV-positive laryngeal cancer should be encouraged HPV vaccine as current guidelines, but more frequent screening, as recommended for women with specific co-morbid conditions, needs to be investigated. Research is needed to assess the role of screening for laryngeal cancer in women with cervical cancer and the effect of HPV vaccine on laryngeal cancer prevention.
| S-EPMC7152660 | biostudies-literature
Project description:This study aimed to explore the involvement of carbonic anhydrase 9 (CA9) single nucleotide polymorphisms (SNPs) in the development of invasive cancer of uterine cervix for Taiwanese women. Ninety-seven patients with cervical invasive squamous cell carcinoma and 88 with preinvasive squamous cell lesions as well as 324 control women were recruited. Two CA9 SNPs in exons, including rs2071676 (+201, G/A) in exon 1 and rs3829078 (+1081, A/G) in exon 7, rs1048638 (+1584, C/A) in 3'-untranslated region of exon 11, as well as an 18-base pair deletion/insertion (376deltion393) in exon 1 were selected and their genotypic distributions were determined by real-time polymerase chain reaction. Haplotype was then constructed with rs2071676, 376del393, rs3829078 and rs1048638 in order. The results revealed that Taiwanese women with genotypes CA or CA/AA in CA9 SNP rs1048638 displayed a more risk in developing cervical invasive cancer, assigning wild genotype CC as a reference. AA in SNP rs2071676 tended to increase the risk of developing cervical invasive cancer, using GG/GA as a reference. When women had the diplotypes, carrying at least one haplotype A1AA (one mutant allele A in rs2071676, no deletion in 376del393, no mutant allele A in rs3829078 and one mutant allele A in rs1048638), they were significantly susceptible to cervical invasive cancer. In conclusion, CA9 SNP rs1048638 and haplotype A1AA are associated with the susceptibility of cervical invasive squamous cell carcinoma for Taiwanese women.
| S-EPMC5930460 | biostudies-literature
Project description:The majority of cervical cancer (CC) cases are attributable to HPV infection. Altered Notch pathway signals and HPV are believed to modify clinicopathogenesis of CC, however, the involvement of each molecular player and its mechanism is still not known. Jagged-1 (JAG1) is one of the ligands that induce Notch pathway. The involvement of JAG1 in the modulation of a disease condition is not very clear. Hence, this study aims to study the role of JAG1 in HPV-16/18 associated different histological sub-types of CC, especially ADC. 40 non-neoplastic cervical tissues, 30 precancer and 118 tumor specimens (total 188 tissue biopsies) were studied for the expression of the JAG1 protein through immunohistochemistry, immunoblotting and for HPV infection. Two folds increase of cytoplasmic (Mean?±?S.E, 3.67?±?0.33; p?=?0.0001) and nuclear (3.70?±?0.38, p?=?0.0001) JAG1 expression was identified in normal (N) vs precancer and three folds cytoplasmic (4.44?±?0.17, p?=?0.0001) and nuclear (4.64?±?0.17; p?=?0.0001) in N vs. ISCC. Total 85% of ADC patients were found to be infected with HPV, which were 100% infected with HPV-16. These findings suggest the complex synergistic interplay between JAG1 and HPV in regulating clinicopathological progression of CC through its deregulation.
| S-EPMC6008329 | biostudies-literature
Project description:Although cervical intraepithelial neoplasia (CIN) is considered a neoplasia, its genomic alterations remain unknown. For this, we performed whole-exome sequencing and copy number profiling of three CINs, a microinvasive carcinoma (MIC) and four cervical squamous cell carcinomas (CSCC). Both total mutation and driver mutation numbers of the CINs were significantly fewer than those of the MIC/CSCCs (P = 0.036 and P = 0.018, respectively). Importantly, PIK3CA was altered in all MIC/CSCCs by either mutation or amplification, but not in CINs. The CINs harbored significantly lower numbers of copy number alterations (CNAs) than the MIC/CSCCs as well (P = 0.036). Pathway analysis predicted that the MIC/CSCCs were enriched with cancer-related signalings such as cell adhesion, mTOR signaling pathway and cell migration that were depleted in the CINs. The mutation-based estimation of evolutionary ages identified that CIN genomes were younger than MIC/CSCC genomes. The data indicate that CIN genomes harbor unfixed mutations in addition to human papilloma virus infection but require additional driver hits such as PIK3CA, TP53, STK11 and MAPK1 mutations for CSCC progression. Taken together, our data may explain the long latency from CIN to CSCC progression and provide useful information for molecular diagnosis of CIN and CSCC.
