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[PMID]: 29237527
[Au] Autor:Xie Y; Zhao WH; Hua Y; Sun Q; Wu PH
[Ad] Address:Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. zhaowh3212@126.com.
[Ti] Title:[A rhabdomyosarcoma patient from a Li-Fraumeni syndrome family: a case report and literature review].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;19(12):1263-1266, 2017 Dec.
[Is] ISSN:1008-8830
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome, with the characteristics of early onset of cancer and high cancer incidence. TP53 is widely accepted as a pathogenic gene of LFS. A 2 years and 6 months old boy is reported in this article, who was diagnosed with embryonal rhabdomyosarcoma (RMS) in the left submandibular region. His brother died of RMS, and his grandmother was diagnosed with breast cancer. TP53 gene mutation detection was performed in this patient and some family members, indicating a missense mutation in exon 8 of the patient: c.844C>T (p.Arg282Trp, heterozygous). TP53 mutation was also found in his mother and sister. The boy met the diagnostic criteria for LFS. Among pediatric patients, the most common LFS diseases include osteosarcoma, adrenocortical cancer, central nervous system tumor, and soft tissue tumor. Additionally, leukemia and lymphoma are also involved. LFS patients have a high risk to suffer secondary or even multiple cancers. Therefore, it is necessary to perform genetic detection for pediatric cancer patients, especially those with hereditary predisposition cancers. TP53 mutation often indicates poor prognosis, so it is important to take active treatment and systematic monitoring for LFS family.
[Mh] MeSH terms primary: Li-Fraumeni Syndrome/genetics
Rhabdomyosarcoma/genetics
[Mh] MeSH terms secundary: Child, Preschool
Genes, p53
Humans
Male
Mutation
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[Js] Journal subset:IM
[Da] Date of entry for processing:171215
[St] Status:MEDLINE

  2 / 1107 MEDLINE  
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[PMID]: 29313943
[Au] Autor:Shaul E; Roth M; Lo Y; Geller DS; Hoang B; Yang R; Malkin D; Gorlick R; Gill J
[Ad] Address:Division of Pediatric Hematology/Oncology and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York.
[Ti] Title:Pediatric oncologist willingness to offer germline TP53 testing in osteosarcoma.
[So] Source:Cancer;124(6):1242-1250, 2018 Mar 15.
[Is] ISSN:1097-0142
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. METHODS: Pediatric oncologists were e-mailed an anonymous 18-question survey assessing their willingness to offer TP53 germline testing to a child with osteosarcoma with or without a family history, and they were evaluated for changes in their choices with the prior data and the new data. RESULTS: One hundred seventy-seven pediatric oncologists (22%) responded to the survey. Respondents were more likely to offer TP53 testing to a patient with a positive family history (77.4% vs 12.4%; P < .0001). Significantly more providers responded that they would offer TP53 testing once they were provided with the new data (25.4% vs 12.4%; P = .0038). The proportion of providers who responded that they were unsure increased significantly when they were presented with the new data (25.4% vs 10.2%; P = .0002). Potential implications for other family members and the possibility that surveillance imaging would detect new malignancies at an earlier stage were important factors influencing a provider's decision to offer TP53 testing. CONCLUSIONS: Recent data increase the proportion of providers willing to offer testing, and this suggests concern on the part of pediatric oncologists that variants of unknown significance may be disease-defining in rare cancers. Cancer 2018;124:1242-50. © 2018 American Cancer Society.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Data-Review
[do] DOI:10.1002/cncr.31212

