Molecular Genetics in the Diagnosis and Prognosis of Solid Pediatric Tumors

1998 ◽  
Vol 1 (5) ◽  
pp. 337-365 ◽  
Author(s):  
Paul S. Thorner ◽  
Jeremy A. Squire
Keyword(s):  
Molecular Genetics ◽  
Fusion Proteins ◽  
Tumor Suppressor Genes ◽  
Prognostic Markers ◽  
Wilms Tumor ◽  
Pediatric Tumors ◽  
Peripheral Primitive Neuroectodermal Tumor ◽  
Genetic Changes ◽  
Pediatric Tumor ◽  
Diagnosis And Prognosis

The field of molecular genetics continues to see an ever increasing number of applications to pediatric tumor analysis. Studies in pediatric tumors have identified novel genes and other genetic changes, a large number of which reflect one of the following mechanisms: ( 1) activation of proto-oncogenes; ( 2) loss of tumor suppressor genes; or ( 3) creation of novel fusion proteins. At least one of these mechanisms is operational in each of the following pediatric tumors: neuroblastoma, Ewing sarcoma and peripheral primitive neuroectodermal tumor (pPNET), intra-abdominal desmoplastic small-cell tumor, rhabdomyosarcoma, synovial sarcoma, and Wilms tumor. Out of this research has come not only an increased understanding of oncogenesis but also, for each of the tumors listed above, diagnostic and/or prognostic markers that can be used by the pathologist and oncologist to improve overall patient management.

Molecular Genetics Of Wilms’ Tumor

1988 ◽  
pp. 7-24
Author(s):  
Vicki Huff ◽  
Duane A. Compton ◽  
Michael M. Weil ◽  
Louise C. Strong ◽  
Grady F. Saunders
Keyword(s):  
Molecular Genetics ◽  
Wilms Tumor

scholarly journals Ten Reasons Why People With Down Syndrome are Protected From the Development of Most Solid Tumors -A Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Marta Pilar Osuna-Marco ◽  
Mónica López-Barahona ◽  
Blanca López-Ibor ◽  
Águeda Mercedes Tejera
Keyword(s):  
Down Syndrome ◽  
Solid Tumors ◽  
Tumor Suppressor Genes ◽  
Wilms Tumor ◽  
Extra Chromosome ◽  
Germ Cell Tumors ◽  
Chromosome 21 ◽  
Testicular Tumors ◽  
Unique Pattern ◽  
Increased Risk

People with Down syndrome have unique characteristics as a result of the presence of an extra chromosome 21. Regarding cancer, they present a unique pattern of tumors, which has not been fully explained to date. Globally, people with Down syndrome have a similar lifetime risk of developing cancer compared to the general population. However, they have a very increased risk of developing certain tumors (e.g., acute leukemia, germ cell tumors, testicular tumors and retinoblastoma) and, on the contrary, there are some other tumors which appear only exceptionally in this syndrome (e.g., breast cancer, prostate cancer, medulloblastoma, neuroblastoma and Wilms tumor). Various hypotheses have been developed to explain this situation. The genetic imbalance secondary to the presence of an extra chromosome 21 has molecular consequences at several levels, not only in chromosome 21 but also throughout the genome. In this review, we discuss the different proposed mechanisms that protect individuals with trisomy 21 from developing solid tumors: genetic dosage effect, tumor suppressor genes overexpression, disturbed metabolism, impaired neurogenesis and angiogenesis, increased apoptosis, immune system dysregulation, epigenetic aberrations and the effect of different microRNAs, among others. More research into the molecular pathways involved in this unique pattern of malignancies is still needed.

