Search Our Scientific Publications & Authors

Mol Imaging Radionucl Ther 2021 06;30(2):110-112

Las Américas Clinic Auna, Department of Radiology, Medellin, Antioquia, Colombia

Li-Fraumeni syndrome is a rare disorder caused by abnormalities of the tumor-suppressor protein gene. We present the case of a 26-years-old female diagnosed with bilateral ductal carcinoma. The genetic panel for breast cancer gene 1 (BRCA1) and BRCA2 mutations was negative and positive heterozygous germline tumor protein gene mutations, considering Li-Fraumeni syndrome. Read More

Fam Cancer 2021 Jun 2. Epub 2021 Jun 2.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive, Bethesda, 20892, USA.

Comprehensive annual screening reduces cancer-related mortality in Li-Fraumeni syndrome (LFS), a cancer-prone disorder caused by pathogenic germline TP53 variants. Blood tests at months 4 and 8 between annual screening are recommended but their effectiveness in early cancer detection has not been established. Interim blood counts and inflammatory biomarkers were evaluated in 132 individuals with LFS (112 adults, 87 female, median age 36 years [range 3-68], median follow-up 37 months [range 2-70]) and test abnormalities were observed in 225 (35%). Read More

Clin Lymphoma Myeloma Leuk 2020 Dec 31. Epub 2020 Dec 31.

Department of Hematology, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.

Neuro Oncol 2021 May 28. Epub 2021 May 28.

Group Genome Instability in Tumors, German Cancer Research Center (DKFZ).

Background: Medulloblastomas with chromothripsis developing in children with Li-Fraumeni Syndrome (germline TP53 mutations) are highly aggressive brain tumors with dismal prognosis. Conventional photon radiotherapy and DNA-damaging chemotherapy are not successful for these patients and raise the risk of secondary malignancies. We hypothesized that the pronounced homologous recombination deficiency in these tumors might offer vulnerabilities that can be therapeutically utilized in combination with high linear energy transfer carbon ion radiotherapy. Read More

Clin Exp Dermatol 2021 May 19. Epub 2021 May 19.

Department of Dermatology, University hospital Galway, Galway, Ireland.

Li-Fraumeni Syndrome (LFS) is a recognised cancer predisposition syndrome associated with early onset of multiple cancer types. It was first described in 1969 following the identification of two soft tissue sarcomas in five families with the index case presenting with rhabdomyosarcoma in childhood. The tumour spectrum classically includes a range of soft tissue sarcomas, bone tumours, haematological malignancies, breast cancer and adrenal cortical cancer. Read More

Indian J Surg Oncol 2021 Apr 4;12(Suppl 1):30-33. Epub 2020 Apr 4.

Department of Surgical Disciplines, AIIMS, Ansari Nagar (East), New Delhi, 110029 India.

The field of genetic counseling in India has enormously transformed over the past few years. Genetic counseling is a communication process which deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. Genetic counseling is not merely having a conversation based on genomic data. Read More

Int J Gynecol Pathol 2021 May 12. Epub 2021 May 12.

Department of Pathology, Yale-New Haven Hospital, Yale School of Medicine (L.I., K.E.F., V.P.) Department of Obstetrics and Reproductive Sciences, Yale University School of Medicine, New Haven (V.P.) Department of Obstetrics and Gynecology, Yale-New Haven Health, Bridgeport Hospital, Bridgeport, Connecticut (M.C.) Department of Pathology, University of California San Diego, San Diego, California (O.F.).

Patients with germline TP53 mutations are characterized by the occurrence of multiple early-onset malignancies. The characteristic syndrome is Li-Fraumeni syndrome (OMIM # 151623), an autosomal dominant disorder typified by premenopausal breast carcinoma, adrenal cortical tumors, bone and soft tissue sarcomas, leukemias, and tumors of the brain and spinal cord. Gynecologic malignancies are uncommonly reported in families harboring TP53 mutations, and the predominant tumor type reported is ovarian. Read More

Front Cell Dev Biol 2021 27;9:660069. Epub 2021 Apr 27.

Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.