  3 / 1107 MEDLINE  
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[PMID]: 29300620
[Au] Autor:Qian M; Cao X; Devidas M; Yang W; Cheng C; Dai Y; Carroll A; Heerema NA; Zhang H; Moriyama T; Gastier-Foster JM; Xu H; Raetz E; Larsen E; Winick N; Bowman WP; Martin PL; Mardis ER; Fulton R; Zambetti G; Borowitz M; Wood B; Nichols KE; Carroll WL; Pui CH; Mullighan CG; Evans WE; Hunger SP; Relling MV; Loh ML; Yang JJ
[Ad] Address:Maoxiang Qian, Xueyuan Cao, Wenjian Yang, Cheng Cheng, Hui Zhang, Takaya Moriyama, Gerard Zambetti, Kim E. Nichols, Ching-Hon Pui, Charles G. Mullighan, William E. Evans, Mary V. Relling, and Jun J. Yang, St Jude Children's Research Hospital, Memphis, TN; Meenakshi Devidas and Yunfeng Dai, Universit
[Ti] Title:TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children.
[So] Source:J Clin Oncol;36(6):591-599, 2018 Feb 20.
[Is] ISSN:1527-7755
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. TP53 variant pathogenicity was evaluated according to experimentally determined transcriptional activity, in silico prediction of damaging effects, and prevalence in non-ALL control populations. TP53 variants were analyzed for their association with ALL presenting features and treatment outcomes. Results We identified 49 unique nonsilent rare TP53 coding variants in 77 (2.0%) of 3,801 patients sequenced, of which 22 variants were classified as pathogenic. TP53 pathogenic variants were significantly over-represented in ALL compared with non-ALL controls (odds ratio, 5.2; P < .001). Children with TP53 pathogenic variants were significantly older at ALL diagnosis (median age, 15.5 years v 7.3 years; P < .001) and were more likely to have hypodiploid ALL (65.4% v 1.2%; P < .001). Carrying germline TP53 pathogenic variants was associated with inferior event-free survival and overall survival (hazard ratio, 4.2 and 3.9; P < .001 and .001, respectively). In particular, children with TP53 pathogenic variants were at a dramatically higher risk of second cancers than those without pathogenic variants, with 5-year cumulative incidence of 25.1% and 0.7% ( P < .001), respectively. Conclusion Loss-of-function germline TP53 variants predispose children to ALL and to adverse treatment outcomes with ALL therapy, particularly the risk of second malignant neoplasms.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:In-Data-Review
[do] DOI:10.1200/JCO.2017.75.5215

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[PMID]: 29478614
[Au] Autor:Archer TC; Sengupta S; Pomeroy SL
[Ad] Address:Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States; Broad Institute of Harvard and MIT, Cambridge, MA, United States.
[Ti] Title:Brain cancer genomics and epigenomics.
[So] Source:Handb Clin Neurol;148:785-797, 2018.
[Is] ISSN:0072-9752
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract: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. Brain tumors can develop in the context of genetic cancer predisposition syndromes, such as Li-Fraumeni or Gorlin syndrome, but by far most commonly arise through the acquisition of somatic mutations and chromosome changes in the malignant cells. By taking a survey across this cancer landscape, certain themes emerge as being common events to drive cancer: DNA damage repair, genomic instability, mechanistic target of rapamycin pathway, sonic hedgehog pathway, hypoxia, and epigenetic dysfunction. Understanding these mechanisms is of paramount importance for improving targeted therapies, and for identifying the right patients for those therapies.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:In-Process

  5 / 1107 MEDLINE  
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[PMID]: 29406000
[Au] Autor:Tatsi C; Stratakis CA
[Ad] Address:Section on Endocrinology and Genetics, Developmental Endocrine Oncology and Genetics Group, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, MD 20892, USA; Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, MD 20892, USA.
[Ti] Title:Neonatal Cushing Syndrome: A Rare but Potentially Devastating Disease.
[So] Source:Clin Perinatol;45(1):103-118, 2018 Mar.
[Is] ISSN:1557-9840
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Management usually includes resection of the primary tumor with or without additional medical treatment, but manifestations may persist after resolution of hypercortisolemia.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[St] Status:In-Data-Review

