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Li-Fraumeni

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https://www.readbyqxmd.com/read/28218344/familial-melanoma-associated-with-li-fraumeni-syndrome-and-atypical-mole-syndrome-total-body-digital-photography-dermoscopy-and-confocal-microscopy
#1
Priscila Giavedoni, Marnie Ririe, Cristina Carrera, Susana Puig, Josep Malvehy
Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder caused by a mutation in the p53 gene. Melanoma is considered to be a rare, controversial component of LFS. The aim of this study is to describe the utility of systematic screening for melanoma in patients with LFS and atypical mole syndrome. Two 28-year-old identical twin sisters with LFS and atypical moles were monitored by physical examination, total-body digital photography and dermoscopy be-tween 2006 and 2014. A total of 117, predominantly dark-brown, reticular naevi were identified on case 1 and 105 on case 2...
February 20, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28177947/association-of-li-fraumeni-syndrome-with-small-cell-carcinoma-of-the-ovary-hypercalcemic-type-and-concurrent-pleomorphic-liposarcoma-of-the-cervix
#2
Bevan Tandon, Ian S Hagemann, Horacio M Maluf, John D Pfeifer, Hussam Al-Kateb
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a rare, highly lethal malignancy predominantly affecting young adult females. We report a patient with widely metastatic SCCOHT and concurrent uterine cervical pleomorphic liposarcoma. Clinical targeted next-generation sequencing was performed on both neoplasms and demonstrated hemizygous stop-gain TP53 mutations (p.R196*), and wild-type SMARCA4 in both tumors. Microarray analyses of both tumors revealed similar but not identical widespread loss of heterozygosity over most chromosomes associated with loss of chromosomal copy number in the SCCOHT and pleomorphic liposarcoma tumors, amplification of FGFR1 in both tumors, and amplification of MYC in the SCCOHT...
February 7, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28160093/pleomorphic-myxoid-liposarcoma-in-an-adolescent-with-li-fraumeni-syndrome
#3
Tiffany J Sinclair, Chad M Thorson, Elysia Alvarez, Serena Tan, Sheri L Spunt, Stephanie D Chao
We present the case of a 15-year-old female with a right perineal mass that was found to be pleomorphic myxoid liposarcoma, a recently recognized, rare subtype of liposarcoma. The patient had a strong family history of malignancy and genetic screening revealed a pathogenic TP53 mutation consistent with Li-Fraumeni syndrome.
February 3, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28154273/the-features-of-colorectal-tumors-in-a-patient-with-li-fraumeni-syndrome
#4
Tsukasa Yoshida, Masahiro Tajika, Tsutomu Tanaka, Makoto Ishihara, Yutaka Hirayama, Nobumasa Mizuno, Kazuo Hara, Susumu Hijioka, Hiroshi Imaoka, Nobuhiro Hieda, Nozomi Okuno, Takashi Kinoshita, Vikram Bhatia, Yasuhiro Shimizu, Yasushi Yatabe, Kenji Yamao, Yasumasa Niwa
A young woman with Li-Fraumeni syndrome (LFS) was referred to our hospital. On examination, multiple flat neoplasms were detected in addition to semi-pedunculated polyps. Restorative proctocolectomy was performed; one submucosal invasive cancer, two mucosal cancers, and several adenomas with high-grade dysplasia were detected. On immunohistochemical staining with p53, every part of all neoplasms, even the small adenomas, showed strong positive staining. Multiple flat neoplasms may be characteristic of patients with LFS and may have a much higher risk of rapid progression to invasive carcinomas than sporadic neoplasms...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28137790/estimating-tp53-mutation-carrier-probability-in-families-with-li-fraumeni-syndrome-using-lfspro
#5
Gang Peng, Jasmina Bojadzieva, Mandy L Ballinger, Jialu Li, Amanda L Blackford, Phuong L Mai, Sharon A Savage, David M Thomas, Louise C Strong, Wenyi Wang
BACKGROUND: Li-Fraumeni syndrome (LFS) is associated with germline TP53 mutations and a very high lifetime cancer risk. Algorithms that assess a patient's risk of inherited cancer predisposition are often used in clinical counseling. The existing LFS criteria have limitations, suggesting the need for an advanced prediction tool to support clinical decision making for TP53 mutation testing and LFS management. METHODS: Based on a Mendelian model, LFSPRO estimates TP53 mutation probability through the Elston-Stewart algorithm, and consequently estimates future risk of cancer...