Use of Multicolor Spectral Karyotyping in Genetic Analysis of Pleuropulmonary Blastoma

2000 ◽  
Vol 3 (5) ◽  
pp. 479-486 ◽  
Author(s):  
Maja Barnard ◽  
Jane Bayani ◽  
Ronald Grant ◽  
Ikuko Teshima ◽  
Paul Thorner ◽  
...  
Keyword(s):  
Solid Tumors ◽  
Molecular Genetic ◽  
Pleuropulmonary Blastoma ◽  
Pediatric Tumors ◽  
Gene Products ◽  
Spectral Karyotyping ◽  
Trisomy 8 ◽  
Extra Copy ◽  
Pediatric Tumor ◽  
Pediatric Solid Tumors

Pleuropulmonary blastoma (PPB) is a rare, malignant intrathoracic pediatric tumor. It arises from the lung, pleura, or mediastinum and its pathogenesis and relationship to other pediatric solid tumors is not well understood. In this study, a case of PPB in a 3-year-old girl was studied using a combination of molecular genetic methods and cytogenetics. Molecular analysis of the commonly encountered fusion translocation gene products of pediatric solid tumors failed to detect a rearrangement. Cytogenetic analysis, supplemented by multicolor spectral karyotyping (SKY), identified an unbalanced translocation between chromosomes 1 and X, resulting in additional copies of 1q, an extra copy of Xq, and loss of part of Xp. In addition, trisomy 8 was detected. The identification of new chromosomal alterations and confirmation of previously reported ones in this rare neoplasm helps to improve our understanding of its pathogenesis and association with other pediatric tumors.

scholarly journals p63 Is a Promising Marker in the Diagnosis of Unusual Skin Cancer

2019 ◽  
Vol 20 (22) ◽  
pp. 5781 ◽  
Author(s):  
Artem Smirnov ◽  
Lucia Anemona ◽  
Flavia Novelli ◽  
Cristina M. Piro ◽  
Margherita Annicchiarico-Petruzzelli ◽  
...  
Keyword(s):  
Skin Cancer ◽  
Ozone Depletion ◽  
Essential Role ◽  
Climate Changes ◽  
Prognostic Markers ◽  
Common Type ◽  
P53 Family ◽  
Comprehensive Review ◽  
Diagnosis And Prognosis ◽  
Different Types

Skin cancer is the most common type of cancer worldwide. Ozone depletion and climate changes might cause a further increase in the incidence rate in the future. Although the early detection of skin cancer enables it to be treated successfully, some tumours can evolve and become more aggressive, especially in the case of melanoma. Therefore, good diagnostic and prognostic markers are needed to ensure correct detection and treatment. Transcription factor p63, a member of the p53 family of proteins, plays an essential role in the development of stratified epithelia such as skin. In this paper, we conduct a comprehensive review of p63 expression in different types of skin cancer and discuss its possible use in the diagnosis and prognosis of cutaneous tumours.

scholarly journals Non-Hodgkin lymphomas in childhood: How to move on?

2014 ◽  
Vol 142 (7-8) ◽  
pp. 498-504 ◽  
Author(s):  
Lidija Dokmanovic ◽  
Predrag Rodic ◽  
Nada Krstovski ◽  
Jelena Lazic ◽  
Dragana Janic
Keyword(s):  
Prognostic Markers ◽  
Large Cell ◽  
Treatment Regimens ◽  
Diagnosis And Prognosis ◽  
Dismal Prognosis ◽  
Genetic Features ◽  
Short And Long Term ◽  
Refractory Diseases

Non-Hodgkin lymphomas of childhood represent a diverse group of neoplasms with different clinical, pathological, immunophenotypical and genetic features. A vast majority of childhood non-Hodgkin lymphomas could be classified into one of the three major histological subgroups: mature B-cell neoplasms, lymphoblastic lymphomas or anaplastic large cell lymphomas. Modern therapeutic strategies lead to cure in more than 80% of patients. Conversely, refractory diseases, as well as disease relapse convey a dismal prognosis. This fact requires much better stratification based on prognostic markers which would ideally recognize distinct groups of patients requiring different therapeutic regimens. Defining novel diagnostic and prognostic markers should improve diagnosis and prognosis as well as patient follow-up. It should also allow introduction of individually tailored treatment regimens in selected groups of patients with non-Hodgkin lymphomas, with the main goal of improving treatment results and decreasing short- and long-term complications.