| S-EPMC4414197 | biostudies-literature
Project description:BackgroundNQO1 (NAD(P)H: quinone oxidoreductase-1), located on chromosome 16q22, functions primarily to protect normal cells from oxidant stress and electrophilic attack. Recent studies have revealed that NQO1 is expressed at a high level in most human solid tumors including those of the colon, breast, pancreas, ovaries and thyroid, and it has also been detected following the induction of cell cycle progression and proliferation of melanoma cells. In this study, we aimed to investigate the clinicopathological significance of upregulated NQO1 protein expression in squamous cell carcinomas (SCCs) of the uterine cervix.MethodsThe localization of the NQO1 protein was determined in the SiHa cervical squamous cancer cell line using immunofluorescence (IF) staining, and immunohistochemical (IHC) staining performed on paraffin-embedded cervical SCC specimens from 177 patients. For comparison, 94 cervical intraepithelial neoplasia (CIN) and 25 normal cervical epithelia samples were also included. QRT-PCR was performed on RNA from fresh tissues to detect NQO1 mRNA expression levels, and HPV infection status was genotyped using oligonucleotide microarray. Disease-free survival (DFS) and 5-year overall survival (OS) rates for all cervical SCC patients were calculated using the Kaplan-Meier method, and univariate and multivariate analysis was performed using the Cox proportional hazards regression model.ResultsThe NQO1 protein showed a mainly cytoplasmic staining pattern in cervical cancer cells, and only three cases of cervical SCC showed a nuclear staining pattern. The strongly positive rate of NQO1 protein expression was significantly higher in cervical SCCs and CINs than in normal cervical epithelia. High-level NQO1 expression was closely associated with poor differentiation, late-stage, lymph node metastasis and high-risk for HPV infection. Additionally, high-level NQO1 expression was associated with lower DFS and 5-year OS rates, particularly for patients with early-stage cervical SCCs. Furthermore, Cox analysis revealed that NQO1 expression emerged as a significant independent hazard factor for DFS rate in patients with cervical SCC.ConclusionsNQO1 overexpression might be an independent biomarker for prognostic evaluation of cervical SCCs.
| S-EPMC4058702 | biostudies-literature
Project description:AimsThe dynamics and topographical distribution of SOX17 and SOX2 expression was studied in the transformation zone (TZ) of the uterine cervix. This TZ is a dynamic area where switches from glandular into squamous epithelium can be recognized, new squamocolumnar junctions are formed, and premalignant lesions originate. SOX17 and SOX2 show mutually exclusive expression patterns in the normal uterine cervix, with SOX2 being exclusively found in squamous epithelium, while SOX17 is detected in endocervical columnar cells and reserve cells.Methods and resultsNormal cervices and squamous intraepithelial lesions (SIL) were studied with immunohistochemistry, methylation of SOX17, human papilloma virus (HPV) genotyping, and in situ hybridization. In the TZ squamous metaplasia originating from these reserve cells can still show SOX17 expression, while also remnants of SOX17-positive immature metaplasia can be recognized in the normal squamous epithelium. SOX17 expression is gradually lost during maturation, resulting in the exclusive expression of SOX2 in the majority of (SIL). This loss of SOX17 expression is independent of methylation of the CpG island in its promotor region. HPV can be detected in SOX17-positive immature metaplastic regions in the immediate vicinity of SOX2-positive SIL, suggesting that switches in SOX17 and 2 expression can occur upon HPV infection.ConclusionsThis switch in expression, and the strong association between the distribution of reserve cells and squamous areas within the columnar epithelium in the TZ, suggests that reserve cell proliferations, next to basal cells in the squamous epithelium, are potential targets for the formation of squamous lesions upon viral infection.
