scholarly journals Inherited Thyroid Tumors With Oncocytic Change

2021 ◽  
Vol 12 ◽  
Author(s):  
Marcelo Correia ◽  
Ana Rita Lima ◽  
Rui Batista ◽  
Valdemar Máximo ◽  
Manuel Sobrinho-Simões
Keyword(s):  
Malignant Tumors ◽  
Familial Aggregation ◽  
Genetic Alterations ◽  
Incomplete Penetrance ◽  
Thyroid Tumors ◽  
Medullary Thyroid ◽  
Additional Layer ◽  
Malignant Lesions ◽  
Pathological Behavior ◽  
Familial Context

Familial non-medullary thyroid carcinoma (FNMTC) corresponds to 5-10% of all follicular cell-derived carcinoma (FCDTC). Oncocytic thyroid tumors have an increased incidence in the familial context in comparison with sporadic FCDTC, encompassing benign and malignant tumors in the same family presenting with some extent of cell oxyphilia. This has triggered the interest of our and other groups to clarify the oncocytic change, looking for genetic markers that could explain the emergence of this phenotype in thyroid benign and malignant lesions, focusing on familial aggregation. Despite some advances regarding the identification of the gene associated with retinoic and interferon-induced mortality 19 (GRIM-19), as one of the key candidate genes affected in the “Tumor with Cell Oxyphilia” (TCO) locus, most of the mutations follow a pattern of “private mutations”, almost exclusive to one family. Moreover, no causative genetic alterations were identified so far in most families. The incomplete penetrance of the disease, the diverse benign and malignant phenotypes in the affected familial members and the variable syndromic associations create an additional layer of complexity for studying the genetic alterations in oncocytic tumors. In the present review, we summarized the available evidence supporting genomic-based mechanisms for the oncocytic change, particularly in the context of FNMTC. We have also addressed the challenges and gaps in the aforementioned mechanisms, as well as molecular clues that can explain, at least partially, the phenotype of oncocytic tumors and the respective clinico-pathological behavior. Finally, we pointed to areas of further investigation in the field of oncocytic (F)NMTC with translational potential in terms of therapy.

scholarly journals Metachronous and Synchronous Occurrence of 5 Primary Malignancies in a Female Patient between 1997 and 2013: A Case Report with Germline and Somatic Genetic Analysis

2017 ◽  
Vol 10 (3) ◽  
pp. 1006-1012 ◽  
Author(s):  
Jenny Nyqvist ◽  
Fredrik Persson ◽  
Toshima Z. Parris ◽  
Khalil Helou ◽  
Elisabeth Kenne Sarenmalm ◽  
...  
Keyword(s):  
Malignant Tumors ◽  
Familial Aggregation ◽  
Colon Adenocarcinoma ◽  
Colon Surgery ◽  
Genetic Alterations ◽  
Spindle Cell Sarcoma ◽  
Malignant Neoplasms ◽  
Sequencing Analysis ◽  
Multiple Primary Malignancies ◽  
Number Of Patients

The number of patients with multiple primary malignancies has been increasing steadily in recent years. In the present study, we describe a unique case of an 81-year-old woman with 5 metachronous and synchronous primary malignant neoplasms. The patient was first diagnosed with an endometrium adenocarcinoma in 1997 and a colon adenocarcinoma in 2002. Eleven years after her colon surgery, in 2013, the patient presented with 3 other primary malignancies within a 4-month time span: an invasive malignant melanoma on the lower leg, an invasive mucinous breast carcinoma in the right breast, and a pleomorphic spindle cell sarcoma on the left upper arm. Subsequent routine medical checkups in 2013–2017 revealed no metastases of the primary malignancies. The patient mentioned a familial aggregation of malignant tumors, including 2 sisters with breast cancer and a brother with lung cancer. Interestingly, next-generation sequencing analysis of the patient’s blood sample detected no mutations in the BRCA1, BRCA2, TP53, PTEN, CDH1, PALB2, RAD51C, RAD51D, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, STK11, BMPR1A, SMAD4, PTEN, POLE, POLD1, GREM1, and GALNT12 genes. Therefore, whole genome sequencing is warranted to identify cancer-related genetic alterations in this patient with quintuple primary malignancies.

