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Li-Fraumeni

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https://www.readbyqxmd.com/read/29620582/radiation-associated-angiosarcoma-mimicking-fallopian-tube-high-grade-serous-carcinoma-in-a-woman-with-de-novo-li-fraumeni-syndrome
#1
Sarah M Crafton, Leigha Senter-Jamieson, James L Chen, Larry J Copeland, Adrian A Suarez
We present a case study of a woman with history of rectal adenocarcinoma, and a new diagnosis of radiation-associated angiosarcoma mimicking fallopian tube high-grade serous carcinoma who was subsequently found to have de novo Li-Fraumeni syndrome. Our objective is to highlight angiosarcoma as a potential pitfall in the diagnosis of high-grade serous carcinoma.
April 3, 2018: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/29602769/whole-exome-sequencing-identifies-germline-mutation-in-tp53-and-atrx-in-a-child-with-ge-nomically-aberrant-at-rt-and-her-mother-with-anaplastic-astrocytoma
#2
Kristiina Nordfors, Joonas Haapasalo, Ebrahim Afyounian, Joonas Tuominen, Matti Annala, Sergei Hayrynen, Ritva Karhu, Pauli Helen, Olli Lohi, Matti Nykter, Hannu Haapasalo, Kirsi Granberg
Brain tumors typically arise sporadically and do not affect several family members simultaneously. In the present study, we describe clinical and genetic data from two patients, a mother and her daughter, with familial brain tumors. Exome sequencing revealed a germline missense mutation in the TP53 and ATRX genes in both cases, and a somatic copy-neutral loss of heterozygosity (LOH) in TP53 in both atypical teratoid/rhabdoid tumor (AT/RT) and astrocytoma tumors. ATRX mutation was associated with the loss of ATRX protein expression...
March 30, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29594232/increasing-genomic-instability-during-cancer-therapy-in-a-patient-with-li-fraumeni-syndrome
#3
Nadine Schuler, Jan Palm, Sabine Schmitz, Yvonne Lorat, Claudia E Rübe
Background: Li-Fraumeni syndrome (LFS) is a cancer predisposition disorder characterized by germline mutations of the p53 tumor-suppressor gene. In response to DNA damage, p53 stimulates protective cellular processes including cell-cycle arrest and apoptosis to prevent aberrant cell proliferation. Current cancer therapies involve agents that damage DNA, which also affect non-cancerous hematopoietic stem/progenitor cells. Here, we report on a child with LFS who developed genomic instability during craniospinal irradiation for metastatic choroid plexus carcinoma (CPC)...
December 2017: Clinical and Translational Radiation Oncology
https://www.readbyqxmd.com/read/29581140/transmission-of-a-tp53-germline-mutation-from-unaffected-male-carrier-associated-with-pediatric-glioblastoma-in-his-child-and-gestational-choriocarcinoma-in-his-female-partner
#4
Jennifer A Cotter, Linda Szymanski, Catherine Karimov, Lara Boghossian, Ashley Margol, Girish Dhall, Benita Tamrazi, G Isaac Varaprasathan, David M Parham, Alexander R Judkins, Jaclyn A Biegel
Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome caused by germline alterations in the tumor suppressor gene TP53. LFS is associated with numerous malignancies including astrocytoma. Sanger sequencing and chromosomal microarray studies of blood and tumor tissue from a 4-year-old boy with glioblastoma demonstrated a germline TP53 mutation with loss of heterozygosity for the short arm of chromosome 17 as the second inactivating event in the tumor. There was no family history of LFS, but the child's mother had recently died from metastatic choriocarcinoma after antecedent normal term delivery of a then 6-month-old daughter...
March 26, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29572430/rlip-depletion-prevents-spontaneous-neoplasia-in-tp53-null-mice
#5
Sanjay Awasthi, Joshua Tompkins, Jyotsana Singhal, Arthur D Riggs, Sushma Yadav, Xiwei Wu, Sharda Singh, Charles Warden, Zheng Liu, Jinhui Wang, Thomas P Slavin, Jeffrey N Weitzel, Yate-Ching Yuan, Meenakshi Awasthi, Satish K Srivastava, Yogesh C Awasthi, Sharad S Singhal
TP53 (p53) is a tumor suppressor whose functions are lost or altered in most malignancies. p53 homozygous knockout (p53-/- ) mice uniformly die of spontaneous malignancy, typically T-cell lymphoma. RALBP1 (RLIP76, Rlip) is a stress-protective, mercapturic acid pathway transporter protein that also functions as a Ral effector involved in clathrin-dependent endocytosis. In stark contrast to p53-/- mice, Rlip-/- mice are highly resistant to carcinogenesis. We report here that partial Rlip deficiency induced by weekly administration of an Rlip-specific phosphorothioate antisense oligonucleotide, R508, strongly inhibited spontaneous as well as benzo( a )pyrene-induced carcinogenesis in p53-/- mice...