January 30, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28124295/psychosocial-morbidity-in-tp53-mutation-carriers-is-whole-body-cancer-screening-beneficial
#6
Kate A McBride, Mandy L Ballinger, Timothy E Schlub, Mary-Anne Young, Martin H N Tattersall, Judy Kirk, Ros Eeles, Emma Killick, Leslie G Walker, Sue Shanley, David M Thomas, Gillian Mitchell
Germline TP53 mutation carriers are at high risk of developing a range of cancers. Effective cancer risk management is an important issue for these individuals. We assessed the psychosocial impact in TP53 mutation carriers of WB-MRI screening as part of the Surveillance in Multi-Organ Cancer (SMOC+) protocol, measuring their unmet needs, anxiety and depression levels as well as cancer worry using psychological questionnaires and in-depth interviews about their experiences of screening. We present preliminary psychosocial findings from 17 participants during their first 12 months on the trial...
January 25, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28114597/frequency-of-thyroid-carcinoma-in-brazilian-tp53-p-r337h-carriers-with-li-fraumeni-syndrome
#7
Maria Nirvana da Cruz Formiga, Kelvin César de Andrade, Luiz Paulo Kowalski, Maria Isabel Achatz
Importance: Li Fraumeni syndrome (LFS) is associated with a wide variety of tumors; nevertheless, thyroid carcinoma has not been evaluated in this syndrome. Due to the Brazilian founder mutation p.R337H, some tumors that have not been described in the classic LFS have been observed in a higher-than-expected prevalence in Brazil. Objective: To determine the frequency of thyroid carcinoma in Brazilian carriers of a founder TP53 p.R337H mutation. Design, Setting, and Participants: We reviewed medical records of patients with LFS with germline TP53 p...
January 19, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28053162/postar-a-platform-for-exploring-post-transcriptional-regulation-coordinated-by-rna-binding-proteins
#8
Boqin Hu, Yu-Cheng T Yang, Yiming Huang, Yumin Zhu, Zhi John Lu
We present POSTAR (http://POSTAR.ncrnalab.org), a resource of POST-trAnscriptional Regulation coordinated by RNA-binding proteins (RBPs). Precise characterization of post-transcriptional regulatory maps has accelerated dramatically in the past few years. Based on new studies and resources, POSTAR supplies the largest collection of experimentally probed (∼23 million) and computationally predicted (approximately 117 million) RBP binding sites in the human and mouse transcriptomes. POSTAR annotates every transcript and its RBP binding sites using extensive information regarding various molecular regulatory events (e...
January 4, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28008605/immune-deficiency-augments-the-prevalence-of-p53-loss-of-heterozygosity-in-spontaneous-tumors-but-not-bi-directional-loss-of-heterozygosity-in-bone-marrow-progenitors
#9
Yoav Shetzer, Yael Napchan, Tom Kaufman, Alina Molchadsky, Perry Tal, Naomi Goldfinger, Varda Rotter
p53 loss of heterozygosity (LOH) is a frequent event in tumors of somatic and Li-Fraumeni syndrome patients harboring p53 mutation. Here, we focused on resolving a possible crosstalk between the immune-system and p53 LOH. Previously, we reported that p53 heterozygous bone-marrow mesenchymal progenitor cells undergo p53 LOH in-vivo. Surprisingly, the loss of either the wild-type p53 allele or mutant p53 allele was detected with a three-to-one ratio in favor of losing the mutant allele. In this study, we examined whether the immune-system can affect the LOH directionality in bone marrow progenitors...
