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Journal of Medical Case Reports Feb 2021Accurate diagnosis of metastatic tumors in the breast is crucial because the therapeutic approach is essentially different from primary tumors. A key morphological...
BACKGROUND
Accurate diagnosis of metastatic tumors in the breast is crucial because the therapeutic approach is essentially different from primary tumors. A key morphological feature of metastatic tumors is their lack of an in situ carcinoma component. Here, we present a unique case of metastatic ovarian carcinoma spreading into mammary ducts and mimicked an in situ component of primary carcinoma. To our knowledge, this is the second case (and the first adult case) confirming the in situ-mimicking growth pattern of a metastatic tumor using immunohistochemistry.
CASE PRESENTATION
A 69-year-old Japanese woman was found to have a breast mass with microcalcifications. She had a known history of ovarian mixed serous and endocervical-type mucinous (seromucinous) carcinoma. Needle biopsy specimen of the breast tumor revealed adenocarcinoma displaying an in situ-looking tubular architecture in addition to invasive micropapillary and papillary architectures with psammoma bodies. From these morphological features, metastatic serous carcinoma and invasive micropapillary carcinoma of breast origin were both suspected. In immunohistochemistry, the cancer cells were immunoreactive for WT1, PAX8, and CA125, and negative for GATA3, mammaglobin, and gross cystic disease fluid protein-15. Therefore, the breast tumor was diagnosed to be metastatic ovarian serous carcinoma. The in situ-looking architecture showed the same immunophenotype, but was surrounded by myoepithelium confirmed by immunohistochemistry (e.g. p63, cytokeratin 14, CD10). Thus, the histogenesis of the in situ-like tubular foci was could be explained by the spread of metastatic ovarian cancer cells into existing mammary ducts.
CONCLUSION
Metastatic tumors may spread into mammary duct units and mimic an in situ carcinoma component of primary breast cancer. This in situ-mimicking growth pattern can be a potential pitfall in establishing a correct diagnosis of metastasis to the breast. A panel of breast-related and extramammary organ/tumor-specific immunohistochemical markers may be helpful in distinguishing metastatic tumors from primary tumors.
Topics: Aged; Breast Neoplasms; Cystadenocarcinoma, Mucinous; Cystadenocarcinoma, Serous; Diagnosis, Differential; Female; Humans; Immunohistochemistry; Mammary Glands, Human; Neoplasms, Complex and Mixed; Ovarian Neoplasms
PubMed: 33593410
DOI: 10.1186/s13256-020-02653-w -
Head and Neck Pathology Dec 2021Low-grade intraductal carcinoma is a rare neoplasia with an excellent prognosis, previously classified as low-grade cribriform cystadenocarcinoma and low-grade salivary... (Review)
Review
Low-grade intraductal carcinoma is a rare neoplasia with an excellent prognosis, previously classified as low-grade cribriform cystadenocarcinoma and low-grade salivary duct carcinoma. The tumor mainly occurs in the parotid gland and presents a ductal phenotype and an intraductal/intracystic growth pattern. It resembles intraductal breast lesions such as atypical ductal hyperplasia, papillary and cribriform ductal carcinoma in situ. Despite its infrequency, discriminating low-grade intraductal carcinoma from other salivary gland tumors is crucial, especially because of its favorable prognosis. A 74-year-old woman with a history of neurofibromatosis underwent a superficial parotidectomy to remove a sharply demarcated multi-cystic mass, diagnosed as category 4 at FNAC. The histological examination revealed a demarcated but unencapsulated lesion composed of a bigger cyst surrounded by several smaller cysts, lined by a monolayer or bilayer epithelium alternated with a cribriform proliferation, characterized by "Roman-bridges", with occasional micro-papillae. A myoepithelial component, with a basal disposition, was present, confirmed by intense staining for protein p63 and SMA. Immunohistochemical stains showed intense, strong uniform positivity for pan-cytokeratin, protein S100, and SOX10. The Ki67 proliferation index was low (< 10%). A diagnosis of Low-grade Intraductal Carcinoma (LGIC) of the parotid was made. We performed a literature search in PUBMED for "Intraductal carcinoma", "Low-grade Intraductal Carcinoma", "Cribriform Cystadenocarcinoma", "Salivary Duct Carcinoma", and "Low-Grade Salivary Duct Carcinoma". We selected 17 papers published between 1983 and 2020; the most affected anatomical site was the parotid gland (77/90), followed by minor salivary glands (6/90), the intraparotid lymph nodes (3/90) and the submandibular gland (4/90). Their main histopathological features are reported in the paper. Here we present a case report and a review of scientific literature on this topic to provide some essential diagnostic tools to discriminate this rare entity.
