scholarly journals Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)

2021 ◽  
Author(s):  
L. Guerrini-Rousseau ◽  
M. J. Smith ◽  
C. P. Kratz ◽  
B. Doergeloh ◽  
S. Hirsch ◽  
...  
Keyword(s):  
Working Group ◽  
Malignant Tumors ◽  
Brain Mri ◽  
Host Genome ◽  
Cancer Surveillance ◽  
Gorlin Syndrome ◽  
Causative Gene ◽  
Cancer Predisposition Syndrome ◽  
Evaluation Of Evidence ◽  
Tumor Types

AbstractGorlin syndrome (MIM 109,400), a cancer predisposition syndrome related to a constitutional pathogenic variation (PV) of a gene in the Sonic Hedgehog pathway (PTCH1 or SUFU), is associated with a broad spectrum of benign and malignant tumors. Basal cell carcinomas (BCC), odontogenic keratocysts and medulloblastomas are the main tumor types encountered, but meningiomas, ovarian or cardiac fibromas and sarcomas have also been described. The clinical features and tumor risks are different depending on the causative gene. Due to the rarity of this condition, there is little data on phenotype-genotype correlations. This report summarizes genotype-based recommendations for screening patients with PTCH1 and SUFU-related Gorlin syndrome, discussed during a workshop of the Host Genome Working Group of the European branch of the International Society of Pediatric Oncology (SIOPE HGWG) held in January 2020. In order to allow early detection of BCC, dermatologic examination should start at age 10 in PTCH1, and at age 20 in SUFU PV carriers. Odontogenic keratocyst screening, based on odontologic examination, should begin at age 2 with annual orthopantogram beginning around age 8 for PTCH1 PV carriers only. For medulloblastomas, repeated brain MRI from birth to 5 years should be proposed for SUFU PV carriers only. Brain MRI for meningiomas and pelvic ultrasound for ovarian fibromas should be offered to both PTCH1 and SUFU PV carriers. Follow-up of patients treated with radiotherapy should be prolonged and thorough because of the risk of secondary malignancies. Prospective evaluation of evidence of the effectiveness of these surveillance recommendations is required.

scholarly journals Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group

2021 ◽  
Author(s):  
M. C. Frühwald ◽  
K. Nemes ◽  
H. Boztug ◽  
M. C. A. Cornips ◽  
D. G. Evans ◽  
...  
Keyword(s):  
Working Group ◽  
Soft Part ◽  
Genetic Disorders ◽  
Panel Discussion ◽  
Rhabdoid Tumor ◽  
Host Genome ◽  
Cancer Surveillance ◽  
Malignant Neoplasms ◽  
Pathogenic Variants ◽  
Increased Risk

AbstractThe rhabdoid tumor (RT) predisposition syndromes 1 and 2 (RTPS1 and 2) are rare genetic conditions rendering young children vulnerable to an increased risk of RT, malignant neoplasms affecting the kidney, miscellaneous soft-part tissues, the liver and the central nervous system (Atypical Teratoid Rhabdoid Tumors, ATRT). Both, RTPS1&2 are due to pathogenic variants (PV) in genes encoding constituents of the BAF chromatin remodeling complex, i.e. SMARCB1 (RTPS1) and SMARCA4 (RTPS2). In contrast to other genetic disorders related to PVs in SMARCB1 and SMARCA4 such as Coffin-Siris Syndrome, RTPS1&2 are characterized by a predominance of truncating PVs, terminating transcription thus explaining a specific cancer risk. The penetrance of RTPS1 early in life is high and associated with a poor survival. However, few unaffected carriers may be encountered. Beyond RT, the tumor spectrum may be larger than initially suspected, and cancer surveillance offered to unaffected carriers (siblings or parents) and long-term survivors of RT is still a matter of discussion. RTPS2 exposes female carriers to an ill-defined risk of small cell carcinoma of the ovaries, hypercalcemic type (SCCOHT), which may appear in prepubertal females. RT surveillance protocols for these rare families have not been established. To address unresolved issues in the care of individuals with RTPS and to propose appropriate surveillance guidelines in childhood, the SIOPe Host Genome working group invited pediatric oncologists and geneticists to contribute to an expert meeting. The current manuscript summarizes conclusions of the panel discussion, including consented statements as well as non-evidence-based proposals for validation in the future.

scholarly journals The Role of Non-Coding RNAs in the Regulation of the Proto-Oncogene MYC in Different Types of Cancer