scholarly journals Oncocytic Change in Thyroid Pathology

2021 ◽  
Vol 12 ◽  
Author(s):  
Sylvia L. Asa ◽  
Ozgur Mete
Keyword(s):  
Malignant Tumors ◽  
Genetic Alterations ◽  
Thyroid Tumors ◽  
C Cells ◽  
Cell Of Origin ◽  
Molecular Alterations ◽  
Thyroid Pathology ◽  
Thyroid C Cells ◽  
Eosinophilic Cytoplasm ◽  
Abundant Eosinophilic Cytoplasm

Oncocytes are cells that have abundant eosinophilic cytoplasm due to the accumulation of mitochondria; they are also known as oxyphils. In the thyroid they have been called Hürthle cells but this is a misnomer, since Hürthle described C cells; for this reason, we propose the use of “oncocyte” as a scientific term rather than an incorrect eponym. Oncocytic change occurs in nontumorous thyroid disorders, in benign and malignant tumors of thyroid follicular cells, in tumors composed of thyroid C cells, and intrathyroidal parathyroid proliferations as well as in metastatic lesions. The morphology of primary oncocytic thyroid tumors is similar to that of their non-oncocytic counterparts but also is complicated by the cytologic features of these cells that include both abundant eosinophilic cytoplasm and large cherry red nucleoli. The molecular alterations in oncocytic thyroid tumors echo those of their non-oncocytic counterparts but in addition feature mitochondrial DNA mutations as well as chromosomal gains and losses. In this review we emphasize the importance of recognition of the spectrum of oncocytic thyroid pathology. The cell of origin, morphologic features including architecture, nuclear atypia and invasive growth, as well as high grade features such as mitoses and necrosis, enable accurate classification of these lesions. The molecular alterations underlying the pathological entity are associated with genetic alterations associated with oncocytic change. The arbitrary cut-off of 75% oncocytic change to classify a lesion as an oncocytic variant brings another complexity to the classification scheme of tumors that frequently have mixed oncocytic and non-oncocytic components. This controversial and often confusing area of thyroid pathology requires thoughtful and cautious investigation to clarify accurate diagnosis, prognosis and prediction for patients with oncocytic thyroid lesions.

scholarly journals Thyroid Follicular Adenoma with Tracheal Stenosis

2021 ◽  
Vol 6 (4) ◽  
Author(s):  
Kusunoki T ◽  
Wada R
Keyword(s):  
Tracheal Stenosis ◽  
Malignant Tumors ◽  
Follicular Adenoma ◽  
Thyroid Tumor ◽  
Thyroid Tumors ◽  
Thyroid Lymphoma ◽  
Chronic Thyroiditis ◽  
Preoperative Ct ◽  
Malignant Lesions ◽  
Benign Thyroid

Some cases of thyroid malignant tumors and thyroid lymphoma were reported to have caused tracheal stenosis and choking. Benign thyroid tumors with dyspnea due to tracheal stenosis are very rare. We experienced a benign thyroid tumor that caused tracheal stenosis and dyspnea. In the preoperative CT, there was tracheal stenosis due to enlarged bilateral thyroid lobes and the width of the stenotic lumen was 7mm. Subtotal thyroidectomy improved the dyspnea. Postoperative histopathologic examination confirmed follicular adenoma without malignant lesions or chronic thyroiditis. On postoperative CT, the tracheal stenosis had improved and the lumen had increased to 15mm. The above findings would suggest that it should be keep in mind that even benign thyroid tumors with tracheal stenosis of less than 7mm in the lumen have the possibility of causing dyspnea.

A prospective observational study on the effectiveness of risk of malignancy index score (RMI 3) in a tertiary care centre in Eastern India

2020 ◽  
Vol 11 (5) ◽  
pp. 54-60
Author(s):  
Apurba Mandal ◽  
Shibram Chattopadhyay ◽  
Sushanta Mondal ◽  
Arunava Biswas
Keyword(s):  
Ovarian Cancer ◽  
Adnexal Mass ◽  
Malignant Tumors ◽  
Histopathological Examination ◽  
Tertiary Care ◽  
Ca 125 ◽  
Tertiary Care Centre ◽  
Gynecology And Obstetrics ◽  
Risk Of Malignancy ◽  
Malignant Lesions