Topics: Aged; Biomarkers, Tumor; Biopsy, Fine-Needle; Carcinoma, Ductal; Diagnosis, Differential; Female; Humans; Neoplasm Grading; Parotid Neoplasms; Tomography, X-Ray Computed
PubMed: 33501556
DOI: 10.1007/s12105-021-01290-z -
Indian Journal of Cancer 2021The primary retroperitoneal serous adenocarcinoma (PRSAC) is a rare malignant tumor of the retroperitoneum. It shares the same pathological and biological behavior with... (Review)
Review
The primary retroperitoneal serous adenocarcinoma (PRSAC) is a rare malignant tumor of the retroperitoneum. It shares the same pathological and biological behavior with ovarian serous carcinoma. Most of the cases develop as peritoneal adenocarcinoma and rarely occur in the retroperitoneum. It is reported as serous surface papillary carcinoma of the peritoneum and extraovarian peritoneal serous papillary carcinoma. We present a case of PRSAC in a 60-year-old woman. Only 11 cases of PRSAC have been reported from 1983 to 2019. Histopathological features with immunohistochemical expressions are important to diagnose PRSAC. The outcome and survival mainly depend on the possibility of surgical resection. Molecular genetics of PRSAC should also be studied in relation with its ovarian counterpart.
Topics: Cystadenocarcinoma, Serous; Female; Humans; Middle Aged; Ovarian Neoplasms; Prognosis; Retroperitoneal Neoplasms
PubMed: 33402586
DOI: 10.4103/ijc.IJC_528_19 -
Human Pathology Jun 2021With major advancements and frequent use of abdominal imaging techniques, hepatic cysts are increasingly encountered in clinical practice. Although the majority of cysts... (Review)
Review
With major advancements and frequent use of abdominal imaging techniques, hepatic cysts are increasingly encountered in clinical practice. Although the majority of cysts are benign, a small subset represents neoplastic precursors to cholangiocarcinoma. These cystic precursors include intraductal papillary neoplasms of the bile duct (IPNB) and mucinous cystic neoplasms of the liver (MCN-L), and bear striking pathologic resemblance to corresponding cystic neoplastic precursors within the pancreas. This review examines the salient clinical, gross, microscopic and molecular features of IPNBs and MCN-Ls, and, in particular, provides histopathologic comparison to their pancreatic counterparts. Considering these neoplasms may be diagnostically challenging, we also discuss other hepatic lesions within the differential diagnosis, and the potential for molecular methods to improve their preoperative evaluation and the early detection of cholangiocarcinoma.
Topics: Bile Duct Neoplasms; Bile Ducts, Intrahepatic; Cholangiocarcinoma; Cystadenocarcinoma, Mucinous; Diagnosis, Differential; Humans; Liver Neoplasms
PubMed: 33383041
DOI: 10.1016/j.humpath.2020.12.010 -
Computational and Structural... 2020Synthetic lethality is thought to play an important role in anticancer therapies. Herein, to understand the potential distributions and relationships between synthetic...
