scholarly journals Ovarian Mucinous Tumor with Mural Nodules of Anaplastic Carcinoma: A Clinicopathological Analysis of Three Cases Report and Review of Related Literature

2021 ◽  
Author(s):  
Xiaojuan Wang ◽  
Pei Wang ◽  
Yanfeng Xi ◽  
Peng Bu ◽  
Chunyan Wang
Keyword(s):  
Mucinous Adenocarcinoma ◽  
Young Patients ◽  
Germline Mutations ◽  
Anaplastic Carcinoma ◽  
Missense Mutations ◽  
Mucinous Tumor ◽  
Wild Type ◽  
Molecular Features ◽  
Cystic Tumors ◽  
Mural Nodules

Abstract Background:Anaplastic carcinoma mural nodules presenting in ovarian mucinous cystic tumors are very rare. Here, we reported clinicopathological, immunohistochemical and molecular features of 3 such cases, and reviewed the related literature.Case presentation:The expression of pan-cytokeratin (CK) in the mural nodules of all three patients supported the diagnosis of mural nodules of anaplastic carcinoma. Immunohistochemical staining showed wild-type expression of p53 in the mural nodules and mucinous epithelium of Cases 2 and 3, while Case 1 was negative for the p53 mutation. The synchronous expression of p53 in epithelia and mural nodules suggested that mural nodules might be homologous with mucinous adenocarcinoma and might be the result of dedifferentiation of mucinous adenocarcinoma. In the sarcomatoid region of Case 1, p53 was wild-type in spindle cells and multinucleated giant cells in the background. In Case 3, a broad-based serrated adenoma of the appendix was also found. Therefore, exons of tumor-related genes were detected by high-throughput next-generation sequencing (NGS). Missense mutations of PIK3CA and PTEN were found, but no germline mutations were detected.Conclusions:In young patients with sarcomalike mural nodule (SLMNs) morphology, pathological analysis is recommended to avoid overlooking the existence of malignant mural nodules. Serrated lesions occurred in the appendix and ovarian mucinous tumor simultaneously, but no germline mutations were detected by NGS, indicating this was a sporadic case.

Mucinous Tumor of the Gallbladder With a Separate Nodule of Anaplastic Carcinoma

1999 ◽  
Vol 123 (12) ◽  
pp. 1280-1284
Author(s):  
Tsutomu Mizuno ◽  
Tadaaki Eimoto ◽  
Toyohiro Tada ◽  
Hisashi Tateyama ◽  
Hiroshi Inagaki ◽  
...  
Keyword(s):  
Preoperative Diagnosis ◽  
Epithelial Membrane Antigen ◽  
Immunohistochemical Study ◽  
Anaplastic Carcinoma ◽  
Mucinous Tumor ◽  
First Report ◽  
Cystic Tumors ◽  
Old Japanese ◽  
Atypical Cells ◽  
Mural Nodules

Abstract A case of mucinous tumor of the gallbladder with a separate nodule of anaplastic carcinoma is reported. The patient was an 83-year-old Japanese man who underwent cholecystectomy under the preoperative diagnosis of a mucus-producing gallbladder tumor. A mucinous tumor was found in the neck and distal body of the gallbladder, associated with a separate nodule in the fundus. The latter nodule was initially diagnosed as a benign xanthogranulomatous lesion. However, the immunohistochemical study revealed that the atypical cells in the superficial part of the nodule were positive for cytokeratin and epithelial membrane antigen, confirming the diagnosis of anaplastic carcinoma. Although the occurrence of mural nodules in mucinous cystic tumors of the ovary and pancreas is well reported, to our knowledge, this is the first report on the occurrence of a mucinous tumor with a nodule of anaplastic carcinoma in the gallbladder.

scholarly journals Mucinous Ovarian Tumors With Anaplastic Mural Nodules: Case Report