Biomedicines ◽  
2021 ◽  
Vol 9 (8) ◽  
pp. 921
Author(s):  
Ekaterina Mikhailovna Stasevich ◽  
Matvey Mikhailovich Murashko ◽  
Lyudmila Sergeevna Zinevich ◽  
Denis Eriksonovich Demin ◽  
Anton Markovich Schwartz
Keyword(s):  
Malignant Tumors ◽  
Current Data ◽  
Cellular Processes ◽  
Cell Divisions ◽  
Specific Tumor ◽  
Different Types ◽  
Myc Gene ◽  
Non Coding Rnas ◽  
Tumor Types

Alterations in the expression level of the MYC gene are often found in the cells of various malignant tumors. Overexpressed MYC has been shown to stimulate the main processes of oncogenesis: uncontrolled growth, unlimited cell divisions, avoidance of apoptosis and immune response, changes in cellular metabolism, genomic instability, metastasis, and angiogenesis. Thus, controlling the expression of MYC is considered as an approach for targeted cancer treatment. Since c-Myc is also a crucial regulator of many cellular processes in healthy cells, it is necessary to find ways for selective regulation of MYC expression in tumor cells. Many recent studies have demonstrated that non-coding RNAs play an important role in the regulation of the transcription and translation of this gene and some RNAs directly interact with the c-Myc protein, affecting its stability. In this review, we summarize current data on the regulation of MYC by various non-coding RNAs that can potentially be targeted in specific tumor types.

Epigenetic control of cell invasion – the trophoblast model

2012 ◽  
Vol 3 (6) ◽  
pp. 487-494 ◽  
Author(s):  
Alan Serman ◽  
Filip Simon ◽  
Dora Fabijanovic ◽  
Ljiljana Serman
Keyword(s):  
Tumor Suppressor Genes ◽  
Malignant Tumors ◽  
Control Mechanisms ◽  
Malignant Cells ◽  
Mesenchymal Phenotype ◽  
Tissue Invasion ◽  
Young Embryo ◽  
Specific Tumor ◽  
Tumor Types ◽  
Adhesion And Invasion

AbstractTrophoblast implantation and placentation allow the survival of the young embryo and its normal development inside the uterus. In order for these processes to function properly, the trophoblast has to undergo a series of characteristic changes that lead to its adhesion and invasion of the uterus. This is achieved, among other mechanisms, by inactivation of specific tumor suppressor genes, commonly by methylation of their promoters. Cell adhesion and tissue invasion are also characteristics of malignant tumors and patterns of methylation similar to that seen in trophoblast are found in various tumor types. Another important mechanism that aids trophoblast cells invasion is their transition from epithelial to mesenchymal phenotype. Such a transition is also a common characteristic of invading malignant cells. Thus, studying tissue invasion and its control mechanisms can benefit the understanding of both the trophoblast and malignant cells behavior.

scholarly journals Radiomics Models for the Preoperative Prediction of Pelvic and Sacral Tumor Types: A Single-Center Retrospective Study of 795 Cases

2021 ◽  
Vol 11 ◽  
Author(s):  
Ping Yin ◽  
Xin Zhi ◽  
Chao Sun ◽  
Sicong Wang ◽  
Xia Liu ◽  
...  
Keyword(s):  
Clinical Decision Making ◽  
Malignant Tumors ◽  
Characteristic Curve ◽  
Benign Tumors ◽  
Giant Cell Tumors ◽  
Neurogenic Tumors ◽  
Sacral Tumor ◽  
Sacral Tumors ◽  
Tumor Types ◽  
Class Models

PurposeTo assess the performance of random forest (RF)-based radiomics approaches based on 3D computed tomography (CT) and clinical features to predict the types of pelvic and sacral tumors.Materials and MethodsA total of 795 patients with pathologically confirmed pelvic and sacral tumors were analyzed, including metastatic tumors (n = 181), chordomas (n = 85), giant cell tumors (n =120), chondrosarcoma (n = 127), osteosarcoma (n = 106), neurogenic tumors (n = 95), and Ewing’s sarcoma (n = 81). After semi-automatic segmentation, 1316 hand-crafted radiomics features of each patient were extracted. Four radiomics models (RMs) and four clinical-RMs were built to identify these seven types of tumors. The area under the receiver operating characteristic curve (AUC) and accuracy (ACC) were used to evaluate different models.ResultsIn total, 795 patients (432 males, 363 females; mean age of 42.1 ± 17.8 years) were consisted of 215 benign tumors and 580 malignant tumors. The sex, age, history of malignancy and tumor location had significant differences between benign and malignant tumors (P < 0.05). For the two-class models, clinical-RM2 (AUC = 0.928, ACC = 0.877) performed better than clinical-RM1 (AUC = 0.899, ACC = 0.854). For the three-class models, the proposed clinical-RM3 achieved AUCs between 0.923 (for chordoma) and 0.964 (for sarcoma), while the AUCs of the clinical-RM4 ranged from 0.799 (for osteosarcoma) to 0.869 (for chondrosarcoma) in the validation set.ConclusionsThe RF-based clinical-radiomics models provided high discriminatory performance in predicting pelvic and sacral tumor types, which could be used for clinical decision-making.

