scholarly journals Pediatric Case of Li–Fraumeni Syndrome in Honduras

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
R. Martínez-Beckerat ◽  
C. Alas-Pineda ◽  
M. Melgar-Gonzales ◽  
B. Mejía-Raudales ◽  
N. Andino-Paz ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Tp53 Gene ◽  
Pediatric Case ◽  
Choroid Plexus Tumor ◽  
Li Fraumeni Syndrome ◽  
Left Lateral Ventricle ◽  
Dominant Disease ◽  
History Of ◽  
Li Fraumeni ◽  
Increased Susceptibility

Li–Fraumeni syndrome is an inherited, autosomal dominant disease. It is categorized as a rare disease caused by mutations of the TP53 gene, which causes increased susceptibility of the patients and their children to many types of cancer. Choroid plexus tumor is rare, which occurs in 0.3 cases per 1,000,000 people, of which 40% turn out to be carcinomas. We present a 12-year-old boy with a history of worsening headaches of more than one month, gait disturbance, projectile vomiting, and right hemiparesis. An intraventricular tumor was identified in the occipital of the left lateral ventricle, which turned out to be a TP53-mutant choroidal plexus carcinoma.

scholarly journals Metachronic Breast and Cerebellar Neoplasm in a Young Patient

2020 ◽  
Vol 42 (02) ◽  
pp. 114-119
Author(s):  
Jéssika de Oliveira Nascimento ◽  
Lara Caroline Anastacio Haro ◽  
Rafael da Silva Sá ◽  
Rebeca Espelho Storch
Keyword(s):  
Young Patient ◽  
Tp53 Gene ◽  
Mucinous Carcinoma ◽  
Breast Cancers ◽  
Li Fraumeni Syndrome ◽  
Cerebellar Neoplasm ◽  
Short Period ◽  
Dominant Disease ◽  
Desmoplastic Medulloblastoma ◽  
Li Fraumeni

AbstractSeveral factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype of invasive carcinoma, it most frequently affects women of advanced age and represents 1 to 7% of all breast cancers. The reported case aims to show the rarity of the occurrence of desmoplastic medulloblastoma and mammary mucinous carcinoma in a young patient in a short period of time, in different sites, without direct anatomical attachment and without occurrence of metastasis. Initially, this patient had a desmoplastic medulloblastoma and was treated with lumpectomy and radiotherapy. After 13 months, the patient was diagnosed with a mucinous breast carcinoma, underwent mastectomy, adjuvant chemotherapy and is currently undergoing endocrinotherapy. We conclude, based on the metachronous characteristic of the neoplasia and clinical characteristics, that the patient is likely to have Li-Fraumeni syndrome, an autosomal dominant disease with mutation of the TP53 gene, which is the the main involved. Because the patient does not present all the characteristics of the phenotype of the syndrome, she can thus be classified as having Li-Fraumeni variant or Li-Fraumeni-like syndrome.

scholarly journals Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Francesco Paduano ◽  
Fernanda Fabiani ◽  
Emma Colao ◽  
Francesco Trapasso ◽  
Nicola Perrotti ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Liver Carcinoma ◽  
The Novel ◽  
Li Fraumeni Syndrome ◽  
Pathogenic Variants ◽  
Family Pedigree ◽  
The Family ◽  
Dominant Disease ◽  
Li Fraumeni

Li–Fraumeni syndrome (LFS) is an inherited autosomal dominant disease characterized by a predisposition to many cancers. Germline pathogenic variants in TP53 are primarily responsible for LFS. By performing a targeted sequencing panel in a proband with liver carcinoma having a deceased son affected by osteosarcoma, we found the novel heterozygous frameshift variant c.645del (p.Ser215Argfs*32) in the TP53 gene. This variant co-segregated with typical LFS cancers in the family pedigree, consistent with the pathogenicity of this novel and previously undescribed TP53 variant.

scholarly journals A Unique Case of Bilateral Thalamic High-Grade Glioma in a Pediatric Patient with LI-Fraumeni Syndrome: Case Presentation and Review of the Literature

