Li-Fraumeni Syndrome and Whole-Body MRI Screening: Screening Guidelines, Imaging Features, and Impact on Patient Management

Consul, Nikita; Amini, Behrang; Ibarra-Rovira, Juan J.; Blair, Katherine J.; Moseley, Tanya W.; Taher, Ahmed; Shah, Komal; Elsayes, Khaled M.

doi:10.2214/ajr.20.23008

Cited by 25 publications

(20 citation statements)

References 60 publications

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“…It is in line with this study, as the NGS data demonstrated the TMB value was middle to high, i.e., 10.11 2019) revealed that genetic background, especially mutation of tumor suppressor gene TP53, BRCA1-associated protein 1 (BAP1) (Cheung et al, 2015) or partner and localizer of BRCA2 (PALB2) (Schrader et al, 2016) played a crucial role in the development of MPMTs. Germline TP53 mutation is closely associated with Li-Fraumeni Syndrome, characterized by a high frequency of various malignancies (Consul et al, 2020). In the patient, five different TP53 mutations were detected in the patient's three tumors samples.…”

Section: Discussionmentioning

confidence: 90%

Case Report: Triple Primary Malignant Tumors of the Esophagus, Stomach, and Colon in a Patient With Genetic Analysis

Zhan

Song

et al. 2021

Front. Genet.

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The incidence of multiple primary malignant tumors (MPMTs) has increased greatly with the progress of tumor diagnosis and therapy technology. However, triple primary cancer is still very rare, and its genetic change is not clear yet. This case report described a 70-year-old Chinese male patient with triple primary cancers of the esophagus, stomach and right-sided colon. Pathological examination confirmed that each malignant tumor developed independently. Next-generation sequencing (NGS) using a 599-gene panel revealed five TP53 mutations in three tumor tissues. These variations might contribute to development of the triple primary malignant tumors in the patient. The patient underwent laparoscopic feeding jejunostomy and postoperative radiotherapy for synchronous esophageal and gastric carcinomas. Then, he underwent laparoscopic-assisted resection of right-sided colonic cancer and lysis of abdominal adhesions. By the time of submitting this manuscript, the patient had been well and no sign of recurrence or metastasis had been observed. To the best of our knowledge, this case is the first one to clarify the genetic abnormalities of triple primary cancers of esophagus, stomach and colon in a Chinese patient. It may contribute to understanding the molecular pathogenesis of multiple primary digestive malignancies and providing valuable treatment strategies for the similar patients in the future.

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Section: Discussionmentioning

confidence: 90%

Case Report: Triple Primary Malignant Tumors of the Esophagus, Stomach, and Colon in a Patient With Genetic Analysis

Zhan

Song

et al. 2021

Front. Genet.

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“…Las guías Europeas del 2020 recomiendan realizar en los niños con la variante TP53, examen clínico y ecografía abdominal cada seis meses, Imágenes de Resonancia Magnética Corporal Total (IRMCT) anual y cerebral desde el primer año de vida. En adultos, examen clínico anual, IRMCT, IMR de mama en mujeres de 2-65 años e IMR cerebral hasta los 50 años (15,16).…”

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Síndrome de Li-Fraumeni

et al. 2021

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El síndrome de Li-Fraumeni (SLF) es un trastorno autosómico dominante hereditario con predisposición al cáncer, está asociado con anomalías en el gen de la proteína tumoral p53 (TP53), que se manifiesta por una amplia gama de neoplasias malignas que aparecen a una edad temprana. Se expone al caso de un adulto joven en quien presentaremos este diagnóstico, y se describen las perspectivas terapéuticas en investigación.

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“…We mention the importance of a general picture in LFS, which represents a standard multidisciplinary approach, both in terms of diagnosis and therapy (1). Yearly magnetic resonance imaging (MRI) is recommended for tumor screening (13). Whole-body sequences are mostly useful and, since the technique is not radiant, it is feasible in the pediatric population (14).…”

Section: Tumorigenesis In Li-fraumeni Syndromementioning

confidence: 99%

Melanoma in patients with Li‑Fraumeni syndrome (Review)

et al. 2021

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Li-Fraumeni syndrome (LFS) is a cancer-prone, autosomal dominant syndrome caused by underlying germline gene mutations of TP53, a tumor-suppressor gene encoding the p53 protein with a major role in apoptosis, DNA repair and cell cycle regulation. Cumulative cancer incidence for LFS patients by the age of 70 years is 80-100%, mostly involving adrenocortical carcinoma, brain tumors, bone and soft tissue sarcomas, leukemia and female breast cancer from the age of 20 years. Dominant negative TP53 variant is correlated with an increased tumorigenesis risk in LFS. Sporadic TP53 mutations are related to almost half of global cancers since p53 in addition to p73 protein represent essential players in anticancer cellular protection. Epidemiological aspects concerning skin cancers, especially malignant melanoma (MM), in LFS are less clear. A low level of statistical evidence demonstrates LFS cases with pediatric MM, multiple MM, spitzoid MM, atypical presentations, mucosal and uveal MM. Retrospective cohorts indicate a higher cumulative risk than the general population by the age of 70 years for MM and basal cell carcinoma. Non-syndromic and syndromic TP53 mutations are a major pathway of metastasis, including MM. In LHS, an important level of awareness involves skin cancers despite not being a part of the typical malignancy-containing picture. Additional data are crucially needed. However, at least one dermatologic control is a step in the multidisciplinary panel of surveillance of these patients; but in cases with benign and pre-malign pigmentations, serial dermatoscopy and full body photography are recommended for early melanoma detection in order to improve the prognosis and to reduce the overall malignancy burden. Contents 1. Introduction 2. Aim of the review 3. Genetic background: TP53 mutations 4. Tumorigenesis in Li-Fraumeni syndrome 5. Melanoma in patients with Li-Fraumeni syndrome 6. Future considerations 7. Conclusions

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Li-Fraumeni Syndrome and Whole-Body MRI Screening: Screening Guidelines, Imaging Features, and Impact on Patient Management

Cited by 25 publications

References 60 publications

Case Report: Triple Primary Malignant Tumors of the Esophagus, Stomach, and Colon in a Patient With Genetic Analysis

Case Report: Triple Primary Malignant Tumors of the Esophagus, Stomach, and Colon in a Patient With Genetic Analysis

Síndrome de Li-Fraumeni

Melanoma in patients with Li‑Fraumeni syndrome (Review)

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