Background: Adnexal mass is a common presentation in today’s gynecological practice. The incidence of ovarian cancer is increasing day by day and diagnosis is often difficult to be made pre operatively with inadequate surgical exploration is a regular occurrence. Aims and Objectives: To assess and validate the importance of RMI-3 score as pre-operative diagnostic tool of differentiating benign from malignant adnexal mass for starting first line therapy of ovarian cancer and to find out the incidences of ovarian malignancy among study population. Material and Methods: The study was conducted in the Department of Gynecology and Obstetrics on (n=115) patients attending GOPD and indoor with adnexal mass fulfilling the inclusion and exclusion criteria using purposive sampling technique. All the selected cases underwent ultrasonography and serum CA- 125 level estimation necessary for calculating RMI score. A score of >200 was taken as suggestive of malignancy and confirmatory diagnosis was performed by histopathological examination obtained from staging laparotomy of adnexal mass. The individual scores were then correlated with final outcomes with statistical analyses. Results: The study revealed benign ovarian tumors are more under 50 years (78.46%) and patients with normal BMI are diagnosed with maximum of malignancy (n = 28). History of tubal ligation carried less risk of malignancy (p<0.0001). Histologically malignant tumors found mostly in 71.4% postmenopausal group whereas 94.1% benign pathology were present in perimenopausal group and there is no association found between parity and histopathology (p=0.058). Bilateral (p=0.013), multilocular (p=0.000) tumors with solid areas (p<0.0001) and thick papillary projections (p<0.0001) had statistically significant association with malignant lesions. RMI score (>200) had more efficacy than serum CA-125 level (>46) in differentiating malignant lesions from benign one in terms of specificity (96% vs 83.87%) and positive predictive value (95% vs 79.17%). Conclusions: RMI-3 score is a simple, reliable and effective tool in differentiating benign from malignant adnexal masses thereby help in quick referral and management of cases with increase chances of survival of the patients.

scholarly journals Combined quantitation of HMGA2 mRNA, microRNAs, and mitochondrial-DNA content enables the identification and typing of thyroid tumors in fine-needle aspiration smears

BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Sergei E. Titov ◽  
Mikhail K. Ivanov ◽  
Pavel S. Demenkov ◽  
Gevork A. Katanyan ◽  
Eugenia S. Kozorezova ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Molecular Markers ◽  
Fine Needle Aspiration ◽  
Real Time Pcr ◽  
Thyroid Nodules ◽  
Nuclear Dna ◽  
Malignant Tumors ◽  
Needle Aspiration ◽  
Thyroid Tumors ◽  
Fine Needle

Abstract Background Analysis of molecular markers in addition to cytological analysis of fine-needle aspiration (FNA) samples is a promising way to improve the preoperative diagnosis of thyroid nodules. Nonetheless, in clinical practice, applications of existing diagnostic solutions based on the detection of somatic mutations or analysis of gene expression are limited by their high cost and difficulties with clinical interpretation. The aim of our work was to develop an algorithm for the differential diagnosis of thyroid nodules on the basis of a small set of molecular markers analyzed by real-time PCR. Methods A total of 494 preoperative FNA samples of thyroid goiters and tumors from 232 patients with known histological reports were analyzed: goiter, 105 samples (50 patients); follicular adenoma, 101 (48); follicular carcinoma, 43 (28); Hürthle cell carcinoma, 25 (11); papillary carcinoma, 121 (56); follicular variant of papillary carcinoma, 80 (32); and medullary carcinoma, 19 (12). Total nucleic acids extracted from dried FNA smears were analyzed for five somatic point mutations and two translocations typical of thyroid tumors as well as for relative concentrations of HMGA2 mRNA and 13 microRNAs and the ratio of mitochondrial to nuclear DNA by real-time PCR. A decision tree–based algorithm was built to discriminate benign and malignant tumors and to type the thyroid cancer. Leave-p-out cross-validation with five partitions was performed to estimate prediction quality. A comparison of two independent samples by quantitative traits was carried out via the Mann–Whitney U test. Results A minimum set of markers was selected (levels of HMGA2 mRNA and miR-375, − 221, and -146b in combination with the mitochondrial-to-nuclear DNA ratio) and yielded highly accurate discrimination (sensitivity = 0.97; positive predictive value = 0.98) between goiters with benign tumors and malignant tumors and accurate typing of papillary, medullary, and Hürthle cell carcinomas. The results support an alternative classification of follicular tumors, which differs from the histological one. Conclusions The study shows the feasibility of the preoperative differential diagnosis of thyroid nodules using a panel of several molecular markers by a simple PCR-based method. Combining markers of different types increases the accuracy of classification.

scholarly journals Lymphoid and mesenchymal tumors in transgenic mice expressing the v-fps protein-tyrosine kinase.