  6 / 1107 MEDLINE  
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Soares, Fernando Augusto
Vassallo, José
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[PMID]: 29370815
[Au] Autor:Pastorello RG; D'Almeida Costa F; Osório CABT; Makdissi FBA; Bezerra SM; de Brot M; Campos AHJFM; Soares FA; Vassallo J
[Ad] Address:Department of Anatomic Pathology, A.C. Camargo Cancer Center, 211 Professor Antônio Prudente Street, Sao Paulo, Zip code 01509-900, Brazil. ricardopastorello@hotmail.com.
[Ti] Title:Breast implant-associated anaplastic large cell lymphoma in a Li-FRAUMENI patient: a case report.
[So] Source:Diagn Pathol;13(1):10, 2018 Jan 25.
[Is] ISSN:1746-1596
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. Imaging scans revealed an heterogeneous mass adjacent to the implant fibrous capsule. A biopsy of the lesion rendered the diagnosis of a BIA-ALCL. CONCLUSIONS: This case presents similarities with previous reports, but also some particularities, which should be stressed in order to make the diagnosis the earliest possible. The most distinct feature is that this is the second report of BIA-ALCL arising in the setting of Li-FRAUMENI syndrome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Process
[do] DOI:10.1186/s13000-018-0688-x

  7 / 1107 MEDLINE  
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[PMID]: 29189820
[Au] Autor:Weitzel JN; Chao EC; Nehoray B; Van Tongeren LR; LaDuca H; Blazer KR; Slavin T; Facmg DABMD; Pesaran T; Rybak C; Solomon I; Niell-Swiller M; Dolinsky JS; Castillo D; Elliott A; Gau CL; Speare V; Jasperson K
[Ad] Address:Division of Clinical Cancer Genomics, City of Hope, Duarte, California, USA.
[Ti] Title:Somatic TP53 variants frequently confound germ-line testing results.
[So] Source:Genet Med;, 2017 Nov 30.
[Is] ISSN:1530-0366
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PurposeBlood/saliva DNA is thought to represent the germ line in genetic cancer-risk assessment. Cases with pathogenic TP53 variants detected by multigene panel testing are often discordant with Li-Fraumeni syndrome, raising concern about misinterpretation of acquired aberrant clonal expansions (ACEs) with TP53 variants as germ-line results.MethodsPathogenic TP53 variants with abnormal next-generation sequencing metrics (e.g., decreased ratio (<25%) of mutant to wild-type allele, more than two detected alleles) were selected from a CLIA laboratory testing cohort. Alternate tissues and/or close relatives were tested to distinguish between ACE and germ-line status. Clinical data and Li-Fraumeni syndrome testing criteria were examined.ResultsAmong 114,630 multigene panel tests and 1,454 TP53 gene-specific analyses, abnormal next-generation sequencing metrics were observed in 20% of 353 TP53-positive results, and ACE was confirmed for 91% of cases with ancillary materials, most of these due to clonal hematopoiesis. Only four met Chompret criteria. Individuals with ACE were older (50 years vs. 33.7; P = 0.02) and were identified more frequently in multigene panel tests (66/285; 23.2%) than in TP53 gene-specific tests (6/68; 8.8%, P = 0.005).ConclusionACE confounds germ-line diagnosis, may portend hematologic malignancy, and may provoke unwarranted clinical interventions. Ancillary testing to confirm germ-line status should precede Li-Fraumeni syndrome management.GENETICS in MEDICINE advance online publication, 30 November 2017; doi:10.1038/gim.2017.196.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180206
[Lr] Last revision date:180206
[St] Status:Publisher
[do] DOI:10.1038/gim.2017.196

