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Case Reports in Oncology 2020Papillary cystadenocarcinoma is an uncommon disease with low-grade histological and clinical features. Although the tumor has the potential to produce regional lymph...
Papillary cystadenocarcinoma is an uncommon disease with low-grade histological and clinical features. Although the tumor has the potential to produce regional lymph node metastasis, there have been no reports of cases with distant metastasis. We describe a case of papillary cystadenocarcinoma arising from the maxilla that developed pulmonary metastasis 3 years after radical surgery of the primary tumor and regional lymph node. The histological findings were confirmed on resected specimens of the pulmonary nodule and a pathological diagnosis of a metastatic lesion derived from papillary cystadenocarcinoma was made. To our knowledge, this is the first report of the development of pulmonary metastasis in a patient with papillary cystadenocarcinoma. The present case suggests that papillary cystadenocarcinoma has the potential to produce lung metastasis in the clinical course. Based on our experience, we emphasize that long-term follow-up and/or careful examination are necessary in patients with cystadenocarcinoma, especially in patients with lymph node metastasis during the initial surgical therapy.
PubMed: 32774257
DOI: 10.1159/000507956 -
Journal of Cardiothoracic Surgery Jul 2020Due to its rarity, information on pulmonary metastasectomy for pulmonary metastasis from ovarian cancer is limited.
BACKGROUND
Due to its rarity, information on pulmonary metastasectomy for pulmonary metastasis from ovarian cancer is limited.
METHODS
Cases of pulmonary metastasectomy for ovarian cancer were collected in a multi-institutional setting and the outcomes were analyzed.
RESULTS
Among 1508 cases in which pulmonary resection was performed to treat pulmonary metastasis from tumors of various organs, 6 cases (0.4%) involved pulmonary metastasis from ovarian cancer. The mean age was 61 years (range, 39-75 years). The histological types were undifferentiated carcinoma in 2 patients, and clear cell adenocarcinoma, serous papillary cystadenocarcinoma, serous adenocarcinoma, and endometroid adenocarcinoma in 1 patient each. One patient (17%) had a history of liver metastasis at the time of pulmonary resection. The median disease-free interval was 22 months (range, 0 [synchronous]-188 months). The tumor was solitary in 5 patients (83%). The mean tumor size was 15 mm (range, 5-23 mm). All 6 patients underwent complete resection. The type of resection was wide wedge resection in 3 patients, segmentectomy in 2 patients, and lobectomy in 1 patient. Four patients (67%) received postoperative chemotherapy. Thus far, 4 patients (67%) have experienced recurrence after pulmonary resection. In terms of outcomes, 1 patient who had synchronous pulmonary metastasis with the primary tumor died in the early period after pulmonary resection, 1 patient is alive without recurrence after a short follow-up period (5 months), 3 patients have achieved mid- to long-term survival and are alive with disease (38-61 months), and 1 patient achieved long-term (61 months) disease-free survival.
CONCLUSIONS
Patients with pulmonary metastasis from ovarian cancer who fulfill the eligibility criteria for pulmonary metastasectomy are rare. Pulmonary metastasectomy for ovarian cancer can provide favorable outcomes in highly selected patients. Patients with synchronous pulmonary metastasis from ovarian cancer are not good candidates for pulmonary metastasectomy.
Topics: Adult; Aged; Carcinoma; Female; Follow-Up Studies; Humans; Lung Neoplasms; Middle Aged; Ovarian Neoplasms; Pneumonectomy; Retrospective Studies; Survival Analysis; Treatment Outcome
PubMed: 32703262
DOI: 10.1186/s13019-020-01231-x -
Acta Oncologica (Stockholm, Sweden) Sep 2020
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Cystadenocarcinoma, Papillary; Female; Genes, p16; Humans; Male; Middle Aged; Pancreatic Neoplasms; Point Mutation; Young Adult; beta Catenin
PubMed: 32672484
DOI: 10.1080/0284186X.2020.1792549 -
Computational and Structural... 2020Classical microRNA (miRNA) has been so far believed as a single sequence, but it indeed contains multiple miRNA isoforms (isomiR) with various sequences and expression...