Synthetic lethality is thought to play an important role in anticancer therapies. Herein, to understand the potential distributions and relationships between synthetic lethal interactions between genes, especially for pairs deriving from different sources, we performed an integrative analysis of genes at multiple molecular levels. Based on inter-species phylogenetic conservation of synthetic lethal interactions, gene pairs from yeast and humans were analyzed; a total of 37,588 candidate gene pairs containing 7,816 genes were collected. Of these, 49.74% of genes had 2-10 interactions, 22.93% were involved in hallmarks of cancer, and 21.61% were identified as core essential genes. Many genes were shown to have important biological roles via functional enrichment analysis, and 65 were identified as potentially crucial in the pathophysiology of cancer. Gene pairs with dysregulated expression patterns had higher prognostic values. Further screening based on mutation and expression levels showed that remaining gene pairs were mainly derived from human predicted or validated pairs, while most predicted pairs from yeast were filtered from analysis. Genes with synthetic lethality were further analyzed with their interactive microRNAs (miRNAs) at the isomiR level which have been widely studied as negatively regulatory molecules. The miRNA-mRNA interaction network revealed that many synthetic lethal genes contributed to the cell cycle (seven of 12 genes), cancer pathways (five of 12 genes), oocyte meiosis, the p53 signaling pathway, and hallmarks of cancer. Our study contributes to the understanding of synthetic lethal interactions and promotes the application of genetic interactions in further cancer precision medicine.
PubMed: 33240468
DOI: 10.1016/j.csbj.2020.10.015 -
Frontiers in Oncology 2020The receptor tyrosine kinase mesenchymal-epithelial transition factor (MET) is frequently altered in cancers and is a common therapeutic target for cancers with MET...
BACKGROUND
The receptor tyrosine kinase mesenchymal-epithelial transition factor (MET) is frequently altered in cancers and is a common therapeutic target for cancers with MET variants. However, abnormal MET alterations and their associations with patient outcome across different cancer types have not been studied simultaneously. In this study, we try to fill the vacancy in a comprehensive manner and capture the full MET alteration spectrum.
METHODS
A total of 10,967 tumor samples comprising 32 cancer types from The Cancer Genome Atlas (TCGA) datasets were analyzed for MET abnormal expression, mutations, and copy number variants (CNVs).
RESULTS
MET abnormal expression, alteration frequency, mutation site distribution, and functional impact varied across different cancer types. Lung adenocarcinoma (LUAD) has most targetable mutations located in the juxtamembrane domain, and both high expression and amplification of MET are significantly associated with poor prognosis. Kidney renal papillary cell carcinoma (KIRP) harbored the third highest alteration frequency of MET, which was dominated by mutations. While most mutations were in the Pkinase_Tyr domain, a few were targetable. Pancreatic adenocarcinoma (PAAD) harbors very few alterations, but increased MET expression is associated with poor outcomes. Esophageal carcinoma (ESCA), stomach adenocarcinoma (STAD), and ovarian serous cystadenocarcinoma (OV) had similar characteristics: a high frequency of MET CNVs but relatively few MET mutations, and high MET expression associated with poor prognosis.
CONCLUSION
This study provided significant and comprehensive information regarding MET abnormal expression, alterations (mutations and CNVs), and their clinical associations among 32 cancer types and offered insights into the full MET alteration spectrum and its implications for prognosis and treatment.
PubMed: 33178590
DOI: 10.3389/fonc.2020.560615 -
International Journal of Clinical and... 2020To explore the clinicopathologic features and differential diagnosis of breast primary mucinous cystadenocarcinoma (MCA).
OBJECTIVE
To explore the clinicopathologic features and differential diagnosis of breast primary mucinous cystadenocarcinoma (MCA).
METHODS
Pathological characteristics and immunophenotype of one case of MCA were analyzed. Literature was reviewed.
RESULTS
Grossly, the area of the tumor cut surface was gelationous. Microscopcally, the tumor was composed of variably sized cystic spaces lined by mucus-rich tumor cells with single columnar, stratified appearance and papillary formation. The degree of cytologic atypia varied from region to region. The tumor cells were positive for CK7, GATA3, negative for CK20, ER, PR and HER2. Most peripheral myoepithelial cells were negative for P63 and SMMHC.
CONCLUSIONS
MCA is a rare primary breast cancer and strikingly similar to ovarian, pancreatic and gastrointestinal counterparts. The diagnosis cannot be made until the metastatic lesion is ruled out. On the other hand, the biologic behavior of MCA is reportedly favorable despite a high proliferation index and triple negative biomarker status. Therefore, the role of adjuvant chemotherapy or radiation is questionable.
PubMed: 33165376
DOI: No ID Found -
European Journal of Radiology Open 2020It is important to identify features on computed tomography (CT) that can distinguish between benign and premalignant or malignant pancreatic cysts to avoid unnecessary...