2021 ◽  
Vol 8 ◽  
Author(s):  
Xinxin Zou ◽  
Hao Huang ◽  
Qingyu Zhang ◽  
Zhen Ma ◽  
Yumei Chen ◽  
...  
Keyword(s):  
Surgical Excision ◽  
Exploratory Laparotomy ◽  
Cystic Mass ◽  
Anaplastic Carcinoma ◽  
Diagnostic Methods ◽  
Cystic Tumors ◽  
Partition Walls ◽  
Poorly Differentiated ◽  
The Right ◽  
Mural Nodules

Ovarian mucinous cystic tumors may be associated with various types of mural nodules, which can be classified as benign or malignant (anaplastic carcinoma, sarcoma, carcinosarcoma). However, anaplastic malignant nodules have rarely been reported. Here, we present a case of a 35-year-old woman who presented with abdominal discomfort. Ultrasonography showed a large cystic mass in the pelvic and abdominal cavities measuring 337 × 242 mm. Abdominal computed tomography revealed upper anterior and posterior uterine pelvic cystic lesions based on multiple nodule partition walls and classes. During hospitalization, the patient underwent exploratory laparotomy, which revealed a poorly differentiated ovarian malignant tumor, and subsequent surgical excision was performed. The pathological analysis of the surgical samples of the right ovary revealed a mucinous ovarian tumor, while the mural nodules were classified as anaplastic carcinoma. After surgery, the patient started receiving chemotherapy. Unfortunately, the patient died 6 months later. Mucinous tumor occurring with an anaplastic carcinoma is rare, and the current diagnostic methods are not sufficient in providing an early and accurate diagnosis. Most patients are already in the advanced stage upon diagnosis and combined with poorly differentiated pathological features, the prognosis is extremely poor. Clinicians need to improve the clinical evaluation before surgery and conduct preoperative preparation and communication to improve the prognosis of patients as much as possible.

Carcinosarcoma-like mural nodule in intestinal-type mucinous ovarian of borderline malignancy: a case report

2005 ◽  
Vol 15 (3) ◽  
pp. 549-553 ◽  
Author(s):  
W.-C. Chang ◽  
B.-C. Sheu ◽  
M.-C. Lin ◽  
S.-N. Chow ◽  
S.-C. Huang
Keyword(s):  
Anaplastic Carcinoma ◽  
Intestinal Type ◽  
Mural Nodule ◽  
Mucinous Tumor ◽  
Course Of Disease ◽  
Intraepithelial Carcinoma ◽  
Borderline Malignancy ◽  
Epithelial Atypia ◽  
Worse Prognosis ◽  
Mural Nodules

Epithelial ovarian tumors of borderline malignancy are tumors with histologic features and biologic behavior between benign and frankly malignant epithelial ovarian neoplasms. To date, we cannot accurately predict the patients who are prone to an aggressive course of disease. Here, we present a 35-year-old patient with carcinosarcoma-like mural nodule in intestinal-type mucinous ovarian tumor of borderline malignancy. Foci of intraepithelial carcinoma (about 10%) without stromal invasion are also noted. Total hysterectomy, bilateral salpingo-oophorectomy, appendectomy, and omentectomy were performed, and the frozen pathology during operation showed mucinous tumor of borderline malignancy of left ovary on April 18, 2002. The patient was followed at our outpatient department for 19 months after operation and was free of the disease without any adjuvant chemotherapy. It is difficult to determine whether intestinal-type borderline mucinous tumors with intraepithelial carcinoma are associated with a worse prognosis compared with those with epithelial atypia alone due to disparate results in the published literature. In contrast, most patients with mural nodules of anaplastic carcinoma have had a malignant, often rapid, course. However, too few cases of carcinosarcoma-like mural nodule in mucinous tumor have been published to warrant a conclusion regarding their prognosis.