Cancer predisposition syndromes are rare, typically monogenic disorders that result from germline mutations that increase the likelihood of developing cancer. Although these disorders are individually rare, resulting cancers collectively represent 5-10% of all malignancies. In addition to a greater incidence of cancer, affected individuals have an earlier tumor onset and are frequently subjected to long-term multi-modal cancer screening protocols for earlier detection and initiation of treatment. Read More

Ann Otol Rhinol Laryngol 2021 May 10:34894211014786. Epub 2021 May 10.

Department of Otolaryngology-Head and Neck Surgery, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.

Introduction: Cancer predisposition syndromes are germline pathogenic variants in genes that greatly raise the risk of developing neoplastic diseases. One of the most well-known is Li-Fraumeni syndrome (LFS), which is due to pathogenic variants in the gene. Children with LFS have higher risks for multiple malignancies before adulthood, often with rare and aggressive subtypes. Read More

Cancer Sci 2021 May 1. Epub 2021 May 1.

Division of Genetic Medicine, Master of Science, Graduate School of Science and Engineering Research, Kindai University, Japan.

Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome, and the majority of patients with LFS have been identified with germline variants in the p53 tumor suppressor (TP53) gene. In the past three decades, considerable case reports of TP53 germline variants have been published in Japan. To the best of our knowledge, there have been no large-scale studies of Japanese patients with LFS. Read More

Radiol Clin North Am 2021 May;59(3):471-500

Department of Radiology and Medical Imaging, University of Virginia Health System, 1215 Lee Street, Charlottesville, VA 22903, USA. Electronic address:

Tumor predisposition syndromes represent a heterogeneous group of multiorgan disorders, with many having substantial central nervous system involvement. This article highlights the common and uncommon manifestations of these syndromic disorders, the underlying genetic pathways, and the imaging findings. Radiologists must be aware of the diagnostic criteria, optimal imaging techniques (both for diagnosis and surveillance), as well as the innumerable imaging manifestations of these syndromes. Read More

Neurol Int 2021 Apr 22;13(2):175-183. Epub 2021 Apr 22.

Department of Emergency and Organ Transplantation-Section of Pathology, University "Aldo Moro" of Bari, 70124 Bari, Italy.

Li-Fraumeni syndrome (LFS) is a rare high-penetrance and autosomal-dominant pathological condition caused by the germline mutation of the TP53 gene, predisposing to the development of tumors from pediatric age. We conducted a qualitative systematic review following the ENTREQ (Enhancing Transparency in Reporting the Synthesis of Qualitative Research) framework. A search was made in MEDLINE/Pubmed and MeSH Database using the terms "Li-Fraumeni" AND "pediatric high-grade glioma (HGG)", identifying six cases of HGGs in pediatric patients with LFS. Read More

Surg Neurol Int 2021 17;12:99. Epub 2021 Mar 17.

Department of Neurosurgery, Yale University School of Medicine, 20 York Street, LCI 8, New Haven, Connecticut, United States.

Background: While meningiomas are some of the most common intracranial tumors, the presence of multiple ones at the time of presentation is rare and can most commonly be observed in patients with well-described syndromes (i.e., neurofibromatosis type 2) or those with prior cranial radiation history. Read More

Endocr Pract 2020 Nov 14;26(11):1366-1383. Epub 2020 Dec 14.

Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan. Electronic address:

Objective: The aim of this Disease State Clinical Review is to provide a practical approach to patients with newly diagnosed adrenocortical carcinoma, as well as to follow-up and management of patients with persistent or recurrent disease.

Methods: This is a case-based clinical review. The provided recommendations are based on evidence available from randomized prospective clinical studies, cohort studies, cross-sectional and case-based studies, and expert opinions. Read More

J Breast Cancer 2021 Apr 12;24(2):175-182. 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

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

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

Ann Diagn Pathol 2021 Jun 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

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

JAAD Case Rep 2021 Apr 16;10:31-33. Epub 2021 Feb 16.

Center for Clinical Studies, Houston, Texas.

Curr Oncol 2020 12 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

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

Cancer Res 2021 May 26;81(9):2442-2456. Epub 2021 Feb 26.

Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.

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

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

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

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

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

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

Leukemia 2021 05 12;35(5):1475-1479. Epub 2021 Feb 12.

Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.

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