scholarly journals Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group

2020 ◽  
Author(s):  
Simone Hettmer ◽  
Guillaume Dachy ◽  
Guido Seitz ◽  
Abbas Agaimy ◽  
Catriona Duncan ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Working Group ◽  
Host Genome ◽  
Infantile Myofibromatosis

Spontaneous neoplasms in zoo mammals, birds, and reptiles in Taiwan – a 10-year survey

2012 ◽  
Vol 62 (1) ◽  
pp. 95-110 ◽  
Author(s):  
Victor Fei Pang ◽  
Pen-Heng Chang ◽  
Fun-In Wang ◽  
Shih-Chien Chin ◽  
Chian-Ren Jeng ◽  
...  
Keyword(s):  
Malignant Tumors ◽  
Domestic Animals ◽  
Benign Tumors ◽  
Uterine Smooth Muscle ◽  
Predominant Type ◽  
Smooth Muscle Tumors ◽  
Reptile Species ◽  
Zoo Animals ◽  
Tumor Types

AbstractThe characteristics of 163 spontaneous neoplasms diagnosed in 150 necropsied zoo mammals, birds, and reptiles at Taipei Zoo during 1994-2003 were analyzed. Histopathology and immunohistochemistry were employed to classify the tumor types. A total of 2657 necropsied zoo animals, including 1335 mammals, 873 birds and 449 reptiles led to the diagnosis of tumor in 8.1% (108/1335), 4.2% (37/873) and 1.1% (5/449) of cases, respectively. The most predominant type of tumors in mammals was mammary gland tumors (12.0%, 13/108), followed by uterine smooth muscle tumors (10.2%, 11/108), lymphosarcoma (9.3%, 10/108), hepatocellular carcinoma (8.3%, 9/108), and cutaneous squamous cell carcinoma (6.5%, 7/108). The avian neoplasm with the highest incidence was lymphosarcoma (35.1%, 13/37). Five individual neoplasms were found in different reptile species. The overall incidence of malignant tumors (63.8%, 104/163) was greater than that of benign tumors (36.2%, 59/163). Immunohistochemistry characterization of these tumors revealed a histogenesis which is similar to that seen in domestic animals and humans.

scholarly journals Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci

2013 ◽  
Vol 161 (11) ◽  
pp. 2894-2901 ◽  
Author(s):  
Livia Garavelli ◽  
Maria Rosaria Piemontese ◽  
Alberto Cavazza ◽  
Simonetta Rosato ◽  
Anita Wischmeijer ◽  
...  
Keyword(s):  
Wilms Tumor ◽  
Gorlin Syndrome ◽  
Multiple Tumor ◽  
Tumor Types

scholarly journals Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency

2021 ◽  
Vol 12 ◽  
Author(s):  
Qi Tian ◽  
Yang Cao ◽  
Li Shu ◽  
Yongjun Chen ◽  
Ying Peng ◽  
...  
Keyword(s):  
Brain Mri ◽  
Genetic Diagnosis ◽  
Clinical Information ◽  
Molybdenum Cofactor ◽  
Compound Heterozygous ◽  
Causative Gene ◽  
Pathogenic Variants ◽  
First Case ◽  
Healthy Family ◽  
Compound Heterozygous Variants

Background: The molybdenum cofactor (Moco) deficiency in humans results in the inactivity of molybdenum-dependent enzymes and is caused by pathogenic variants in MOCS1 (Molybdenum cofactor synthesis 1), MOCS2 (Molybdenum cofactor synthesis 2), and GPHN (Gephyrin). These genes along with MOCS3 (Molybdenum cofactor synthesis 3) are involved in Moco biosynthesis and providing cofactors to Moco-dependent enzymes. Until now, there was no study to confirm that MOCS3 is a causative gene of Moco deficiency.Methods: Detailed clinical information was collected in the pedigree. The Whole-exome sequencing (WES) accompanied with Sanger sequencing validation were performed.Results: We described the clinical presentations of an infant, born to a non-consanguineous healthy family, diagnosed as having MOCS3 variants caused Moco deficiency and showing typical features of Moco deficiency including severe neurologic symptoms and cystic encephalomalacia in the brain MRI, resulting in neonatal death. Compound heterozygous variants in the MOCS3 gene were identified by WES. Positive sulfite and decreased levels of uric acid in plasma and urine were detected.Conclusion: To our knowledge, this is the first case of MOCS3 variants causing Moco deficiency. Our study may contribute to genetic diagnosis of Moco deficiency and future genetic counseling.

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