Ovarian mucinous tumor with mural nodules of anaplastic carcinoma

1989 ◽  
Vol 35 (1) ◽  
pp. 112-119 ◽  
Author(s):  
Yuen-Fu Chan ◽  
H.C. Ho ◽  
S.M. Yau ◽  
L. Ma
Keyword(s):  
Anaplastic Carcinoma ◽  
Mucinous Tumor ◽  
Mural Nodules

scholarly journals The mtDNA mutation spectrum in the PolG mutator mouse reveals germline and somatic selection

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Kendra D. Maclaine ◽  
Kevin A. Stebbings ◽  
Daniel A. Llano ◽  
Justin C. Havird
Keyword(s):  
Mitochondrial Gene ◽  
Point Mutations ◽  
Germline Mutations ◽  
Premature Aging ◽  
Missense Mutations ◽  
Wild Type ◽  
Mtdna Mutation ◽  
Mtdna Mutations ◽  
Strand Asymmetry ◽  
D Loop

Abstract Background Mitochondrial DNA (mtDNA) codes for products necessary for electron transport and mitochondrial gene translation. mtDNA mutations can lead to human disease and influence organismal fitness. The PolG mutator mouse lacks mtDNA proofreading function and rapidly accumulates mtDNA mutations, making it a model for examining the causes and consequences of mitochondrial mutations. Premature aging in PolG mice and their physiology have been examined in depth, but the location, frequency, and diversity of their mtDNA mutations remain understudied. Identifying the locations and spectra of mtDNA mutations in PolG mice can shed light on how selection shapes mtDNA, both within and across organisms. Results Here, we characterized somatic and germline mtDNA mutations in brain and liver tissue of PolG mice to quantify mutation count (number of unique mutations) and frequency (mutation prevalence). Overall, mtDNA mutation count and frequency were the lowest in the D-loop, where an mtDNA origin of replication is located, but otherwise uniform across the mitochondrial genome. Somatic mtDNA mutations have a higher mutation count than germline mutations. However, germline mutations maintain a higher frequency and were also more likely to be silent. Cytosine to thymine mutations characteristic of replication errors were the plurality of basepair changes, and missense C to T mutations primarily resulted in increased protein hydrophobicity. Unlike wild type mice, PolG mice do not appear to show strand asymmetry in mtDNA mutations. Indel mutations had a lower count and frequency than point mutations and tended to be short, frameshift deletions. Conclusions Our results provide strong evidence that purifying selection plays a major role in the mtDNA of PolG mice. Missense mutations were less likely to be passed down in the germline, and they were less likely to spread to high frequencies. The D-loop appears to have resistance to mutations, either through selection or as a by-product of replication processes. Missense mutations that decrease hydrophobicity also tend to be selected against, reflecting the membrane-bound nature of mtDNA-encoded proteins. The abundance of mutations from polymerase errors compared with reactive oxygen species (ROS) damage supports previous studies suggesting ROS plays a minimal role in exacerbating the PolG phenotype, but our findings on strand asymmetry provide discussion for the role of polymerase errors in wild type organisms. Our results provide further insight on how selection shapes mtDNA mutations and on the aging mechanisms in PolG mice.

scholarly journals Benign Mucinous Tumor of Ovary with a Sarcoma-Like Mural Nodule: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-2
Author(s):  
Sailabala Garikaparthi ◽  
Renuka Inuganti Venkata ◽  
Krishna Bharathi Yarlagadda ◽  
Annapurna Parvatala
Keyword(s):  
Case Report ◽  
Ovarian Tumor ◽  
Anaplastic Carcinoma ◽  
Mural Nodule ◽  
Mucinous Tumor ◽  
Middle Aged ◽  
Worse Prognosis ◽  
Mural Nodules

Sarcoma-like mural nodules occur predominantly in middle-aged women. Distinction of these lesions from true sarcomatous nodules and foci of anaplastic carcinoma is important because of the worse prognosis of these tumors in comparison with the favorable behavior of sarcoma-like mural nodules. In this report we describe the case of a 35-year-old woman with a mucinous ovarian tumor having a mural nodule in the wall.

