1,422 results match your criteria li-fraumeni syndrome


Clinical Features of Breast Cancer in South Korean Patients with Germline Gene Mutations.

J Breast Cancer 2021 Mar 12. Epub 2021 Mar 12.

Division of Breast Surgery, Department of Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Purpose: Li-Fraumeni syndrome (LFS) is a rare autosomal cancer syndrome caused by a germline mutation in the gene. Breast cancer in LFS patients is of various subtypes; however, limited data are available on the clinicopathological features of these subtypes and their appropriate treatments. This study aimed to review the clinical features and treatments for breast cancer in South Korean patients with germline mutations. Read More

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Screening of cancer predisposition syndromes.

Pediatr Radiol 2021 Apr 1. Epub 2021 Apr 1.

Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Ave., Toronto, ON, M5G 1X8, Canada.

Pediatric patients with cancer predisposition syndromes are at increased risk of developing malignancies compared with their age-matched peers, necessitating regular surveillance. Screening protocols differ among syndromes and are composed of a number of elements, imaging being one. Surveillance can be initiated in infants, children and adolescents with a tumor known or suspected of being related to a cancer predisposition syndrome or where genetic testing identifies a germline pathogenic gene variant in an asymptomatic child. Read More

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Helping young children understand inherited cancer predisposition syndromes using bibliotherapy.

J Genet Couns 2021 Mar 31. Epub 2021 Mar 31.

Hereditary Cancer Clinic, Illawarra Cancer Care Centre, Wollongong, NSW, Australia.

Communication with children about hereditary conditions in the family can be difficult for parents. Yet, good communication strategies are leading determinants of adaptation and resilience. With inherited cancer predisposition syndromes that can affect young children such as Li-Fraumeni syndrome (LFS) and hereditary pheochromocytoma and paraganglioma syndrome (HPPS), genetic testing and subsequent surveillance in at-risk children is the optimal intervention. Read More

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Loss of H3K27me3 occurs in a large subset of embryonal rhabdomyosarcomas: Immunohistochemical and molecular analysis of 25 cases.

Ann Diagn Pathol 2021 Mar 22;52:151735. Epub 2021 Mar 22.

Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Department of Pathology, University Medical Center Utrecht, Utrecht, the Netherlands.

Loss of histone 3 lysine 27 trimethylation (H3K27me3) has been described as a diagnostic marker for malignant peripheral nerve sheath tumor (MPNST), also discriminating MPNST with rhabdomyoblastic differentiation (malignant Triton tumor) from rhabdomyosarcoma (RMS). We studied the immunohistochemical expression of H3K27me3 in embryonal RMSs (ERMSs), performed methylation profiling in order to support the diagnosis and RNA-sequencing for comparison of the transcriptome of H3K27me3-positive and -negative cases. Of the 25 ERMS patients, 17 were males and 8 were females with an age range from 1 to 67 years (median, 6 years). Read More

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Liposarcoma in children and young adults: a clinicopathologic and molecular study of 23 cases in one of the largest institutions of China.

Virchows Arch 2021 Mar 18. Epub 2021 Mar 18.

Department of Pathology, West China Hospital, Sichuan University, Guoxuexiang 37, Chengdu, 610041, Sichuan, China.

The incidence of pediatric liposarcoma is rare and most published cases lack systematic genetic analyses. We present clinicopathologic and genetic features of 23 liposarcomas aged <22 years. The study cohort comprised 10 males and 13 females (M:F=1:1. Read More

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Genomic and Clinical Correlates of Adrenocortical Carcinoma in an Adult Patient with Li-Fraumeni Syndrome: A Case Report.

Curr Oncol 2020 Dec 31;28(1):226-232. Epub 2020 Dec 31.

Division of Medical Oncology, Department of Oncology, McMaster University, Hamilton, ON L8V 5C2, Canada.

Li-Fraumeni Syndrome (LFS) is defined by germline mutations of the p53 tumour suppressor gene. Adrenocortical carcinoma (ACC) is a rare aggressive malignancy that is commonly associated with LFS. Most LFS-linked ACC cases occur in children, and limited research has been dedicated to the clinical outcomes and genomics of adult cases with LFS-linked ACC. Read More

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December 2020

A rare association of two endocrine tumours: non-functional oncocytic adrenocortical carcinoma and Papillary thyroid carcinoma.

Horm Mol Biol Clin Investig 2021 Mar 8. Epub 2021 Mar 8.

Servicio de Endocrinología y Nutrición, Hospital Universitario La Paz, Madrid, Spain.