PURPOSE
It is important to identify features on computed tomography (CT) that can distinguish between benign and premalignant or malignant pancreatic cysts to avoid unnecessary surgeries. This study investigated the preoperative diagnostic evaluation of cystic pancreatic lesions to determine how advanced imaging and clinical factors should guide management.
METHODS
In total, 53 patients with 27 benign and 26 premalignant or malignant cysts were enrolled. CT features of the cysts were compared using univariate and multivariate analyses.
RESULTS
On univariate analysis, a solid component (p < 0.01), septation (p < 0.01), location (p < 0.01), border (p < 0.01), wall enhancement (p = 0.01), lesion margins (p < 0.01), pancreatic atrophy (p = 0.04), and a cystic wall (p < 0.01) were all significantly different between benign and premalignant or malignant cysts. On multivariate analysis, only a solid component (p < 0.01) and septation (p < 0.01) were significant.
CONCLUSION
A thin cystic wall, uniform homogeneity, a clear border, the presence of septation, pancreatic atrophy, and the absence of both wall enhancements and solid components were more frequently seen in benign cysts. A thick wall, lack of homogeneity, the presence of wall enhancements and solid components, absence of septation, only a small degree of pancreatic atrophy, and unclear borders were more frequent among premalignant or malignant cysts. The only CT features to differentiate benign from premalignant or malignant cysts were a solid component and septation.
PubMed: 33163586
DOI: 10.1016/j.ejro.2020.100278 -
Frontiers in Molecular Biosciences 2020Angiotensin-converting enzyme 2 (ACE2) plays a pivotal role in the renin-angiotensin system and is closely related to coronavirus disease of 2019. However, the role of...
Angiotensin-converting enzyme 2 (ACE2) plays a pivotal role in the renin-angiotensin system and is closely related to coronavirus disease of 2019. However, the role of ACE2 in cancers remains unclear. We explored the pan-cancer expression patterns and prognostic value of ACE2 across multiple databases, including Oncomine, PrognoScan, Gene Expression Profiling Interactive Analysis, and Kaplan-Meier Plotter. Then, we investigated the correlations between ACE2 expression and immune infiltration in cancers. We found that tumor tissues had higher expression levels of ACE2 compared with normal tissue in the kidney and the liver and lower expression levels in the lung. High expression levels of ACE2 were beneficial to survival in ovarian serous cystadenocarcinoma, liver hepatocellular carcinoma, kidney renal papillary cell carcinoma, and kidney renal clear cell carcinoma, although this was not the case in lung squamous cell carcinoma. For those with a better prognosis, there were significant positive correlations between ACE2 expression and immune infiltrates, including B cells, CD8 + T cells, CD4 + T cells, neutrophils, macrophages, and dendritic cells. In conclusion, ACE2 could serve as a pan-cancer prognostic biomarker and is correlated with immune infiltrates.
PubMed: 33088807
DOI: 10.3389/fmolb.2020.00189 -
Internal Medicine (Tokyo, Japan) 2020Follow-up computed tomography revealed a 40-mm pancreatic tail cyst in a 59-year-old man with type 1 diabetes mellitus. An intraductal papillary mucinous neoplasm was...
Follow-up computed tomography revealed a 40-mm pancreatic tail cyst in a 59-year-old man with type 1 diabetes mellitus. An intraductal papillary mucinous neoplasm was suspected; mucinous cystic neoplasm (MCN) was not considered because the patient was a man. During follow-up, cyst infection occurred but was improved by conservative treatment. At the 24-month follow up examination, cyst nodules had developed, corresponding to an increase in the carbohydrate antigen 19-9 level. Mucinous cystadenocarcinoma (MCC) was diagnosed pathologically based on distal pancreatectomy. A diagnosis of male MCN/MCC is often delayed, which may lead to a poor prognosis. MCN infection is also rare and poorly recognized. We observed an atypical male case of MCN/MCC.
Topics: CA-19-9 Antigen; Cystadenocarcinoma, Mucinous; Humans; Male; Middle Aged; Pancreas; Pancreatectomy; Pancreatic Cyst; Pancreatic Neoplasms; Tomography, X-Ray Computed
PubMed: 32999265
DOI: 10.2169/internalmedicine.4937-20