1989 ◽  
Vol 9 (12) ◽  
pp. 5491-5499 ◽  
Author(s):  
S P Yee ◽  
D Mock ◽  
P Greer ◽  
V Maltby ◽  
J Rossant ◽  
...  
Keyword(s):  
T Cell ◽  
Transgenic Mice ◽  
Tyrosine Kinase ◽  
Protein Tyrosine Kinase ◽  
Malignant Tumors ◽  
Tumor Formation ◽  
Incomplete Penetrance ◽  
Regulatory Sequences ◽  
Beta Globin ◽  
Protein Tyrosine

src, abl, and fps/fes are prototypes for a family of genes encoding nonreceptor protein-tyrosine kinases. The oncogenic potential of the v-fps protein-tyrosine kinase was investigated by introduction of the gag-fps coding sequence of Fujinami sarcoma virus into the mouse germ line. Transgenic mice with v-fps under the transcriptional control of a 5' human beta-globin promoter (GF) or with both 5' and 3' beta-globin regulatory sequences (GEF) were viable. Unexpectedly, both GF and GEF transgenes were expressed in a wide variety of tissues and induced a spectrum of benign and malignant tumors. These tumors, which included lymphomas, thymomas, fibrosarcomas, angiosarcomas, hemangiomas, and neurofibrosarcomas, developed with various frequencies after latent periods of 2 to 12 months. The majority of lymphoid neoplasms appeared to be of T-cell origin and were monoclonal, as judged by rearrangements of the T-cell receptor beta or immunoglobulin genes. Some tissues that expressed the v-fps oncogene, such as heart, brain, lung, and testes, developed no malignant tumors. The v-fps protein-tyrosine kinase therefore has a broad but not unrestricted range of oncogenic activity in cells of lymphoid and mesenchymal origin. The incomplete penetrance of the neoplastic phenotype and the monoclonality of lymphoid tumors suggest that tumor formation in v-fps mice requires genetic or epigenetic events in addition to expression of the P130gag-fps protein-tyrosine kinase.

An observational study of benign oral lesions in central India

2017 ◽  
Vol 3 (4) ◽  
pp. 816
Author(s):  
Prashant N. Keche ◽  
Nishikant P. Gadpayle ◽  
Surendra H. Gawarle ◽  
Gaurav A. Chamania
Keyword(s):  
Oral Cavity ◽  
Malignant Tumors ◽  
Early Stage ◽  
Minor Salivary Gland ◽  
Salivary Gland Tumor ◽  
Oral Lesions ◽  
Age Group ◽  
Cross Sectional ◽  
Male Predominance ◽  
Malignant Lesions