Objectives: To describe a rare association of two endocrine tumours in a clinical case.

Case Presentation: A 54-year-old woman with a classic Papillary thyroid cancer (PTC) assessed by the Endocrinology Department of a tertiary hospital from May-2015 to May-2020. PTC was treated with a total thyroidectomy and lymphadenectomy in May-2015. Read More

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The Common Germline TP53-R337H Mutation is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model.

Cancer Res 2021 Feb 26. Epub 2021 Feb 26.

Dept of Pathology, St Jude Children's Research Hosp

The TP53-R337H founder mutation exists at a high frequency throughout southern Brazil and represents one of the most common germline TP53 mutations reported to date. It was identified in pediatric adrenocortical tumors in families with a low incidence of cancer. The R337H mutation has since been found in association with early-onset breast cancers and Li-Fraumeni syndrome (LFS). Read More

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February 2021

A Novel Germline TP53 Mutation in a Patient With Li-Fraumeni Syndrome: Resolving a Variant of Uncertain Significance.

J Pediatr Hematol Oncol 2021 Feb 25. Epub 2021 Feb 25.

Department of Pediatrics, Arkansas Children's Research Institute, University of Arkansas for Medical Sciences, Little Rock, AR.

Increasing availability of genomic testing poses new challenges to clinicians, particularly where variant interpretation from commercial sources may be equivocal. The authors report a patient with recurrent rhabdomyosarcoma and subsequent bilateral breast cancer who was found to harbor a previously undescribed germline TP53 sequence alteration annotated by the commercial laboratory as a variant of uncertain significance. By investigating publicly available databases of aggregated normal germline and malignant somatic genomic sequences, the authors conclude that this missense variant, c. Read More

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February 2021

Therapy-related Myeloid Neoplasms in Children: A Single-institute Study.

J Pediatr Hematol Oncol 2021 Mar 31. Epub 2021 Mar 31.

Department of Pathology and Laboratory Medicine, Children's of Alabama Department of Pediatrics, Division of Hematology and Oncology Departments of Pathology Genetics, University of Alabama at Birmingham, Birmingham, AL.

Therapy-related myeloid neoplasm (t-MN) in the pediatric population is not well characterized. We studied 12 pediatric patients diagnosed with t-MN in our institution since 2006. The median age at the t-MN diagnoses was 14. Read More

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Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET.

Am J Med Genet A 2021 04 21;185(4):1282-1287. Epub 2021 Feb 21.

Developmental Therapeutics Branch, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.

Adrenocortical carcinoma (ACC) is a rare aggressive malignancy that originates in the outer layer of the adrenal gland. Most ACCs are sporadic, but a small percentage of cases are due to hereditary cancer syndromes such as Li-Fraumeni syndrome (LFS), Lynch syndrome (LS), and familial adenomatous polyposis (FAP). Multiple endocrine neoplasia type 2A (MEN2A) is an inherited disorder that predisposes to medullary thyroid cancer, pheochromocytoma, and parathyroid hyperplasia. Read More

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Molecular insights into malignant progression of atypical choroid plexus papilloma.

Cold Spring Harb Mol Case Stud 2021 Feb 19;7(1). Epub 2021 Feb 19.

Department of Pediatrics, Michigan Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA.

Choroid plexus tumors are rare pediatric neoplasms ranging from low-grade papillomas to overtly malignant carcinomas. They are commonly associated with Li-Fraumeni syndrome and germline mutations. Choroid plexus carcinomas associated with Li-Fraumeni syndrome are less responsive to chemotherapy, and there is a need to avoid radiation therapy leading to poorer outcomes and survival. Read More

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February 2021

Prevalence of the Brazilian Founder c.1010G>A (p.Arg337His) in Lung Adenocarcinoma: Is Genotyping Warranted in All Brazilian Patients?

Front Genet 2021 2;12:606537. Epub 2021 Feb 2.

Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

In Southern and Southeastern Brazil, there is a germline pathogenic variant with incomplete penetrance located in the oligomerization domain of , c.1010G>A (p.Arg337His). Read More

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February 2021

Mutations Encountered in Acute Lymphoblastic Leukemia: A Retrospective Study in a Teaching Hospital in Jeddah, Saudi Arabia.

Cureus 2021 Jan 2;13(1):e12426. Epub 2021 Jan 2.

Biochemistry, King Abdulaziz University, Jeddah, SAU.