March 15, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28003275/tp53-mutations-in-hypodiploid-acute-lymphoblastic-leukemia
#10
Evan Q Comeaux, Charles G Mullighan
Acute lymphoblastic leukemia (ALL) is an aggressive neoplasm of B- or T-lymphoid progenitors and is the commonest childhood tumor. ALL comprises multiple subtypes characterized by distinct genetic alterations, with stereotyped patterns of aneuploidy present in many cases. Although alterations of TP53 are common in many tumors, they are infrequent in ALL, with the exception of two ALL subtypes associated with poor outcome: relapsed disease and ALL with hypodiploidy. TP53 alterations are present in almost all cases of ALL with low hypodiploidy and are associated with alterations of the lymphoid transcription factor IKZF2 and the tumor-suppressor gene loci CDKN2A and CDKN2B...
December 21, 2016: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/27984644/li-fraumeni-syndrome-a-paradigm-for-the-understanding-of-hereditary-cancer-predisposition
#11
REVIEW
Jessica M Valdez, Kim E Nichols, Chimene Kesserwan
Li-Fraumeni syndrome (LFS) is a rare cancer predisposing condition caused by germline mutations in TP53, the gene encoding the TP53 transcription factor. LFS is typified by the development of a wide spectrum of childhood and adult-onset malignancies, which includes, among others, the lymphoid and myeloid leukaemias, myelodysplastic syndrome and, to a lesser extent, lymphoma. Accordingly, it is important that haematologists/oncologists be familiar with this pleiotropic hereditary cancer syndrome. The high cancer risk and variability in type and age of cancer onset have raised questions about the underlying biology and optimal treatment approaches for individuals with LFS...
December 16, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27935156/casp9-germline-mutation-in-a-family-with-multiple-brain-tumors
#12
Michael W Ronellenfitsch, Oh Ji Eun, Kaishi Satomi, Koichiro Sumi, Patrick N Harter, Joachim P Steinbach, Jörg Felsberg, David Capper, Catherine Voegele, Geoffroy Durand, James McKay, Florence Le Calvez-Kelm, Jens Schittenhelm, Barbara Klink, Michel Mittelbronn, Hiroko Ohgaki
We report a novel CASP9 germline mutation that may increase susceptibility to the development of brain tumors. We identified this mutation in a family in which three brain tumors had developed within three generations, including two anaplastic astrocytomas occurring in cousins. The cousins were diagnosed at similar ages (29 and 31 years), and their tumors showed similar histological features. Genetic analysis revealed somatic IDH1 and TP53 mutations in both tumors. However, no germline TP53 mutations were detected, despite the fact that this family fulfills the criteria of Li-Fraumeni-like syndrome...
December 9, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27913495/germ-line-mutations-associated-with-leukemias
#13
Christopher C Porter
Several genetic syndromes have long been associated with a predisposition to the development of leukemia, including bone marrow failure syndromes, Down syndrome, and Li Fraumeni syndrome. Recent work has better defined the leukemia risk and outcomes in these syndromes. Also, in the last several years, a number of other germ line mutations have been discovered to define new leukemia predisposition syndromes, including ANKRD26, GATA2, PAX5, ETV6, and DDX41 In addition, data suggest that a substantial proportion of patients with therapy related leukemias harbor germ line mutations in DNA damage response genes such as BRCA1/2 and TP53 Recognition of clinical associations, acquisition of a thorough family history, and high index-of-suspicion are critical in the diagnosis of these leukemia predisposition syndromes...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#14
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27869650/inhibiting-mitochondrial-respiration-prevents-cancer-in-a-mouse-model-of-li-fraumeni-syndrome
#15
Ping-Yuan Wang, Jie Li, Farzana L Walcott, Ju-Gyeong Kang, Matthew F Starost, S Lalith Talagala, Jie Zhuang, Ji-Hoon Park, Rebecca D Huffstutler, Christina M Bryla, Phuong L Mai, Michael Pollak, Christina M Annunziata, Sharon A Savage, Antonio Tito Fojo, Paul M Hwang
Li-Fraumeni syndrome (LFS) is a cancer predisposition disorder caused by germline mutations in TP53 that can lead to increased mitochondrial metabolism in patients. However, the implications of altered mitochondrial function for tumorigenesis in LFS are unclear. Here, we have reported that genetic or pharmacologic disruption of mitochondrial respiration improves cancer-free survival in a mouse model of LFS that expresses mutant p53. Mechanistically, inhibition of mitochondrial function increased autophagy and decreased the aberrant proliferation signaling caused by mutant p53...