Classical microRNA (miRNA) has been so far believed as a single sequence, but it indeed contains multiple miRNA isoforms (isomiR) with various sequences and expression patterns. It is not clear whether these diverse isomiRs have potential relationships and whether they contribute to miRNA:mRNA interactions. Here, we aimed to reveal the potential evolutionary and functional relationships of multiple isomiRs based on let-7 and miR-10 gene families that are prone to clustering together on chromosomes. Multiple isomiRs within gene families showed similar functions to their canonical miRNAs, indicating selection of the predominant sequence. IsomiRs containing novel seed regions showed increased/decreased biological function depending on whether they had more/less specific target mRNAs than their annotated seed. Few gene ontology(GO) terms and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways were shared among the target genes of the annotated seeds and the novel seeds. Various let-7 isomiRs with novel seed regions may cause opposing drug responses despite the fact that they are generated from the same miRNA locus and have highly similar sequences. IsomiRs, especially the dominant isomiRs with shifted seeds, may disturb the coding-non-coding RNA regulatory network. These findings provide insight into the multiple isomiRs and isomiR-mediated control of gene expression in the pathogenesis of cancer.
PubMed: 32542110
DOI: 10.1016/j.csbj.2020.05.001 -
Journal of Clinical Imaging Science 2020The aim of the study was to evaluate the accuracy of computed tomography/magnetic resonance imaging (CT/MRI) in characterizing cystic lesions of the pancreas and in...
OBJECTIVES
The aim of the study was to evaluate the accuracy of computed tomography/magnetic resonance imaging (CT/MRI) in characterizing cystic lesions of the pancreas and in differentiating between benign and malignant/potentially malignant lesions.
MATERIAL AND METHODS
A retrospective study was performed on patients with pancreatic cystic lesions who underwent pre-operative imaging and surgery between October 2004 and April 2017 at a tertiary care teaching hospital. The images were reviewed for specific characteristics and diagnoses recorded independently by two radiologists who were blinded to the histopathological examination (HPE) report. Radiological diagnostic accuracy was assessed with HPE as reference standard.
RESULTS
A total of 80 patients fulfilled the inclusion criteria (M: F = 27:53). The final HPE diagnoses were solid pseudopapillary neoplasm (32.5%), walled off necrosis/pseudocyst (27.5%), mucinous cystadenoma (15%), serous cystadenoma (11.25%), intraductal papillary mucinous neoplasm (8.75%), mucinous cystadenocarcinoma (2.5%), simple epithelial cyst (1.25%), and unspecified benign cystic lesion (1.25%). Observer1 correctly identified the diagnosis in 73.75% of cases while observer 2 did so in 72.5%. Sensitivity for distinguishing benign versus malignant/potentially malignant lesions was 85.1% for observer 1 and 80.9% for observer 2. On multivariate logistic regression analysis: Solid cystic morphology, presence of mural nodule, and female gender were associated with premalignant/malignant lesions.
CONCLUSION
Cross-sectional imaging is a valuable tool for characterization of pancreatic cystic lesions within its limitations.
PubMed: 32494507
DOI: 10.25259/JCIS_15_2020 -
Genome Medicine May 2020Distinct prevalence of inherited genetic predisposition may partially explain the difference of cancer risks across ancestries. Ancestry-specific analyses of germline...
BACKGROUND
Distinct prevalence of inherited genetic predisposition may partially explain the difference of cancer risks across ancestries. Ancestry-specific analyses of germline genomes are required to inform cancer genetic risk and prognosis of diverse populations.
METHODS
We conducted analyses using germline and somatic sequencing data generated by The Cancer Genome Atlas. Collapsing pathogenic and likely pathogenic variants to cancer predisposition genes (CPG), we analyzed the association between CPGs and cancer types within ancestral groups. We also identified the predisposition-associated two-hit events and gene expression effects in tumors.