March 23, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29564828/genes-proteins-and-biological-pathways-preventing-chromothripsis
#6
Martin Poot
The highly complex structural genome variations chromothripsis, chromoanasynthesis, and chromoplexy are subsumed under the term chromoanagenesis, which means chromosome rebirth. Precipitated by numerous DNA double-strand breaks, they differ in number of and distances between breakpoints, associated copy number variations, order and orientation of segments, and flanking sequences at joining points. Results from patients with the autosomal dominant cancer susceptibility disorder Li-Fraumeni syndrome implicated somatic TP53 mutations in chromothripsis...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29541566/surgical-interventions-for-advanced-parameningeal-rhabdomyosarcoma-of-children-and-adolescents
#7
REVIEW
Paul J Choi, Joe Iwanaga, R Shane Tubbs, Emre Yilmaz
Owing to its rarity, rhabdomyosarcoma of the head and neck (HNRMS) has seldom been discussed in the literature. As most of the data is based only on the retrospective experiences of tertiary healthcare centers, there are difficulties in formulating a standard treatment protocol. Moreover, the disease is poorly understood at its pathological, genetic, and molecular levels. For instance, 20% of all histological assessment is inaccurate; even an experienced pathologist can confuse rhabdomyosarcoma (RMS) with neuroblastoma, Ewing's sarcoma, and lymphoma...
January 9, 2018: Curēus
https://www.readbyqxmd.com/read/29535250/please-test-my-child-for-a-cancer-gene-but-don-t-tell-her
#8
Johan Bester, Maya Sabatello, Clara D M van Karnebeek, John D Lantos
A 38-year-old woman is diagnosed with Li-Fraumeni syndrome, an autosomal dominant genetic condition that predisposes to a variety of cancers. The woman has an 11-year-old daughter. The geneticist recommends that the child be tested for the Li-Fraumeni genetic variant. The mother is concerned about the impact of testing and diagnosis on Karen's psychological well-being. She describes Karen as "highly strung" and as "a worrier." The child has been diagnosed with an anxiety disorder and is managed by a psychologist for counseling...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29529297/differences-in-tp53-mutation-carrier-phenotypes-emerge-from-panel-based-testing
#9
Huma Q Rana, Rebecca Gelman, Holly LaDuca, Rachel McFarland, Emily Dalton, Jennifer Thompson, Virginia Speare, Jill S Dolinsky, Elizabeth C Chao, Judy E Garber
Background: Li-Fraumeni syndrome (LFS) has traditionally been identified by single-gene testing (SGT) of TP53 triggered by clinical criteria, but the widespread use of multigene panel tests (MGPTs) has upended this paradigm. We sought to compare the personal and family cancer histories of TP53-positive result (TP53+) carriers who were identified by either MGPT or SGT. Methods: Of 44 310 individuals who underwent testing of TP53 in a single clinical diagnostic laboratory between 2010 and 2014, 44 086 (40 885 MGPT and 3201 SGT) met study eligibility criteria...
February 26, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29478614/brain-cancer-genomics-and-epigenomics
#10
Tenley C Archer, Soma Sengupta, Scott L Pomeroy
Classically, brain cancers have been graded and diagnosed based on histology and risk stratified by clinical criteria. Recent advances in genomics and epigenomics have ushered in an era of defining cancers based on molecular criteria. These advances have increased our precision of identifying oncogenic driving events and, most importantly, increased our precision at predicting clinical outcome. For the first time in its history, the 2016 revision of the WHO Classification of Tumors of the Central Nervous System included molecular features as tumor classification criteria...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29416929/a-novel-dysfunctional-germline-p53-mutation-identified-in-a-family-with-li-fraumeni-syndrome
#11
Min Ji, Lin Wang, Yuguo Shao, Wei Cao, Ting Xu, Shujie Chen, Zhiwei Wang, Qi He, Kuo Yang
Li-Fraumeni Syndrome (LFS), which is a rare dominantly inherited cancer predisposition syndrome, is associated with germline P53 mutations. Mutations of the tumor suppressor protein P53 are associated with more than 50% of human cancers; however, almost 30% of P53 mutations occur rarely and this has raised questions about their significance. It therefore appeared of particular interest that we identified a novel mutation in a patient suffering from breast cancer and fulfilling the diagnostic criteria of LFS...