| S-EPMC7476841 | biostudies-literature
Project description:ObjectiveTo examine the association between tumor grade and survival for women with squamous cervical cancer.MethodsThis retrospective observational study utilized the Surveillance, Epidemiology, and End Result program data between 1983 and 2013 to examine women with squamous cervical cancer with known tumor differentiation grade. Multivariable analyses were performed to assess independent associations between tumor differentiation grade and survival.ResultsA total of 31,536 women were identified including 15,175 (48.1%) with grade 3 tumors, 14,084 (44.7%) with grade 2 neoplasms and 2,277 (7.2%) with grade 1 tumors. Higher tumor grade was significantly associated with older age, higher stage disease, larger tumor size, and lymph node metastasis (all, p<0.001). In a multivariable analysis, grade 2 tumors (adjusted-hazard ratio [HR]=1.21; p<0.001) and grade 3 tumors (adjusted-HR=1.45; p<0.001) were independently associated with decreased cause-specific survival (CSS) compared to grade 1 tumors. Among the 7,429 women with stage II-III disease who received radiotherapy without surgical treatment, grade 3 tumors were independently associated with decreased CSS compared to grade 2 tumors (adjusted-HR=1.16; p<0.001). Among 4,045 women with node-negative stage I disease and tumor size ?4 cm who underwent surgical treatment without radiotherapy, grade 2 tumors (adjusted-HR=2.54; p=0.028) and grade 3 tumors (adjusted-HR=4.48; p<0.001) were independently associated with decreased CSS compared to grade 1 tumors.ConclusionOur study suggests that tumor differentiation grade may be a prognostic factor in women with squamous cervical cancer, particularly in early-stage disease. Higher tumor grade was associated with poorer survival.
| S-EPMC6189431 | biostudies-literature
Project description:Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation. Three forms of cystinosis are distinguished: infantile and juvenile nephropathic cystinosis affecting kidneys and other organs such as the eyes, endocrine system, muscles, and brain, and adult ocular cystinosis affecting only the eyes. Currently, elevated white blood cell (WBC) cystine content is the gold standard for the diagnosis of cystinosis. We present a patient with proteinuria at adolescent age and corneal cystine crystals, but only slightly elevated WBC cystine levels (1.31 ½ cystine/mg protein), precluding the diagnosis of nephropathic cystinosis. We demonstrate increased levels of cystine in skin fibroblasts and urine-derived kidney cells (proximal tubular epithelial cells and podocytes), that were higher than the values observed in the WBC and healthy control. CTNS gene analysis shows the presence of a homozygous missense mutation (c.590 A > G; p.Asn177Ser), previously described in the Arab population. Our observation underlines that low WBC cystine levels can be observed in patients with juvenile cystinosis, which may delay the diagnosis and timely administration of cysteamine. In such patients, the diagnosis can be confirmed by cystine measurement in slow-dividing cells and by molecular analysis of the CTNS gene.
| S-EPMC9864853 | biostudies-literature
Project description:Multiple primary malignant neoplasms are a rare gynecologic malignancy; particularly, cases originating from the heterologous organs, such as the ovary and cervix. Here, we report a case of two primary malignant neoplasms in a patient who had undergone laparoscopic radical hysterectomy + bilateral salpingo-oophorectomy + pelvic lymph node dissection + para-aortic lymphadenectomy + appendectomy + omentectomy + metastasectomy under general anesthesia. The patient experienced complete remission after six courses of postoperative chemotherapy with a standard Taxol and Carboplatin regimen. Genetic testing was performed to detect BRCA2 mutations, and poly (ADP-ribose) polymerase (PARP) inhibitors were used for maintenance therapy.
| S-EPMC10956574 | biostudies-literature