RESULTS
Genetic ancestry analysis classified the cohort of 9899 cancer cases into individuals of primarily European (N = 8184, 82.7%), African (N = 966, 9.8%), East Asian (N = 649, 6.6%), South Asian (N = 48, 0.5%), Native/Latin American (N = 41, 0.4%), and admixed (N = 11, 0.1%) ancestries. In the African ancestry, we discovered a potentially novel association of BRCA2 in lung squamous cell carcinoma (OR = 41.4 [95% CI, 6.1-275.6]; FDR = 0.002) previously identified in Europeans, along with a known association of BRCA2 in ovarian serous cystadenocarcinoma (OR = 8.5 [95% CI, 1.5-47.4]; FDR = 0.045). In the East Asian ancestry, we discovered one previously known association of BRIP1 in stomach adenocarcinoma (OR = 12.8 [95% CI, 1.8-90.8]; FDR = 0.038). Rare variant burden analysis further identified 7 suggestive associations in African ancestry individuals previously described in European ancestry, including SDHB in pheochromocytoma and paraganglioma, ATM in prostate adenocarcinoma, VHL in kidney renal clear cell carcinoma, FH in kidney renal papillary cell carcinoma, and PTEN in uterine corpus endometrial carcinoma. Most predisposing variants were found exclusively in one ancestry in the TCGA and gnomAD datasets. Loss of heterozygosity was identified for 7 out of the 15 African ancestry carriers of predisposing variants. Further, tumors from the SDHB or BRCA2 carriers showed simultaneous allelic-specific expression and low gene expression of their respective affected genes, and FH splice-site variant carriers showed mis-splicing of FH.
CONCLUSIONS
While several CPGs are shared across patients, many pathogenic variants are found to be ancestry-specific and trigger somatic effects. Studies using larger cohorts of diverse ancestries are required to pinpoint ancestry-specific genetic predisposition and inform genetic screening strategies.
Topics: Ataxia Telangiectasia Mutated Proteins; BRCA2 Protein; Fanconi Anemia Complementation Group Proteins; Female; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Male; Neoplasms; RNA Helicases; Risk Factors; Succinate Dehydrogenase; Von Hippel-Lindau Tumor Suppressor Protein
PubMed: 32471518
DOI: 10.1186/s13073-020-00744-3 -
Computational and Structural... 2020Microsatellite instability (MSI) is a genomic property of the cancers with defective DNA mismatch repair and is a useful marker for cancer diagnosis and treatment in...
Microsatellite instability (MSI) is a genomic property of the cancers with defective DNA mismatch repair and is a useful marker for cancer diagnosis and treatment in diverse cancer types. In particular, MSI has been associated with the active immune checkpoint blockade therapy response in cancer. Most of computational methods for predicting MSI are based on DNA sequencing data and a few are based on mRNA expression data. Using the RNA-Seq pan-cancer datasets for three cancer cohorts (colon, gastric, and endometrial cancers) from The Cancer Genome Atlas (TCGA) program, we developed an algorithm (PreMSIm) for predicting MSI from the expression profiling of a 15-gene panel in cancer. We demonstrated that PreMSIm had high prediction performance in predicting MSI in most cases using both RNA-Seq and microarray gene expression datasets. Moreover, PreMSIm displayed superior or comparable performance versus other DNA or mRNA-based methods. We conclude that PreMSIm has the potential to provide an alternative approach for identifying MSI in cancer.
PubMed: 32257050
DOI: 10.1016/j.csbj.2020.03.007 -
Annals of Translational Medicine Dec 2019Serous cystic neoplasms (SCN) rarely have malignant potential, so accurate diagnosis of SCN is crucial for proper clinical management, especially to avoid unnecessary...
BACKGROUND
Serous cystic neoplasms (SCN) rarely have malignant potential, so accurate diagnosis of SCN is crucial for proper clinical management, especially to avoid unnecessary surgeries. However, the misdiagnosis of other pancreatic cystic neoplasm instead of SCN may highly increase the risk of malignancy in patients who receive no surgery.
METHODS
Data from a total of 678 patients with pathologically confirmed to have SCN at sixteen institutions in China from January 1, 2006 to December 31, 2016 were retrieved to evaluate the malignancy risk of SCN.
RESULTS
Among the 678 patients confirmed to have SCN with postoperative pathologic analysis, 649 patients (95.7%) had only one lesion and the average maximum diameter was 3.8±2.47 cm. Four patients were pathologically verified as having serous cystadenocarcinoma, so the SCN actual malignancy rate was 0.6%, while the mortality due to pancreatic surgery in these high-volume centers was nearly 0.2-2%. However, among the 99 SCN patients based on preoperative radiology, three were confirmed to have intraductal papillary mucinous neoplasms (IPMN), nine as mucinous cystic neoplasms (MCN), and four as solid pseudopapillary tumors (SPT) after postoperative pathological analysis. Thus, the total theoretical malignancy rate resulting from preoperative misdiagnosis was elevated to approximately 2.9%, higher than the risk of perioperative mortality.
