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Li-Fraumeni

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https://www.readbyqxmd.com/read/28429638/an-unusual-presentation-of-a-cervical-paraspinal-leiomyoma-in-an-adolescent-female
#1
Jeffrey A Swarz, Arayamparambil C Anilkumar, Douglas C Miller, N Scott Litofsky, Tomoko Tanaka
Objective We describe an apparently unique case of an extra-uterine leiomyoma in the cervical paraspinus including its evaluation and management. Methods A 14-year-old girl was referred to the neurology clinic for an abnormal head CT following a concussion. MRI revealed a homogenously enhancing left cervical paraspinal mass. The patient underwent complete resection and subsequent genetic testing and counseling were obtained to determine the presence of Li-Fraumeni Syndrome (LFS) or Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) mutations...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28421271/-hereditary-bone-tumors
#2
D Baumhoer
Hereditary bone tumors are rare and result from mutations affecting cell cycle regulation (e.g. retinoblastoma syndrome/RB1 and Li-Fraumeni syndrome/TP53, Gardner syndrome/APC), energy metabolism (enchondromatosis/IDH1/2), complex signaling cascades (multiple hereditary exostoses/EXT1/2) and DNA integrity (Rothmund-Thomson/RECQL4, Werner/WRN and Bloom syndromes/BLM). The majority of syndromes are incompletely understood and can lead to multiple benign tumors, of which some might undergo secondary malignant transformation over time (enchondromatosis: enchondromas, multiple hereditary exostoses: osteochondromas, Gardner syndrome: osteomas) or bone sarcomas, primarily osteosarcomas as primary (Li-Fraumeni, Rothmund-Thomson, Werner and Bloom syndromes) or secondary manifestation (retinoblastoma syndrome) of the disease...
April 18, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28373404/precancer-atlas-to-drive-precision-prevention-trials
#3
Avrum Spira, Matthew B Yurgelun, Ludmil Alexandrov, Anjana Rao, Rafael Bejar, Kornelia Polyak, Marios Giannakis, Ali Shilatifard, Olivera J Finn, Madhav Dhodapkar, Neil E Kay, Esteban Braggio, Eduardo Vilar, Sarah A Mazzilli, Timothy R Rebbeck, Judy E Garber, Victor E Velculescu, Mary L Disis, Douglas C Wallace, Scott M Lippman
Cancer development is a complex process driven by inherited and acquired molecular and cellular alterations. Prevention is the holy grail of cancer elimination, but making this a reality will take a fundamental rethinking and deep understanding of premalignant biology. In this Perspective, we propose a national concerted effort to create a Precancer Atlas (PCA), integrating multi-omics and immunity - basic tenets of the neoplastic process. The biology of neoplasia caused by germline mutations has led to paradigm-changing precision prevention efforts, including: tumor testing for mismatch repair (MMR) deficiency in Lynch syndrome establishing a new paradigm, combinatorial chemoprevention efficacy in familial adenomatous polyposis (FAP), signal of benefit from imaging-based early detection research in high-germline risk for pancreatic neoplasia, elucidating early ontogeny in BRCA1-mutation carriers leading to an international breast cancer prevention trial, and insights into the intricate germline-somatic-immunity interaction landscape...
April 1, 2017: Cancer Research
https://www.readbyqxmd.com/read/28369373/germline-tp53-mutations-result-into-a-constitutive-defect-of-p53-dna-binding-and-transcriptional-response-to-dna-damage
#4
Yasmine Zerdoumi, Raphaël Lanos, Sabine Raad, Jean-Michel Flaman, Gaëlle Bougeard, Thierry Frebourg, Isabelle Tournier
Li-Fraumeni Syndrome (LFS) results from heterozygous germline mutations of TP53, encoding a key transcriptional factor activated in response to DNA damage. We have recently shown, from a large LFS series, that dominant-negative missense mutations are the most clinically severe and, thanks to a new p53 functional assay in lymphocytes, that they alter the p53 transcriptional response to DNA damage more drastically than null mutations. In this study, we first confirmed this observation by performing the p53 functional assay in lymphocytes from 56 TP53 mutation carriers harboring 35 distinct alterations...
March 24, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28356770/breast-cancer-in-patients-with-li-fraumeni-syndrome-a-case-series-study-and-review-of-literature
#5
Amara G Nandikolla, Sangeetha Venugopal, Jesus Anampa
BACKGROUND: Li-Fraumeni Syndrome (LFS) is a rare disease with autosomal dominant inheritance linked to germline mutations of tumor suppressor gene TP53. These patients are predisposed to malignancies such as sarcoma, breast cancer, leukemia, and other malignancies. Breast cancer, the most common malignancy in adult patients with LFS, has an early-onset presentation and is usually treated as per the guidelines for the general population due to the limited literature about breast cancer in LFS...