2021 ◽  
Vol 13 (2) ◽  
pp. 175-183
Author(s):  
Raffaella Messina ◽  
Gerardo Cazzato ◽  
Teresa Perillo ◽  
Vita Stagno ◽  
Valeria Blè ◽  
...  
Keyword(s):  
Pathological Condition ◽  
High Grade Glioma ◽  
Tp53 Gene ◽  
High Grade ◽  
Pediatric Age ◽  
Li Fraumeni Syndrome ◽  
Qualitative Systematic Review ◽  
History Of ◽  
Li Fraumeni ◽  
Mesh Database

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. We added a further case with peculiar features such as no familiar history of LFS, association of embryonal rhabdomyosarcoma and bithalamic HGG, whose immunohistochemical profile was accurately defined by Next Generation Sequencing. Knowledge synthesis and case analysis grounded the discussion about challenges in the management of this pathology in pediatric age.

The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations

2009 ◽  
Vol 193 (1) ◽  
pp. 63-66 ◽  
Author(s):  
Alena Finkova ◽  
Alzbeta Vazna ◽  
Ondrej Hrachovina ◽  
Sarka Bendova ◽  
Kamila Prochazkova ◽  
...  
Keyword(s):  
Gene Promoter ◽  
Tp53 Gene ◽  
Tp53 Mutations ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

scholarly journals Li-Fraumeni Syndrome and p53 in 2015: Celebrating their Silver Anniversary

2016 ◽  
Vol 39 (1) ◽  
pp. 37 ◽  
Author(s):  
David Malkin
Keyword(s):  
Wilms Tumor ◽  
Cancer Genetics ◽  
Tp53 Gene ◽  
Pleuropulmonary Blastoma ◽  
Li Fraumeni Syndrome ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Li Fraumeni ◽  
Sick Children ◽  
Risk Of Cancer

In a typical morning in the Cancer Genetics Clinic at The Hospital for Sick Children in Toronto, the following array of patients and families might be seen: a family of three children, all harbouring a mutation of the succinyl dehydrogenase C gene inherited from their father who had had extensive surgery several years ago for a secreting paraganglioma; three families with Li-Fraumeni syndrome, each with at least one child harbouring a TP53 gene mutation conferring a lifetime risk of cancer approaching 100% and currently undergoing surveillance for early tumour detection; two children with Li-Fraumeni syndrome undergoing treatment for cancer – one having had three cancer diagnoses before 19 months of age and the other just completing therapy for metastatic adrenocortical carcinoma at age 3; two children with von Hippel-Lindau disease being monitored for persistent pancreatic neuroendocrine tumors and cerebellar hemangioblastomas, respectively; and one child with Beckwith-Wiedeman syndrome and Wilms tumor and another child completing therapy for a pleuropulmonary blastoma (PPB).

Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a MAFB Missense Variant and Natural History of the Disease

2021 ◽  
pp. 1-6
Author(s):  
Kelin Chen ◽  
Malú Zamariolli ◽  
Maria de Fátima de Faria Soares ◽  
Vera Ayres Meloni ◽  
Maria Isabel Melaragno
Keyword(s):  
Natural History ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Missense Variant ◽  
Heterozygous Variant ◽  
Tarsal Bones ◽  
Mother And Daughter ◽  
Dominant Disease ◽  
History Of

Multicentric carpotarsal osteolysis syndrome (MCTO; MIM #166300) is a rare skeletal disorder characterized by osteolysis affecting particularly the carpal, metacarpal, and tarsal bones, although other bones might be involved. MCTO is an autosomal dominant disease caused by heterozygous variants in the <i>MAFB</i> gene, frequently misdiagnosed as juvenile rheumatoid arthritis due to similar clinical manifestations. This study reports the first Brazilian family diagnosed with MCTO with progressive osteolysis of the carpal and tarsal bones, presenting a c.161C&#x3e;T (p.Ser54Leu) heterozygous variant in the <i>MAFB</i> gene, describing the clinical, radiological, and molecular findings, compared with literature data, and discussing the different clinical and molecular diagnosis, as well as the natural history of the disease. Since MCTO is a disorder with progressive symptoms, an early diagnosis is important to avoid unnecessary investigations and treatments and to provide the proper follow-up.

Sign in / Sign up

Export Citation Format

Share Document