CONCLUSIONS
When SCN can't be accurately distinguished from cystic tumors of pancreas, the malignant risk of cystic tumors may be higher than perioperative risk. However, if it can be diagnosed as SCN accurately, surgery can be avoided as well.
PubMed: 32042823
DOI: 10.21037/atm.2019.12.70 -
International Journal of Clinical and... 2019Ovarian carcinoma is the most deadly gynaecological disease, with poor prognosis and limited predictive biomarkers. Recent evidence has indicated controversial roles of...
Ovarian carcinoma is the most deadly gynaecological disease, with poor prognosis and limited predictive biomarkers. Recent evidence has indicated controversial roles of OGN in human malignancies, but the pathologic significance of OGN in ovarian carcinoma has not yet been determined. Here, we investigated the expression of OGN in ovarian carcinoma and determined its association with patient prognosis. We found that OGN expression was up-regulated in serous papillary cystadenocarcinoma and endometrioid adenocarcinoma compared to non-tumor tissues, but not in clear-cell ovarian carcinoma. Kaplan-Meier analysis showed that OGN expression was an adverse prognostic factor for both the overall survival and the progression-free survival of ovarian carcinoma patients. Higher OGN levels were positively associated with the activation of EMT-related gene signatures. Histological analysis further confirmed that OGN positive ovarian carcinoma cells expressed vimentin and displayed morphology of mesenchymal identity. Collectively, our preliminary results indicate that elevated expression of OGN is associated with the EMT process and may serve as a potential biomarker for prognosis in ovarian carcinoma.
PubMed: 31933863
DOI: No ID Found -
The American Journal of Case Reports Jan 2020BACKGROUND Omental calcifications of the peritoneum are typically small and asymptomatic. However, larger psammomatous bodies that cause symptoms such as abdominal pain...
BACKGROUND Omental calcifications of the peritoneum are typically small and asymptomatic. However, larger psammomatous bodies that cause symptoms such as abdominal pain and bloating are often associated with tumors such as primary serous papillary carcinoma, mesothelioma, or metastatic ovarian cancer. CASE REPORT We describe omental calcifications in a 68-year-old woman who had been asymptomatic for the last 10 years. The case details the histomorphologic features and immunohistochemical signature of a 4.0×3.5×1.0 cm mass consisting of mature adipose tissue that was surgically removed together with an 8.5×6.5×1.8 cm irregular intra-abdominal/mesenteric mass composed of yellow-red fatty tissue. Microscopic sections contained fat with variable clustered classic/psammomatous calcifications, some with a thin epithelioid periphery, in association with a very focal and subtle papillary surface epithelial/mesothelial proliferation. Tumor cell invasion was not observed during examination. Immunohistochemical staining showed that mesothelial cells in the mass were strongly positive for calretinin and focally positive for EMA, CK903, and vimentin. Strong nuclear positivity for PAX8 was also reported. Additional stains were added in response to this pattern, showing strong positivity for CK8, moderate positivity for BAP1, focal positivity for ER, minimal positivity for CD56, and negativity for CK5/6 and D2-40. Three possible explanations are suggested for the phenomenon observed in the pathology slides: reactive mesothelial hyperplasia, well-differentiated papillary mesothelioma, or serous papillary carcinoma of the peritoneum. CONCLUSIONS Findings suggest that these calcifications are a benign, reactive phenomenon, and that the abundance of psammoma bodies may be related to ongoing crops of papillary mesothelial hyperplasia or benign well-differentiated papillary mesothelioma.
Topics: Aged; Biomarkers, Tumor; Calcinosis; Cystadenocarcinoma, Papillary; Cystadenocarcinoma, Serous; Diagnosis, Differential; Female; Humans; Hyperplasia; Immunohistochemistry; Mesothelioma; Omentum; Peritoneal Neoplasms
PubMed: 31929500
DOI: 10.12659/AJCR.920487