<p class="abstract"><strong>Background:</strong> <span lang="EN-IN">The oral mucosa serves as a protective barrier against trauma, pathogens and carcinogenic agents. It can be affected by a wide variety of lesions and conditions, some of which are harmless while others may have serious complications. The appearance of benign oral soft tissue masses can occasionally resemble malignant tumors. </span></p><p class="abstract"><strong>Methods:</strong> <span lang="EN-IN">Present study is an observational and cross sectional study under taken in the Department of ENT in Shri Vasant Rao Naik Government Medical College, Yavatmal. All cases of benign oral lesions were included in the study and following cases were excluded: malignant oral lesions, immunocompromised state and benign Oral lesions due to systemic diseases.  </span></p><p class="abstract"><strong>Results:</strong> <span lang="EN-IN">Present study included 235 lesions of oral cavity which were clinically or histo-pathologically found to be benign in nature.<strong> </strong>Benign oral lesions were more commonly found in males with (70.2%) than females (29.8%), and M:F ratio was 2.3:1. most common benign oral lesions were found to be Oral Sub Mucus Fibrosis (26.8%) followed by Apthous ulcers (20.4%), Leukoplakia (18.3%) and Mucocele (17.1%). Least common benign oral lesions were found to be Minor Salivary Gland Tumor (MSGT) (1.7%) followed by Squamous Papilloma (2.1%), Ranula (2.1%) and Hemangioma (2.1). There was a male predominance in oral sub mucus fibrosis with M:F ratio of 9.5:1 followed by Leukoplakia with M:F ratio of 4.4:1. OSMF was found most commonly in 21-30 years age group with (57.1%). Followed by 11-20 years with (20.6%). No cases were found in ≤10 years, 51-60 and &gt;60 years age group. </span></p><p class="abstract"><strong>Conclusions:</strong> <span lang="EN-IN">Most of the benign oral lesions have a predilection to transform into malignant lesions therefore imperative to diagnose the pre malignant lesions of oral cavity in an early stage where appropriate treatment can be given.</span></p>

scholarly journals The Autoimmune Model of Schizophrenia

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
D. D. Adams ◽  
J. G. Knight ◽  
A. Ebringer
Keyword(s):  
Immune Response ◽  
Autoimmune Diseases ◽  
Familial Aggregation ◽  
Thyroid Stimulating Hormone ◽  
Incomplete Penetrance ◽  
Immune Response Genes ◽  
Mendelian Genetics ◽  
V Genes ◽  
The Brain ◽  
Possible Cause

Schizophrenia is of mysterious causation. It is not infectious, not congenital, but shows familial aggregation, the Mendelian genetics indicating involvement of multiple codominant genes with incomplete penetrance. This is the pattern for autoimmune diseases, such as Graves’ disease of the thyroid, where forbidden clones of B lymphocytes develop, and cause thyrotoxicosis by secreting autoantibodies that react with the thyroid gland’s receptor for thyroid-stimulating hormone from the pituitary gland. In 1982, Knight postulated that autoantibodies affecting the function of neurons in the limbic region of the brain are a possible cause of schizophrenia. Today, this is even more probable, with genes predisposing to schizophrenia having being found to be immune response genes, one in the MHC and two for antibody light chain V genes. Immune response genes govern the immune repertoire, dictating the genetic risk of autoimmune diseases. The simplest test for an autoimmune basis of schizophrenia would be trial of immunosuppression with prednisone in acute cases. The urgent research need is to find the microbial trigger, as done by Ebringer for rheumatoid arthritis and for ankylosing spondylitis. This could lead to prophylaxis of schizophrenia by vaccination against the triggering microbe.

scholarly journals The Possible Role of Mena Protein and Its Splicing-Derived Variants in Embryogenesis, Carcinogenesis, and Tumor Invasion: A Systematic Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Simona Gurzu ◽  
Diana Ciortea ◽  
Istvan Ember ◽  
Ioan Jung
Keyword(s):  
Tumor Invasion ◽  
Malignant Tumors ◽  
Splice Variants ◽  
Experimental Studies ◽  
Premalignant Lesions ◽  
Predictive Values ◽  
Metastatic Behavior ◽  
Malignant Lesions ◽  
Epithelial Lesions

The Ena/VASP (enabled/vasodilator stimulated phosphoprotein) family includes the binding actin proteins such as mammalian Ena (Mena), VASP, and Ena-VASP-like. It is known that the perturbation of actin cycle could determine alteration in the mobility of cells and in consequence of organogenesis. Few recent studies have revealed that Mena protein could play a role in breast or pancreatic carcinogenesis. Based on our researches, we observed that the intensity of Mena expression increased from premalignant to malignant lesions in some organs such as large bowel, stomach, cervix, and salivary glands. These findings prove that Mena could be a marker of premalignant epithelial lesions. In premalignant lesions, it could be helpful to define more accurately the risk for malignant transformation. In malignant tumors, correlation of expression of its splice variants could indicate metastatic behavior. In conclusion, we consider that it is necessary to analyze the expression of Mena splice variants in a higher number of cases, in different epithelial lesions, and also in experimental studies to define its exact role in carcinogenesis and also its possible prognostic and predictive values.

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