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[PMID]: 29365323
[Au] Autor:Drazer MW; Kadri S; Sukhanova M; Patil SA; West AH; Feurstein S; Calderon DA; Jones MF; Weipert CM; Daugherty CK; Ceballos-López AA; Raca G; Lingen MW; Li Z; Segal JP; Churpek JE; Godley LA
[Ad] Address:Section of Hematology/Oncology, Department of Medicine, The University of Chicago Comprehensive Cancer Center.
[Ti] Title:Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies.
[So] Source:Blood Adv;2(2):146-150, 2018 Jan 23.
[Is] ISSN:2473-9537
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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 , , , , , , or were identified in 74 (21%) of 360 patients. Germ line tissue was available for 24 patients with 25 pathogenic or likely pathogenic variants with variant allele frequencies >0.4. Six (24%) of these 25 variants were of germ line origin. Three variants, 2 variants, and a variant previously implicated in Li-Fraumeni syndrome were of germ line origin. No likely pathogenic/pathogenic germ line variants possessed variant allele frequencies <0.4. This study demonstrates that NGS-based prognostic panels may identify individuals at risk for HHMs despite not being designed for this purpose. Furthermore, variants known to cause Li-Fraumeni syndrome as well as known pathogenic variants in genes such as and are especially likely to be of germ line origin. Thus, tumor-based panels may augment, but should not replace, comprehensive germ line-based testing and counseling.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180204
[Lr] Last revision date:180204
[St] Status:In-Data-Review
[do] DOI:10.1182/bloodadvances.2017013037

  9 / 1107 MEDLINE  
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[PMID]: 29392648
[Au] Autor:Macaulay S; Goodyear QC; Kruger M; Chen W; Essop F; Krause A
[Ad] Address:Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. shelley.macaulay@nhls.ac.za.
[Ti] Title:The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome.
[So] Source:Fam Cancer;, 2018 Feb 01.
[Is] ISSN:1573-7292
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract: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. All three patients (two were related) were recruited into this research study. Sequence analysis of the coding region of the TP53 gene identified a Class IV (likely pathogenic) variant, c.326T > C (p.Phe109Ser), in the two related patients, and a known pathogenic mutation, c.1010G > A (p.Arg337His), also referred to as the Brazilian founder mutation, in the other patient. A confirmed diagnosis in these patients will assist in tailored medical management (it is recommended that individuals carrying a germline TP53 mutation avoid radiotherapy as this might cause secondary radiotherapy-induced malignancies) and in addition, genetic testing of at-risk family members can be offered. Very little is known and documented on LFS in African individuals. Despite the small number of patients in this study, the results support the need for diagnostic genetic testing for LFS in South Africa.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180202
[Lr] Last revision date:180202
[St] Status:Publisher
[do] DOI:10.1007/s10689-018-0075-5

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[PMID]: 29324801
[Au] Autor:Stoltze U; Skytte AB; Roed H; Hasle H; Ejlertsen B; Overeem Hansen TV; Schmiegelow K; Gerdes AM; Wadt K
[Ad] Address:Clinical Genetics Dept., Rigshospitalet, Copenhagen, Denmark.
[Ti] Title:Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.
[So] Source:PLoS One;13(1):e0190050, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. All but two (96%) developed cancer by age 54 years [mean debut age; 29.1 y., median 33.0 y., n = 26 (17F, 9M), range 1-54 y]]. Cancer was the primary cause of all deaths [average age at death; 34.5 years]. Two tumors were identified through registry data alone. Two independent families harbored novel c.80delC mutations shown to be related through an ancestor born in 1907. This exhaustive national collection yielded markedly fewer TP53 mutation carriers than the 300-1,100 expected based on estimated background population frequencies. CONCLUSION: Germline TP53 mutations in Denmark are likely to be drastically underdiagnosed despite their severe phenotype. Following recent advances in surveillance options of LFS patients, lack of pre-symptomatic testing may lead to the mismanagement of some individuals.
[Mh] MeSH terms primary: Genes, p53
Germ-Line Mutation
Pedigree
Registries
[Mh] MeSH terms secundary: Adolescent
Adult
Child
Child, Preschool
Denmark
Female
Humans
Infant
Male
Middle Aged
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1801
[Cu] Class update date: 180129
[Lr] Last revision date:180129
[Js] Journal subset:IM
[Da] Date of entry for processing:180112
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190050


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