Platelet Activation and Aggregation Induced by Recombinant von Willebrand Factors Reproducing Four Type 2B von Willebrand Disease Missense Mutations

1998 ◽  
Vol 79 (01) ◽  
pp. 211-216 ◽  
Author(s):  
Lysiane Hilbert ◽  
Claudine Mazurier ◽  
Christophe de Romeuf
Keyword(s):  
Platelet Aggregation ◽  
Platelet Activation ◽  
Von Willebrand Disease ◽  
Platelet Glycoprotein ◽  
Missense Mutations ◽  
Inhibit Platelet Aggregation ◽  
Wild Type ◽  
A1 Domain ◽  
Von Willebrand ◽  
Willebrand Factor

SummaryType 2B of von Willebrand disease (vWD) refers to qualitative variants with increased affinity of von Willebrand factor (vWF) for platelet glycoprotein Ib (GPIb). All the mutations responsible for type 2B vWD have been located in the A1 domain of vWF. In this study, various recombinant von Willebrand factors (rvWF) reproducing four type 2B vWD missense mutations were compared to wild-type rvWF (WT-rvWF) for their spontaneous binding to platelets and their capacity to induce platelet activation and aggregation. Our data show that the multimeric pattern of each mutated rvWF is similar to that of WT-rvWF but the extent of spontaneous binding and the capacity to induce platelet activation and aggregation are more important for the R543Q and V553M mutations than for the L697V and A698V mutations. Both the binding of mutated rvWFs to platelets and platelet aggregation induced by type 2B rvWFs are inhibited by monoclonal anti-GPIb and anti-vWF antibodies, inhibitors of vWF binding to platelets in the presence of ristocetin, as well as by aurin tricarboxylic acid. On the other hand, EDTA and a monoclonal antibody directed against GPIIb/IIIa only inhibit platelet aggregation. Furthermore, the incubation of type 2B rvWFs with platelets, under stirring conditions, results in the decrease in high molecular weight vWF multimers in solution, the extent of which appears correlated with that of plasma vWF from type 2B vWD patients harboring the corresponding missense mutation. This study supports that the binding of different mutated type 2B vWFs onto platelet GPIb induces various degrees of platelet activation and aggregation and thus suggests that the phenotypic heterogeneity of type 2B vWD may be related to the nature and/or location of the causative point mutation.

scholarly journals Structural and Thermodynamic Analysis of the Resistance Development to Pimodivir (VX-787), the Clinical Inhibitor of Cap Binding to PB2 Subunit of Influenza A Polymerase

Molecules ◽  
2021 ◽  
Vol 26 (4) ◽  
pp. 1007
Author(s):  
Jiří Gregor ◽  
Kateřina Radilová ◽  
Jiří Brynda ◽  
Jindřich Fanfrlík ◽  
Jan Konvalinka ◽  
...  
Keyword(s):  
Thermodynamic Analysis ◽  
Influenza A ◽  
Polymerase Activity ◽  
Second Phase ◽  
Missense Mutations ◽  
Wild Type ◽  
Resistance Development ◽  
Third Phase ◽  
Major Mutation ◽  
Control And Prevention

Influenza A virus (IAV) encodes a polymerase composed of three subunits: PA, with endonuclease activity, PB1 with polymerase activity and PB2 with host RNA five-prime cap binding site. Their cooperation and stepwise activation include a process called cap-snatching, which is a crucial step in the IAV life cycle. Reproduction of IAV can be blocked by disrupting the interaction between the PB2 domain and the five-prime cap. An inhibitor of this interaction called pimodivir (VX-787) recently entered the third phase of clinical trial; however, several mutations in PB2 that cause resistance to pimodivir were observed. First major mutation, F404Y, causing resistance was identified during preclinical testing, next the mutation M431I was identified in patients during the second phase of clinical trials. The mutation H357N was identified during testing of IAV strains at Centers for Disease Control and Prevention. We set out to provide a structural and thermodynamic analysis of the interactions between cap-binding domain of PB2 wild-type and PB2 variants bearing these mutations and pimodivir. Here we present four crystal structures of PB2-WT, PB2-F404Y, PB2-M431I and PB2-H357N in complex with pimodivir. We have thermodynamically analysed all PB2 variants and proposed the effect of these mutations on thermodynamic parameters of these interactions and pimodivir resistance development. These data will contribute to understanding the effect of these missense mutations to the resistance development and help to design next generation inhibitors.