scholarly journals Management of Pediatric Tumors With Vascular Extension

2022 ◽  
Vol 9 ◽  
Author(s):  
Mayara Caroline Amorim Fanelli ◽  
José Cícero Stocco Guilhen ◽  
Alexandre Alberto Barros Duarte ◽  
Fernanda Kelly Marques de Souza ◽  
Monica dos Santos Cypriano ◽  
...  
Keyword(s):  
Decision Making ◽  
Cardiac Arrest ◽  
Surgical Treatment ◽  
Wilms Tumor ◽  
Vena Cava ◽  
Surgical Strategy ◽  
Severe Bleeding ◽  
Pediatric Tumors ◽  
Cardiac Bypass ◽  
Upper Level

Background: Pediatric tumors can present with vascular extension to the inferior vena cava and right atrium, which impacts the surgical strategy and can be challenging during surgical treatment. Wilms tumor (WT) is the most common retroperitoneal tumor that can present with vascular extension, but also adrenal tumors, clear cell tumors from the kidney, and hepatoblastomas can present with this situation. Surgical aims include obtaining complete tumor resection without risk for patients, to avoid severe bleeding, cardiac arrest, and embolization, and to avoid cardiac bypass if possible.Objective: To describe and discuss the surgical strategies to deal with pediatric tumors with vascular extension and propose a protocol.Method: Retrospectivly review the experience of treating patients with vascular extension in a single institution, describing different scenarios and a decision making fluxogram based on the preoperative evaluation regarding the surgical techniques and the need for cardiac bypass that are adequate for each situation. Image studies are important to guide the surgical strategy. Depending on the quality of image available, computerized tomography (CT) or magnetic resonance imaging (MRI) can be enough to give the information needed for surgical decisions. Ultrasonography (US) with Doppler is helpful to confirm diagnosis and describes factors to guide the adequate surgical strategy, like the upper level extension and presence or absence of blood flow around the thrombus. Neoadjuvant chemotherapy is indicated in most cases, in order to reduce the upper level of extension (and avoid the need for cardiac bypass) and to lower the risk of embolization. The approach is based on the upper level of the thrombus and can include cavotomy or cavectomy, sometimes with cardiac bypass and cardiac arrest with hypothermia, when the thrombus reaches the diaphragmatic level or above. Pathology analysis of the thrombus can guide staging and the need for radiotherapy postoperatively.Results: A decision making fluxogram protocol is presented focusing on the surgical treatment of such condition.Conclusion: Surgery strategy is highly impacted by the presence of vascular extension in pediatric tumors. Surgeons should be aware of potential complications and how to prevent them. Such cases should be treated in reference centers.

scholarly journals Systematic profiling of alternative splicing signature reveals prognostic predictor for cervical cancer

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Yue-Xin Hu ◽  
Ming-Jun Zheng ◽  
Wen-Chao Zhang ◽  
Xiao Li ◽  
Rui Gou ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Alternative Splicing ◽  
Prognostic Markers ◽  
Univariate Analysis ◽  
Enrichment Analysis ◽  
High Morbidity ◽  
Diagnosis And Prognosis ◽  
Different Types ◽  
Genome Level ◽  
Prediction Of Prognosis

Abstract Aim Cervical cancer is a common malignant carcinoma of the gynecological tract with high morbidity and mortality. Therefore, it is crucial to elucidate the pathogenesis, prevention, diagnosis and prognosis of cervical cancer by searching for the involved key genes. Method In this study, the alternative splicing (AS) events of 253 patients with cervical cancer were analyzed, and 41,766 AS events were detected in 9961 genes. Univariate analysis was performed to screen prognostic AS events. Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis was used to identify the pathways in which these AS events were involved. Results We found that exon skip (ES) is the main AS event in patients with cervical cancer. There was pronounced consistency between the genes involved in overall survival and those involved in recurrence. At the same time, we found that a gene may exhibit several different types of AS events, and these different AS events may be related to prognosis. Four characteristic genes, HSPA14, SDHAF2, CAMKK2 and TM9SF1, that can be used as prognostic markers for cervical cancer were selected. Conclusion: The importance of AS events in the development of cervical cancer and prediction of prognosis was revealed by a large amount of data at the whole genome level, which may provide a potential target for cervical cancer treatment. We also provide a new method for exploring the pathogenesis of cervical cancer to determine clinical treatment and prognosis more accurately.

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