RESEARCH PAPER ANALYSIS
Pediatric and Adolescent Gynecological Tumors and Associated Predisposition Syndromes.
AI interpretation is pending for this paper.
Open original publication →EXECUTIVE SUMMARY
What the AI sees
Not AI summarized yet.
WHY IT MATTERS
Research significance
Pending deeper interpretation.
ABSTRACT
Source abstract
There are well-known associations between various types of adult-onset gynecological cancers and tumor predisposition syndromes, but less is known about gynecological tumor predisposition syndromes in the pediatric and adolescent population. With advancing genetic technology and more extensive testing, we have come to learn that ∼10%-20%, if not more, of benign and malignant pediatric neoplasms result from a germline variant in a tumor predisposition gene. Gynecological neoplasms found in this population can be inherited, but they can also arise from a de novo gene variant. So too, some syndromes display incomplete penetrance, so not all affected family members will present with disease, and most of these syndromes show variable expressivity such that affected family members can present differently, which can potentially disguise a familial syndrome. Herein, we review what is known about the predisposition syndromes associated with gynecological neoplasms arising in infancy through young adulthood and emphasize the importance of a genetic work-up even in the absence of a recognizable family history. Identification of germline variants allow for appropriate long-term tumor surveillance, as well as genetic counseling and targeted gene variant testing for other family members who may also be at risk and benefit from tumor surveillance.
SUPPORTING PAPER SET
32 more papers to review
1
Biomarker-Negative and MIBG-Negative Neuroblastoma Presenting as an Indeterminate Retroperitoneal Mass in a Young Child.
Pediatrics international : official journal of the Japan Pediatric Society
29.85
2
Hypophosphatemic rickets in children: current knowledge and a proposal for a diagnostic algorithm.
Endokrynologia Polska
58.0
3
Effectiveness of the "Golden Hour" program in preventing sepsis in pediatric patients with acute lymphoblastic leukemia.
Boletin medico del Hospital Infantil de Mexico
65.0
4
Clinical validation of the nursing diagnosis of inadequate nutritional intake in children with cancer.
International journal of nursing knowledge
67.6
5
Exploratory Analysis of the Inhibitory Effects of Propranolol on NLRP3 and Pyrin Inflammasomes.
ACR open rheumatology
56.76
6
First-In-Human Evaluation of the Pharmacokinetics, Pharmacodynamics, and Safety of Tilpisertib Fosmecarbil (GS-5290), an Oral Prodrug of a Tumor Progression Locus 2 Inhibitor in Healthy Participants.
Journal of clinical pharmacology
84.72
7
Dyadic Latent Profiles of Sexual and Reproductive Distress in Young Adult Cancer Survivors and Their Partners: A Cross-Sectional Analysis.
Psycho-oncology
61.0
8
Disproportionality analysis of drug-induced myocarditis: Insights from the Food and Drug Administration Adverse Event Reporting System database.
The Journal of international medical research
63.68
9
Innovative Insights into Osteosarcoma: Unraveling the Role of LncRNAs, miRNAs, and CircRNAs in Tumorigenesis and Therapeutic Resistance.
Current gene therapy
63.84
10
Targeting Metal-Dependent Cell Death in Cancer: From Molecular Circuitry to Biomarker-Guided Precision Combination Therapy.
Current cancer drug targets
70.99
11
Long-term outcomes of non-operative compared to operative management of acute uncomplicated appendicitis - a systematic review and meta-analysis.
American journal of surgery
72.5
12
What have I missed again: A qualitative study exploring parents of children with cancer's experiences of fear of missing out.
Journal of health psychology
54.0
13
Radiographic overestimation of inferior vena cava involvement in pediatric neuroblastoma: a case report.
Journal of surgical case reports
55.5
14
Global Burden and Temporal Trends of Brain and Central Nervous System Tumors in Children and Adolescents: A Systematic Analysis for the Global Burden of Disease Study 2021.
Cancer innovation
56.0
15
Refractory Hyperammonemic Encephalopathy as a Paraneoplastic Presentation of Fibrolamellar Hepatocellular Carcinoma: A Case Report.
The American journal of case reports
53.92
16
Modern management and multidisciplinary care of bladder prostate rhabdomyosarcoma.
Current opinion in pediatrics
62.8
17
Improving Dietary Data Quality in Nutrition Studies: Development and Validation of an Explainable, Reproducible, Open Machine Learning-Assisted Framework for Outlier Detection in 24-Hour Recalls.
American journal of epidemiology
61.5
18
Genetic Markers of Early Skeletal Muscle Loss in Adolescent and Young Adult Cancer Patients Treated with Anthracyclines.
Journal of adolescent and young adult oncology
65.5
19
Seen, Heard, and Still Missing: Understanding Clinical Trial Nonparticipation Among Women of Color.
Journal of adolescent and young adult oncology
74.5
20
Correction to "Health-Related Quality of Life in Chinese Children and Adolescents With Cancer: A Systematic Review and Meta-Analysis".
International journal of cancer
63.0
21
Evolution of robotic-assisted resection of pediatric neuroblastic tumors: a retrospective analysis.
Updates in surgery
61.5
22
Late cardiac effects of anthracycline-based therapy in childhood cancer survivors: a CMR study of cardiac strain and function.
Clinical research in cardiology : official journal of the German Cardiac Society
68.34
23
Biological reconstruction in the growing child after tumour resection: long-term outcomes of vascularized fibular epiphyseal transfer.
International orthopaedics
57.2
24
Neuroimaging findings of the hypothalamus and pituitary gland in children with growth hormone deficiency: a 25-year single-center retrospective study.
Hormones (Athens, Greece)
67.0
25
Ovarian Lymphoma and Bone Metastasis Presenting With Paraparesis in an Adolescent: A Case Report.
The American journal of case reports
51.9
26
Evaluating the impact of virtual oncology financial and legal navigation on cancer-related financial toxicity.
JNCI cancer spectrum
63.12
27
Pharmacogenetic variants in the molecular characterization initiative: a report from the children's oncology group.
Journal of the National Cancer Institute
65.4
28
Impact of Satisfactory Family Coping on the Mental Health of Parents Whose Children Died of Cancer.
Journal of pain and symptom management
59.5
29
Surgical approach to solid breast masses in girls.
Journal of pediatric and adolescent gynecology
58.4
30
Facial nerve schwannoma of the accessory parotid gland region in a child managed through a transoral approach.
BMJ case reports
56.0
31
Durvalumab and tremelimumab, with or without lenvatinib, combined with transarterial chemoembolisation in participants with embolisation-eligible hepatocellular carcinoma (EMERALD-3): a global, randomised, open-label, sponsor-blinded, phase 3 study.
The Lancet. Oncology
85.2
32
"This Is Loneliness, Helplessness, Desolation…": Exploring the Emotions and Emotion Regulation Experiences of Mothers of Children Diagnosed With Acute Lymphoblastic Leukemia.
Cancer nursing
58.5