Background Acute lymphoblastic leukemia (ALL) is an invasive cancer that results from the malignant conversion and rapid replication of white blood cells and hematopoietic stem cells that supply multiple lymphocytes. Harmful gene mutations occur in more than two-thirds of patients with ALL; however, these mutations have not been extensively identified in Saudi Arabia. Aim The aim of this study was to identify the types of mutations in patients with ALL at King Abdulaziz University Hospital (KAUH) in Jeddah. Read More

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January 2021

LncRNA H19 Suppresses Osteosarcomagenesis by Regulating snoRNAs and DNA Repair Protein Complexes.

Front Genet 2020 15;11:611823. Epub 2021 Jan 15.

Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, United States.

Osteosarcoma is one of the most frequent common primary malignant tumors in childhood and adolescence. Long non-coding RNAs (lncRNAs) have been reported to regulate the initiation and progression of tumors. However, the exact molecular mechanisms involving lncRNA in osteosarcomagenesis remain largely unknown. Read More

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January 2021

Pediatric Case of Li-Fraumeni Syndrome in Honduras.

Case Rep Pediatr 2021 11;2021:6612802. Epub 2021 Jan 11.

Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.

Li-Fraumeni syndrome is an inherited, autosomal dominant disease. It is categorized as a rare disease caused by mutations of the gene, which causes increased susceptibility of the patients and their children to many types of cancer. Choroid plexus tumor is rare, which occurs in 0. Read More

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January 2021

Pilot Study Assessing Tolerability and Metabolic Effects of Metformin in Patients With Li-Fraumeni Syndrome.

JNCI Cancer Spectr 2020 Dec 18;4(6):pkaa063. Epub 2020 Jul 18.

Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.

Background: Li-Fraumeni syndrome (LFS) is a highly penetrant autosomal dominant cancer predisposition disorder caused by germline pathogenic variants. Patients with LFS have increased oxidative phosphorylation capacity in skeletal muscle and oxidative stress in blood. Metformin inhibits oxidative phosphorylation, reducing available energy for cancer cell proliferation and decreasing production of reactive oxygen species that cause DNA damage. Read More

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December 2020

The importance of Li-Fraumeni syndrome, a hereditary cancer predisposition disorder.

Arch Argent Pediatr 2021 02;119(1):e11-e17

Hospital Universitario HM Montepríncipe, Boadilla del Monte, Madrid, España.

Pediatric cancer is rare. It is estimated that more than 10-15 % of tumors are secondary to a pathogenic variant in a cancer predisposition gene. More than 100 cancer predisposition genes and their association with syndromes or isolated tumors have been identified. Read More

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February 2021

Refractory alveolar rhabdomyosarcoma in an 11-year-old male.

Cold Spring Harb Mol Case Stud 2021 Feb 19;7(1). Epub 2021 Feb 19.

Children's Cancer Therapy Development Institute, Beaverton, Oregon 97005, USA.

Rhabdomyosarcoma (RMS) is a mesenchymal malignancy phenocopying muscle and is among the leading causes of death from childhood cancer. Metastatic alveolar rhabdomyosarcoma is the most aggressive subtype with an 8% 5-yr disease-free survival rate when a chromosomal fusion is present and a 29% 5-yr disease-free survival rate when negative for a fusion event. The underlying biology of -fusion-negative alveolar rhabdomyosarcoma remains largely unexplored and is exceedingly rare in Li-Fraumeni syndrome patients. Read More

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February 2021

Genetics and the Gynecologic Patient.

Ochsner J 2020 ;20(4):446-451

Department of Gynecologic Oncology, Ochsner Clinic Foundation, New Orleans, LA.

The field of hereditary cancer syndromes and genetic testing for patients and families is a rapidly evolving discipline, with an emphasis on cancer prevention. We review the literature regarding the most common genetic syndromes associated with gynecologic malignancies and discuss the management of these conditions. We also examine the logistic process surrounding cancer genetic testing and identify some perceived barriers. Read More

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January 2020

Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine.

Hered Cancer Clin Pract 2021 Jan 6;19(1). Epub 2021 Jan 6.

N.N. Petrov Institute of Oncology, Pesochniy, Saint-Petersburg, 197758, Russia.

Background: Many cancer patients undergo sophisticated laboratory testing, which requires proper interpretation and interaction between different specialists.

Case Presentation: We describe a patient with an extensive family history of cancer, who was diagnosed with bilateral breast cancer and two lung cancer lumps by the age of 40 years. She submitted a lung cancer specimen to a genetic profiling service, which reported the presence of the EGFR mutation (a combination of G719S and L833V substitutions) and the TP53 с. Read More

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January 2021

Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome.

