scholarly journals The Molecular Pathogenesis of Trichilemmal Carcinoma

2020 ◽  
Author(s):  
Jeong Hyun Ha ◽  
Cheol Lee ◽  
Kyu Sang Lee ◽  
Chang-sik Pak ◽  
Choong-Hyun Sun ◽  
...  
Keyword(s):  
Clinical Course ◽  
Genetic Alterations ◽  
Molecular Pathogenesis ◽  
Cancer Genes ◽  
Genetic Changes ◽  
Tp53 Mutations ◽  
Truncating Mutation ◽  
Skin Cancers ◽  
Aggressive Clinical Course ◽  
Insight Into

Abstract Background : Trichilemmal carcinoma (TC) is an extremely rare hair follicle tumor. We aimed to explore the genetic abnormalities involved in TC to gain insight into its molecular pathogenesis. Methods : Data from patients diagnosed with TC within a 12-year period were retrospectively reviewed. Genomic DNA isolated from a formalin-fixed paraffin-embedded (FFPE) tumor tissue block was sequenced and explored for a panel of cancer genes. Results : DNA was extracted from the FFPE tissue of four patients (50% female; mean age, 51.5 years) diagnosed with TC for analysis. The tumor was located in the head and neck of three patients and in the shoulder of one patient. TP53 mutations (p.Arg213*, p.Arg249Trp, and p.Arg248Gln) were found in three patients. Fusions previously identified in melanoma were detected in two patients ( TACC3-FGFR3 and ROS1-GOPC fusions). Other mutations found included NF1-truncating mutation (Arg1362*), NRAS mutation (p.Gln61Lys), TOP1 amplification, and PTEN deletion. Overall, genetic changes found in TC resemble that of other skin cancers, suggesting similar pathogenesis. All patients with TP53 mutations had aggressive clinical course, two who died (OS 93 and 36 months), and one who experienced recurrent relapse. Conclusions : We reported the genomic variations found in TC, which may give insight into the molecular pathogenesis. Overall, genetic changes found in TC resembled that of other skin cancers, suggesting similar pathogenesis. TP53 mutations was were identified in patients who had an aggressive clinical course. Genetic alterations identified may further suggest the potential treatment options of TC.

scholarly journals The Molecular Pathogenesis of Trichilemmal Carcinoma

2020 ◽  
Author(s):  
Jeong Hyun Ha ◽  
Cheol Lee ◽  
Kyu Sang Lee ◽  
Chang-sik Pak ◽  
Choong-Hyun Sun ◽  
...  
Keyword(s):  
Clinical Course ◽  
Treatment Options ◽  
Genetic Alterations ◽  
Molecular Pathogenesis ◽  
Cancer Genes ◽  
Genetic Changes ◽  
Truncating Mutation ◽  
Skin Cancers ◽  
Aggressive Clinical Course ◽  
Insight Into

Abstract Background: Trichilemmal carcinoma (TC) is an extremely rare hair follicle tumor. We aimed to explore the genetic abnormalities involved in TC to gain insight into its molecular pathogenesis.Methods: Data from patients diagnosed with TC within a 12-year period were retrospectively reviewed. Genomic DNA isolated from a formalin-fixed paraffin-embedded (FFPE) tumor tissue block was sequenced and explored for a panel of cancer genes.Results: DNA was extracted from the FFPE tissue of four patients (50% female; mean age, 51.5 years) diagnosed with TC for analysis. The tumor was located in the head and neck of three patients and in the shoulder of one patient. TP53 mutations (p.Arg213*, p.Arg249Trp, and p.Arg248Gln) were found in three patients. Fusions previously identified in melanoma were detected in two patients (TACC3-FGFR3 and ROS1-GOPC fusions). Other mutations found included NF1-truncating mutation (Arg1362*), NRAS mutation (p.Gln61Lys), TOP1 amplification, and PTEN deletion. Overall, genetic changes found in TC resemble that of other skin cancers, suggesting similar pathogenesis. All patients with TP53 mutations had aggressive clinical course, two who died (OS 93 and 36 months), and one who experienced recurrent relapse.Conclusions: We reported the genomic variations found in TC, which may give insight into the molecular pathogenesis. Overall, genetic changes found in TC resembled that of other skin cancers, suggesting similar pathogenesis. TP53 mutations was were identified in patients who had an aggressive clinical course. Genetic alterations identified may further suggest the potential treatment options of TC.

scholarly journals ENDOCRINE TUMOURS: Advances in the molecular pathogenesis of thyroid cancer: lessons from the cancer genome

2016 ◽  
Vol 175 (5) ◽  
pp. R203-R217 ◽  
Author(s):  
Garcilaso Riesco-Eizaguirre ◽  
Pilar Santisteban
Keyword(s):  
Thyroid Cancer ◽  
Cancer Genomics ◽  
Treatment Strategies ◽  
Genetic Alterations ◽  
Cancer Genome ◽  
Molecular Pathogenesis ◽  
Cancer Genes ◽  
New Information ◽  
Novel Treatment Strategies ◽  
And Behavior