2018: American Journal of Cancer Research
https://www.readbyqxmd.com/read/29406000/neonatal-cushing-syndrome-a-rare-but-potentially-devastating-disease
#12
REVIEW
Christina Tatsi, Constantine A Stratakis
Neonatal Cushing syndrome (CS) is most commonly caused by exogenous administration of glucocorticoids and rarely by endogenous hypercortisolemia. CS owing to adrenal lesions is the most common cause of endogenous CS in neonates and infants, and adrenocortical tumors (ACTs) represent most cases. Many ACTs develop in the context of a TP53 gene mutation, which causes Li-Fraumeni syndrome. More rarely, neonatal CS presents as part of other syndromes such as McCune-Albright syndrome or Beckwith-Wiedemann syndrome...
March 2018: Clinics in Perinatology
https://www.readbyqxmd.com/read/29392648/the-first-two-confirmed-sub-saharan-african-families-with-germline-tp53-mutations-causing-li-fraumeni-syndrome
#13
Shelley Macaulay, Quintin Clive Goodyear, Mia Kruger, Wenlong Chen, Fahmida Essop, Amanda Krause
Li-Fraumeni syndrome is a rare inherited cancer syndrome characterised by the early onset of specific cancers. Li-Fraumeni syndrome (LFS) is associated with germline mutations in the tumour suppressor gene, TP53. This study reports the first cases of molecularly confirmed LFS germline mutations in sub-Saharan Africa. Three black African patients, all with LFS-associated cancers, were seen through the Clinical and Counselling Section of the Division of Human Genetics at the National Health Laboratory Service and University of the Witwatersrand in Johannesburg, South Africa, during 2011-2012...
February 1, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29370815/breast-implant-associated-anaplastic-large-cell-lymphoma-in-a-li-fraumeni-patient-a-case-report
#14
Ricardo Garcia Pastorello, Felipe D'Almeida Costa, Cynthia A B T Osório, Fabiana B A Makdissi, Stephania Martins Bezerra, Marina de Brot, Antonio Hugo J F M Campos, Fernando Augusto Soares, José Vassallo
BACKGROUND: Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare malignancy, recently recognized as a provisional entity by the World Health Organization. Although increasing data have been published on this entity in recent years, a great number of patients and health professionals remain unaware of this diagnosis. CASE PRESENTATION: We herein report the case of a 56-year-old female with Li-FRAUMENI syndrome who presented with late right-sided recurrent breast swelling after prophylactic adenomastectomy with implant reconstruction...
January 25, 2018: Diagnostic Pathology
https://www.readbyqxmd.com/read/29365323/prognostic-tumor-sequencing-panels-frequently-identify-germ-line-variants-associated-with-hereditary-hematopoietic-malignancies
#15
Michael W Drazer, Sabah Kadri, Madina Sukhanova, Sushant A Patil, Allison H West, Simone Feurstein, Dalein A Calderon, Matthew F Jones, Caroline M Weipert, Christopher K Daugherty, Adrián A Ceballos-López, Gordana Raca, Mark W Lingen, Zejuan Li, Jeremy P Segal, Jane E Churpek, Lucy A Godley
Next-generation sequencing (NGS)-based targeted gene capture panels are used to profile hematopoietic malignancies to guide prognostication and treatment decisions. Because these panels include genes associated with hereditary hematopoietic malignancies (HHMs), we hypothesized that these panels could identify pathogenic germ line variants in malignant cells, thereby identifying patients at risk for HHMs. In total, pathogenic or likely pathogenic variants in ANKRD26 , CEBPA , DDX41 , ETV6 , GATA2 , RUNX1 , or TP53 were identified in 74 (21%) of 360 patients...
January 23, 2018: Blood Advances
https://www.readbyqxmd.com/read/29340884/-i-would-like-to-discuss-it-further-with-an-expert-a-focus-group-study-of-finnish-adults-perspectives-on-genetic-secondary-findings
#16
M Vornanen, K Aktan-Collan, N Hallowell, H Konttinen, H Kääriäinen, A Haukkala
Lowered costs of genomic sequencing facilitate analyzing large segments of genetic data. Ethical debate has focused on whether and what kind of incidental or secondary findings (SFs) to report, and how to obtain valid informed consent. However, people's support needs after receiving SFs have received less attention. We explored Finnish adults' perspectives on reporting genetic SFs. In this qualitative study which included four focus group discussions (N = 23) we used four vignette letters, each reporting a genetic SF predisposing to a different disease: familial hypercholesterolemia, long QT syndrome, Lynch syndrome, and Li-Fraumeni syndrome...