scholarly journals Investigation of the Stability of Yeast rad52 Mutant Proteins Uncovers Post-translational and Transcriptional Regulation of Rad52p

Genetics ◽  
2003 ◽  
Vol 163 (1) ◽  
pp. 91-101 ◽  
Author(s):  
Erin N Asleson ◽  
Dennis M Livingston
Keyword(s):  
Half Life ◽  
Translational Regulation ◽  
Cellular Level ◽  
Missense Mutations ◽  
Wild Type ◽  
Mutant Proteins ◽  
Gal1 Promoter ◽  
Rad52 Protein ◽  
The Stability ◽  
Mutant Forms

Abstract We investigated the stability of the Saccharomyces cerevisiae Rad52 protein to learn how a cell controls its quantity and longevity. We measured the cellular levels of wild-type and mutant forms of Rad52p when expressed from the RAD52 promoter and the half-lives of the various forms of Rad52p when expressed from the GAL1 promoter. The wild-type protein has a half-life of 15 min. rad52 mutations variably affect the cellular levels of the protein products, and these levels correlate with the measured half-lives. While missense mutations in the N terminus of the protein drastically reduce the cellular levels of the mutant proteins, two mutations—one a deletion of amino acids 210-327 and the other a missense mutation of residue 235—increase the cellular level and half-life more than twofold. These results suggest that Rad52p is subject to post-translational regulation. Proteasomal mutations have no effect on Rad52p half-life but increase the amount of RAD52 message. In contrast to Rad52p, the half-life of Rad51p is >2 hr, and RAD51 expression is unaffected by proteasomal mutations. These differences between Rad52p and Rad51p suggest differential regulation of two proteins that interact in recombinational repair.

scholarly journals Hypoplastic Myelodysplastic Syndromes: Just an Overlap Syndrome?

Cancers ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 132
Author(s):  
Bruno Fattizzo ◽  
Fabio Serpenti ◽  
Wilma Barcellini ◽  
Chiara Caprioli
Keyword(s):  
Bone Marrow ◽  
Aplastic Anemia ◽  
Clonal Selection ◽  
Cytotoxic T Cells ◽  
Immunosuppressive Treatment ◽  
Young Patients ◽  
Suppressor Cells ◽  
Molecular Alterations ◽  
Molecular Features ◽  
Increased Risk

Myelodysplasias with hypocellular bone marrow (hMDS) represent about 10–15% of MDS and are defined by reduced bone marrow cellularity (i.e., <25% or an inappropriately reduced cellularity for their age in young patients). Their diagnosis is still an object of debate and has not been clearly established in the recent WHO classification. Clinical and morphological overlaps with both normo/hypercellular MDS and aplastic anemia include cytopenias, the presence of marrow hypocellularity and dysplasia, and cytogenetic and molecular alterations. Activation of the immune system against the hematopoietic precursors, typical of aplastic anemia, is reckoned even in hMDS and may account for the response to immunosuppressive treatment. Finally, the hMDS outcome seems more favorable than that of normo/hypercellular MDS patients. In this review, we analyze the available literature on hMDS, focusing on clinical, immunological, and molecular features. We show that hMDS pathogenesis and clinical presentation are peculiar, albeit in-between aplastic anemia (AA) and normo/hypercellular MDS. Two different hMDS phenotypes may be encountered: one featured by inflammation and immune activation, with increased cytotoxic T cells, increased T and B regulatory cells, and better response to immunosuppression; and the other, resembling MDS, where T and B regulatory/suppressor cells prevail, leading to genetic clonal selection and an increased risk of leukemic evolution. The identification of the prevailing hMDS phenotype might assist treatment choice, inform prognosis, and suggest personalized monitoring.

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