Thyroid cancer is the most common endocrine malignancy giving rise to one of the most indolent solid cancers, but also one of the most lethal. In recent years, systematic studies of the cancer genome, most importantly those derived from The Cancer Genome Altas (TCGA), have catalogued aberrations in the DNA, chromatin, and RNA of the genomes of thousands of tumors relative to matched normal cellular genomes and have analyzed their epigenetic and protein consequences. Cancer genomics is therefore providing new information on cancer development and behavior, as well as new insights into genetic alterations and molecular pathways. From this genomic perspective, we will review the main advances concerning some essential aspects of the molecular pathogenesis of thyroid cancer such as mutational mechanisms, new cancer genes implicated in tumor initiation and progression, the role of non-coding RNA, and the advent of new susceptibility genes in thyroid cancer predisposition. This look across these genomic and cellular alterations results in the reshaping of the multistep development of thyroid tumors and offers new tools and opportunities for further research and clinical development of novel treatment strategies.

Genetic Abnormalities Involved in the Development and Progression of Follicular Lymphoma.

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 2049-2049
Author(s):  
Karen E Deffenbacher ◽  
George Wright ◽  
Javeed Iqbal ◽  
Huimin Geng ◽  
Derville O’Shea ◽  
...  
Keyword(s):  
Gene Expression ◽  
High Resolution ◽  
Follicular Lymphoma ◽  
Copy Number ◽  
Clinical Course ◽  
B Cell Lymphoma ◽  
Genetic Alterations ◽  
Comparative Genomic ◽  
Oncogenic Pathways ◽  
Insight Into

Abstract Background: Follicular lymphoma (FL) is the most common indolent B-cell lymphoma and remains incurable by current therapeutic approaches. Clinical course is variable, and transformation into an aggressive lymphoma (t-FL) with marked worsening of prognosis occurs in 20–60% of patients. While Bcl2 gene translocation is a critical initiating event in the majority of FL cases, evidence indicates it is not sufficient for the development of a FL. Characterization of the genetic alterations subsequent to Bcl2 translocation will lend insight into the oncogenic pathways that contribute to FL pathogenesis and the molecular mechanisms underlying variability in clinical course. Methods: To define recurrent genomic copy number alterations (CNA) in FL, we performed high resolution array comparative genomic hybridization (aCGH) using the Affymetrix 500K SNP array platform. aCGH data were generated on a series of 112 FL cases with available gene expression profiling (GEP) and clinical information. Gene expression data were correlated with copy number data using the Gene Expression and Dosage Integrator (GEDI) algorithm developed at the NCI. Results: Selecting for abnormalities occurring in >10% of cases, the minimal common region (MCR) for 38 losses and 31 gains were defined. Novel common regions included gains on 15q11, 16p11, 5p14 and 19q13, and losses on 3q29, and 16p13. The MCR identified by aCGH were also compared with our existing cytogenetic data on 360 FL cases. MCR residing within the most frequent cytogenetic imbalances (>5%) were selected for analysis at the gene level to further refine these regions. These include gains on 1q21, 2p16, 7q11, 8q24, 12q13, 17q21, 18q21, 21q11, and X, and losses on 1p36, 6q, 10q, 13q34, and 17p13. Recurrent amplifications were detected for the 2p16, 15q11, and 17q21 MCR, while frequent uniparental disomy (UPD) was found to overlap the region of loss on 1p36. Recurrent UPD was also noted on 6p, 12q, 15q and 16p. For the majority of selected MCR, global expression of the genes residing in the MCR demonstrated an association with copy number status. Within these abnormalities, individual genes showing significant correlation with copy number were also identified. Conclusion: The combination of high resolution aCGH and GEP facilitated the identification of functionally relevant genes within the chromosomal abnormalities in FL. Delineation of these molecular targets will provide insight into the oncogenic pathways that contribute to FL disease pathogenesis and may provide novel therapeutic targets.

scholarly journals Mutated p53 in HGSC—From a Common Mutation to a Target for Therapy

Cancers ◽  
2021 ◽  
Vol 13 (14) ◽  
pp. 3465
Author(s):  
Aya Saleh ◽  
Ruth Perets
Keyword(s):  
Cancer Progression ◽  
Target Genes ◽  
P53 Protein ◽  
Genetic Alterations ◽  
Common Mutation ◽  
Missense Mutations ◽  
P53 Expression ◽  
Histologic Subtype ◽  
Tp53 Mutations

Mutations in tumor suppressor gene TP53, encoding for the p53 protein, are the most ubiquitous genetic variation in human ovarian HGSC, the most prevalent and lethal histologic subtype of epithelial ovarian cancer (EOC). The majority of TP53 mutations are missense mutations, leading to loss of tumor suppressive function of p53 and gain of new oncogenic functions. This review presents the clinical relevance of TP53 mutations in HGSC, elaborating on several recently identified upstream regulators of mutant p53 that control its expression and downstream target genes that mediate its roles in the disease. TP53 mutations are the earliest genetic alterations during HGSC pathogenesis, and we summarize current information related to p53 function in the pathogenesis of HGSC. The role of p53 is cell autonomous, and in the interaction between cancer cells and its microenvironment. We discuss the reduction in p53 expression levels in tumor associated fibroblasts that promotes cancer progression, and the role of mutated p53 in the interaction between the tumor and its microenvironment. Lastly, we discuss the potential of TP53 mutations to serve as diagnostic biomarkers and detail some more advanced efforts to use mutated p53 as a therapeutic target in HGSC.