January 16, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29324801/clinical-characteristics-and-registry-validated-extended-pedigrees-of-germline-tp53-mutation-carriers-in-denmark
#17
Ulrik Stoltze, Anne-Bine Skytte, Henriette Roed, Henrik Hasle, Bent Ejlertsen, Thomas van Overeem Hansen, Kjeld Schmiegelow, Anne-Marie Gerdes, Karin Wadt
INTRODUCTION: TP53 mutation carrier (Li-Fraumeni Syndrome, LFS) cohort studies often suffer from lack of extensive pedigree exploration. METHODS: We performed a nation-wide exploration of TP53 mutation carrier families identified through all clinical genetics departments in Denmark. Pedigrees were expanded and verified using unique national person identification, cancer, cause of death, pathology, and church registries. RESULTS: We identified 30 confirmed, six obligate and 14 assumed carriers in 15 families harboring 14 different mutations, including five novel and three de novo germline mutations...
2018: PloS One
https://www.readbyqxmd.com/read/29313943/pediatric-oncologist-willingness-to-offer-germline-tp53-testing-in-osteosarcoma
#18
Eliana Shaul, Michael Roth, Yungtai Lo, David S Geller, Bang Hoang, Rui Yang, David Malkin, Richard Gorlick, Jonathan Gill
BACKGROUND: Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by mutations in the tumor-suppressor gene TP53. Osteosarcoma is a sentinel cancer in LFS. Prior studies using Sanger sequencing platforms have demonstrated that 3% of individuals with osteosarcoma harbor a mutation in TP53. New data from next-generation sequencing have demonstrated that 3.8% of patients with osteosarcoma have a known pathogenic variant, and an additional 5.7% carry exonic variants of unknown significance in TP53...
March 15, 2018: Cancer
https://www.readbyqxmd.com/read/29309780/pancreatic-cancer-screening-in-high-risk-individuals-with-germline-genetic-mutations
#19
Tomas DaVee, Emmanuel Coronel, Charilaos Papafragkakis, Sayam Thaiudom, Gandhi Lanke, Raja C Chakinala, Graciela M Nogueras González, Manoop S Bhutani, William A Ross, Brian R Weston, Jeffrey H Lee
BACKGROUND AND AIMS: Pancreatic cancer (PC) is a deadly disease that is most commonly diagnosed at an incurable stage. Different high-risk genetic variants and cancer syndromes increase the lifetime risk of developing PC. This study aims to assess the yield of initial PC screening in patients with high-risk germline mutations. METHODS: Asymptomatic adults underwent PC screening by EUS, magnetic resonance imaging, or CT during a 10-year period and were retrospectively identified...
January 5, 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29300620/tp53-germline-variations-influence-the-predisposition-and-prognosis-of-b-cell-acute-lymphoblastic-leukemia-in-children
#20
Maoxiang Qian, Xueyuan Cao, Meenakshi Devidas, Wenjian Yang, Cheng Cheng, Yunfeng Dai, Andrew Carroll, Nyla A Heerema, Hui Zhang, Takaya Moriyama, Julie M Gastier-Foster, Heng Xu, Elizabeth Raetz, Eric Larsen, Naomi Winick, W Paul Bowman, Paul L Martin, Elaine R Mardis, Robert Fulton, Gerard Zambetti, Michael Borowitz, Brent Wood, Kim E Nichols, William L Carroll, Ching-Hon Pui, Charles G Mullighan, William E Evans, Stephen P Hunger, Mary V Relling, Mignon L Loh, Jun J Yang
Purpose Germline TP53 variation is the genetic basis of Li-Fraumeni syndrome, a highly penetrant cancer predisposition condition. Recent reports of germline TP53 variants in childhood hypodiploid acute lymphoblastic leukemia (ALL) suggest that this type of leukemia is another manifestation of Li-Fraumeni syndrome; however, the pattern, prevalence, and clinical relevance of TP53 variants in childhood ALL remain unknown. Patients and Methods Targeted sequencing of TP53 coding regions was performed in 3,801 children from the Children's Oncology Group frontline ALL clinical trials, AALL0232 and P9900...
February 20, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
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