Hered Cancer Clin Pract 2021 Jan 6;19(1). Epub 2021 Jan 6.

Laboratory of Molecular Oncology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.

Background: Li-Fraumeni Syndrome (LFS) is a cancer predisposition syndrome characterized by the early-onset of multiple primary cancers which can occur at different moments (metachronous onset) or, more rarely, coincidentally (synchronous onset). Here we describe a previously unreported patient with presentation of synchronous Wilms tumor and Choroid plexus papilloma, leading to the diagnosis of a Li-Fraumeni Syndrome (LFS).

Case Presentation: A 6-year-old girl without previous complains presented with abdominal pain. Read More

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January 2021

Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

J Natl Compr Canc Netw 2021 01 6;19(1):77-102. Epub 2021 Jan 6.

National Comprehensive Cancer Network.

The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic or likely pathogenic variants associated with increased risk of breast, ovarian, and pancreatic cancer and recommended approaches to genetic testing/counseling and management strategies in individuals with these pathogenic or likely pathogenic variants. This manuscript focuses on cancer risk and risk management for BRCA-related breast/ovarian cancer syndrome and Li-Fraumeni syndrome. Carriers of a BRCA1/2 pathogenic or likely pathogenic variant have an excessive risk for both breast and ovarian cancer that warrants consideration of more intensive screening and preventive strategies. Read More

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January 2021

Recent advances in the pathology of heritable gastric cancer syndromes.

Histopathology 2021 Jan;78(1):125-147

Department of Pathology, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal.

Despite the relative rarity of hereditary gastric cancer syndromes, the prompt recognition of their specific clinical features and histopathological characteristics is pivotal in offering patients the most appropriate treatment. In this article, we address the three major inherited syndromes that primarily affect the stomach: hereditary diffuse gastric cancer (HDGC), caused by germline variants in CDH1 and CTNNA1; gastric adenocarcinoma and proximal polyposis of the stomach, caused by germline mutations in promoter 1B of APC; and familial intestinal gastric cancer, which has a poorly defined genetic cause. The main focus will be on HDGC, in light of the recent publication of updated clinical practice guidelines and emerging concepts regarding HDGC histopathology. Read More

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January 2021

Genetic and stochastic influences upon tumor formation and tumor types in Li-Fraumeni mouse models.

Life Sci Alliance 2021 03 29;4(3). Epub 2020 Dec 29.

Rutgers Cancer Institute of New Jersey, Rutgers, State University of New Jersey, New Brunswick, NJ, USA

is the most frequently mutated gene in human cancers. Li-Fraumeni syndrome patients inheriting heterozygous mutations often have a much-increased risk to develop cancer(s) at early ages. Recent studies suggest that some individuals inherited mutations do not have the early onset or high frequency of cancers. Read More

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Germline Cancer-Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report from the Children's Oncology Group.

J Natl Cancer Inst 2020 Dec 29. Epub 2020 Dec 29.

Section of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX.

Background: Several cancer-susceptibility syndromes are reported to underlie pediatric rhabdomyosarcoma (RMS); however, there have been no systematic efforts to characterize the heterogeneous genetic etiologies of this often-fatal malignancy.

Methods: We performed exome-sequencing on germline DNA from 615 patients with newly diagnosed RMS consented through the Children's Oncology Group. We compared the prevalence of cancer-predisposition variants in 63 autosomal dominant cancer-predisposition genes in these patients with population controls (n = 9,963). Read More

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December 2020

Re-irradiation using proton therapy for radiation-induced secondary cancer with Li-Fraumeni syndrome: A case report and review of literature.

J Cancer Res Ther 2020 Oct-Dec;16(6):1524-1527

Department of Radiation Oncology, Proton Medical Research Center, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan.

Li-Fraumeni syndrome (LFS) is a genetic disease that is hypersensitive to radiotherapy. Proton therapy (PT) was strongly recommended for pediatric and radiation-sensitive tumors. However, there is little information on PT for LFS. Read More

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December 2020

Germline Testing in Breast Cancers: Why, When and How?

Cancers (Basel) 2020 Dec 14;12(12). Epub 2020 Dec 14.

Department of Genetics, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, 76000 Rouen, France.

Germline variants represent a main genetic cause of breast cancers before 31 years of age. Development of cancer multi-gene panels has resulted in an exponential increase of germline testing in breast cancer patients. Interpretation of variants, which are mostly missense, is complex and requires excluding clonal haematopoiesis and circulating tumour DNA. Read More

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December 2020