Mutations of CARD15 gene in Crohn's disease patients are more frequent in ASCA-positive with more aggressive clinical course. An Ig-IBD study

2003 ◽  
Vol 124 (4) ◽  
pp. A376
Author(s):  
Vito Annese ◽  
Arnaldo Andreoli ◽  
Bollani Serafina ◽  
Fabiana Castiglione ◽  
Mario Cottone ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Clinical Course ◽  
Card15 Gene ◽  
Aggressive Clinical Course

scholarly journals Nested variant of urothelial carcinoma of the urinary bladder

Rare Tumors ◽  
2011 ◽  
Vol 3 (4) ◽  
pp. 132-134 ◽  
Author(s):  
Tadashi Terada
Keyword(s):  
Urothelial Carcinoma ◽  
Lamina Propria ◽  
Bladder Tumor ◽  
Clinical Course ◽  
Carcinoma Cells ◽  
Ki 67 ◽  
Atypical Cells ◽  
Nested Variant ◽  
Aggressive Clinical Course ◽  
Nephrogenic Metaplasia

The nested variant of urothelial carcinoma (NVUC) is characterized by the presence of benign-appearing urothelial carcinoma cells in the lamina propria, sparing the surface urothelial involvement. NVUC shows aggressive clinical course despite of benign-looking histology. Herein reported are two cases of NVUC. One is 80-year-old woman, and another is 78-year-old man. In both cases, atypical cells forming nests and tubules were seen in the lamina propria without surface urothelial involvement. One case resembled nephrogenic metaplasia and another proliferated Brunn's nest or inverted papilloma. Immunohistochemically, both cases showed positive p53 and high Ki67 labeling, suggesting that both cases are malignant. Immunohistochemically, one case was characterized by positive cytokeratins, EMA, p53, Ki-67 (labeling=15%), α-methylacyl CoA racemase, CA19-9, and MUC1, and another case by positive cytokeratins, EMA, p63, p53, Ki-67 (lebeling=30%), CD10, CEA, and MUC1. Cyto keratin immunoprofiles were described and other antigens’ expressions were shown. The patients are now free of tumor 6 and 15 months after the resection of the bladder tumor.

Follicular Lymphoma With a Burkitt Translocation—Predictor of an Aggressive Clinical Course: A Case Report and Review of the Literature

2004 ◽  
Vol 128 (2) ◽  
pp. 210-213 ◽  
Author(s):  
Peter M. Voorhees ◽  
Kathryn A. Carder ◽  
Scott V. Smith ◽  
Lanier H. Ayscue ◽  
Kathleen W. Rao ◽  
...  
Keyword(s):  
Case Report ◽  
Follicular Lymphoma ◽  
Clinical Course ◽  
Lymphoblastic Leukemia ◽  
Initial Diagnosis ◽  
Indolent Lymphoma ◽  
Review Of The Literature ◽  
Cell Type ◽  
Aberrant Expression ◽  
Aggressive Clinical Course

Abstract Follicular lymphoma is an indolent lymphoma characterized by the (14;18) translocation, which leads to aberrant expression of Bcl-2. Translocations involving 8q24 are most commonly associated with Burkitt lymphoma and result in c-Myc overexpression. We report a case of follicular lymphoma of predominant small cleaved-cell type (grade 1) associated with both a t(14;18)(q32;q21) and a t(8;22)(q24;q11). The 8q24 translocation predicted an aggressive clinical course, as the lymphoma transformed into acute lymphoblastic leukemia within a year of initial diagnosis. Routine cytogenetic analysis is recommended at initial diagnosis of follicular lymphoma to better identify abnormalities that may predict prognosis and influence therapy.

scholarly journals Atypical clinical course of cerebral arachnoid cyst

2015 ◽  
Vol 17 (2) ◽  
pp. 77
Author(s):  
A. L. Krivoshapkin ◽  
A. V. Gorbatykh ◽  
A. S. Gaytan ◽  
P. A. Semin ◽  
V. V. Kobozev
Keyword(s):  
Surgical Treatment ◽  
Intracranial Pressure ◽  
Female Patient ◽  
Arachnoid Cyst ◽  
Clinical Course ◽  
Operative Management ◽  
Middle Cranial Fossa ◽  
Raised Intracranial Pressure ◽  
Cranial Fossa ◽  
Aggressive Clinical Course

In this publication we report a case of atypical, aggressive clinical course of arachnoid cyst in 19-year old female patient, which caused raised intracranial pressure and disruption of bony structures of the middle cranial fossa and the orbit. It also describes peculiarities of operative management and results of surgical treatment of this patient.

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