January 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27869164/the-hot-spot-p53r172h-mutant-promotes-formation-of-giant-spermatogonia-triggered-by-dna-damage
#16
Y Xue, A Raharja, W Sim, E S M Wong, S A B Rahmat, D P Lane
Overexpression of mutant p53 is a common finding in most cancers but testicular tumours accumulate wild-type p53 (wtp53). In contrast to the accepted concept that p53 homozygous mutant mice do not accumulate mutant p53 in normal cells, our study on a mutant p53 mouse model of Li-Fraumeni syndrome harbouring the hot-spot p53R172H mutation described an elevated level of mutant p53 in non-cancerous mouse tissues. Here we use detailed immunohistochemical analysis to document the expression of p53R172H in mouse testis...
November 21, 2016: Oncogene
https://www.readbyqxmd.com/read/27826806/uptake-of-prenatal-diagnostic-testing-for-retinoblastoma-compared-to-other-hereditary-cancer-syndromes-in-the-netherlands
#17
Charlotte J Dommering, Lidewij Henneman, Annemarie H van der Hout, Marianne A Jonker, Carli M J Tops, Ans M W van den Ouweland, Rob B van der Luijt, Arjen R Mensenkamp, Frans B L Hogervorst, Egbert J W Redeker, Christine E M de Die-Smulders, Annette C Moll, Hanne Meijers-Heijboer
Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands. Uptake for retinoblastoma (Rb) was compared with uptake for Von Hippel-Lindau disease (VHL), Li-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and hereditary breast ovarian cancer (HBOC). A questionnaire was completed by all nine DNA-diagnostic laboratories assessing the number of independent mutation-positive families identified from the start of diagnostic testing until May 2013, and the number of PNDs performed for these syndromes within these families...
November 8, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27754743/p53-oligomerization-status-modulates-cell-fate-decisions-between-growth-arrest-and-apoptosis
#18
Nicholas W Fischer, Aaron Prodeus, David Malkin, Jean Gariépy
Mutations in the oligomerization domain of p53 are genetically linked to cancer susceptibility in Li-Fraumeni Syndrome. These mutations typically alter the oligomeric state of p53 and impair its transcriptional activity. Activation of p53 through tetramerization is required for its tumor suppressive function by inducing transcriptional programs that lead to cell fate decisions such as cell cycle arrest or apoptosis. How p53 chooses between these cell fate outcomes remains unclear. Here, we use 5 oligomeric variants of p53, including 2 novel p53 constructs, that yield either monomeric, dimeric or tetrameric forms of p53 and demonstrate that they induce distinct cellular activities and gene expression profiles that lead to different cell fate outcomes...
December 2016: Cell Cycle
https://www.readbyqxmd.com/read/27728568/a-rare-case-of-li-fraumeni-syndrome
#19
S Sarath Reddy, Ramachandra Prabhu, Tirthankar Mukherjee
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27726232/li-fraumeni-syndrome-presenting-as-mucosal-melanoma-case-report-and-treatment-considerations
#20
Jonah D Klein, Michael E Kupferman
BACKGROUND: Li-Fraumeni syndrome (LFS) is a familial cancer predisposition associated with a germline mutation in TP53. Patients with LFS are at risk of developing malignancies and require comprehensive screening. We describe an index case of LFS presenting with mucosal melanoma. METHODS: A 21-year-old woman presented with a left maxillary mucosal lesion and a left neck mass. Biopsies revealed metastatic mucosal melanoma, which is a pathology previously unreported in LFS families...
October 11, 2016: Head & Neck
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