2017: Breast Cancer: Targets and Therapy
https://www.readbyqxmd.com/read/28303452/should-genetic-testing-be-offered-for-children-the-perspectives-of-adolescents-and-emerging-adults-in-families-with-li-fraumeni-syndrome
#6
Melissa A Alderfer, Robert B Lindell, Claire I Viadro, Kristin Zelley, Jessica Valdez, Belinda Mandrell, Carol A Ford, Kim E Nichols
Whether children should be offered genetic testing for cancer risk is much debated but young voices are rarely heard in these conversations. The current study explored perspectives of genetic testing held by adolescents and emerging adults in families with Li Fraumeni syndrome (LFS). Twelve 12- to 25-year-olds in families with LFS completed qualitative interviews for this study. All believed that testing should be offered for children but many qualified this statement saying parental approval would be needed and testing should be optional...
March 16, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28301458/the-psychosocial-effects-of-the-li-fraumeni-education-and-early-detection-lead-program-on-individuals-with-li-fraumeni-syndrome
#7
Jessica Ross, Jasmina Bojadzieva, Susan Peterson, Sarah Jane Noblin, Rebecca Yzquierdo, Martha Askins, Louise Strong
PURPOSE: In the past 5 years, new screening protocols have been developed that provide improved cancer screening options for individuals with Li-Fraumeni syndrome (LFS). Very little has been published on the psychosocial impact of these screening protocols. The goals of this study were to determine how participation in screening impacts individuals psychosocially, to examine the benefits and drawbacks of screening, and to evaluate possible barriers to continued screening. METHODS: We performed a qualitative study consisting of semistructured phone interviews conducted from December 2015 to February 2016 with 20 individuals attending the LFS screening program at MD Anderson Cancer Center...
March 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28279309/allele-specific-wild-type-tp53-expression-in-the-unaffected-carrier-parent-of-children-with-li-fraumeni-syndrome
#8
Jeffrey S Buzby, Shirley A Williams, Lana Schaffer, Steven R Head, Diane J Nugent
Li-Fraumeni syndrome (LFS) is an autosomal dominant disorder where an oncogenic TP53 germline mutation is passed from parent to child. Tumor protein p53 is a key tumor suppressor regulating cell cycle arrest in response to DNA damage. Paradoxically, some mutant TP53 carriers remain unaffected, while their children develop cancer within the first few years of life. To address this paradox, response to UV stress was compared in dermal fibroblasts (dFb) from an affected LFS patient vs. their unaffected carrier parent...
February 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28270529/inherited-tp53-mutations-and-the-li-fraumeni-syndrome
#9
Tanya Guha, David Malkin
Li-Fraumeni syndrome (LFS) is a complex hereditary cancer predisposition disorder associated with early-onset cancers in diverse tissues of origin. Germline TP53 mutations are identified in 75% of patients with classic LFS. The lifetime likelihood of a TP53 mutation carrier developing cancer approaches 75% in males and almost 100% in females. Several genetic modifiers have been implicated to account for the phenotypic variability within and across LFS families; however, efforts to develop predictive algorithms of age of onset and type of cancers in individual patients have not yet found clinical use...
March 7, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28254861/recommended-guidelines-for-validation-quality-control-and-reporting-of-tp53-variants-in-clinical-practice
#10
REVIEW
Bernard Leroy, Mandy L Ballinger, Fanny Baran-Marszak, Gareth L Bond, Antony Braithwaite, Nicole Concin, Lawrence A Donehower, Wafik S El-Deiry, Pierre Fenaux, Gianluca Gaidano, Anita Langerød, Eva Hellstrom-Lindberg, Richard Iggo, Jacqueline Lehmann-Che, Phuong L Mai, David Malkin, Ute M Moll, Jeffrey N Myers, Kim E Nichols, Sarka Pospisilova, Patricia Ashton-Prolla, Davide Rossi, Sharon A Savage, Louise C Strong, Patricia N Tonin, Robert Zeillinger, Thorsten Zenz, Joseph F Fraumeni, Peter E M Taschner, Pierre Hainaut, Thierry Soussi
Accurate assessment of TP53 gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li-Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic data from more than 20,000 cancer genomes provide a wealth of information on cancer gene alterations and have confirmed TP53 as the most commonly mutated gene in human cancer. Analysis of a database of 70,000 TP53 variants reveals that the two newly discovered exons of the gene, exons 9β and 9γ, generated by alternative splicing, are the targets of inactivating mutation events in breast, liver, and head and neck tumors...
March 15, 2017: Cancer Research
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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