Li-Fraumeni Syndrome-related Malignancies Involving the Genitourinary Tract: Review of a Single-institution Experience

Murray, Katie S.; Spaliviero, Massimiliano; Tonorezos, Emily S.; Lacouture, Mario E.; Tap, William D.; Oeffinger, Kevin C.; Vargas, Hebert Alberto; Eastham, James A.

doi:10.1016/j.urology.2018.06.008

Urology

2018

DOI: 10.1016/j.urology.2018.06.008

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Li-Fraumeni Syndrome-related Malignancies Involving the Genitourinary Tract: Review of a Single-institution Experience

Katie S. Murray

Massimiliano Spaliviero

Emily S. Tonorezos

et al.

Abstract: Continued follow-up of LFS cancer patients aimed at the determination of optimal screening, management, and surveillance protocols is recommended and may result in longer survival expectations.

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Cited by 3 publications

References 26 publications

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Vincristine

2018

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A 17-year-old boy developed neuropathy during treatment with vincristine for diffuse large B-cell carcinoma. The boy was diagnosed with diffuse large B-cell carcinoma in mid-2004. He was started on R-CHOP regimen, which included rituximab, cyclophosphamide, doxorubicin [doxorubicin hydrochloride], prednisolone and vincristine [dosage and route not stated]. However, he developed vincristine-related neuropathy [time to reaction onset and outcome not stated]. The boy was started on RICE chemotherapy, which included rituximab, ifosfamide, carboplatin and etoposide in September 2004. Later, he developed episodes of deep vein thrombosis and diagnosed with factor V Leiden deficiency (Li-Fraumeni syndrome). He developed Li-Fraumeni syndromerelated malignancies. In December 2015, he died due to the deterioration of pelvic angiosarcoma.

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Vincristine

2018

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Germline predisposition to genitourinary rhabdomyosarcoma

Schneider¹,

Cost²,

Schultz³

et al. 2020

Transl Androl Urol

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Multiple genetic conditions predispose to the development of rhabdomyosarcoma. Much of the literature on rhabdomyosarcoma in genetic syndromes does not sub-divide the location or the pathology of the sarcomas. Therefore, there are limited data on genitourinary specific associations with certain genetic syndromes. We summarize, here, the primary differential considerations for rhabdomyosarcoma of the genitourinary system. Primary considerations include DICER1 pathogenic variation, Li-Fraumeni syndrome, constitutional mismatch repair deficiency, mosaic variegated aneuploidy, neurofibromatosis type 1, Noonan syndrome, other RASopathies, Costello syndrome, and Beckwith-Wiedemann syndrome. Some conditions may present with specific pathological, clinical and/or family history features, but for others, the genitourinary tumor may be the only presenting sign at the time of diagnosis. Genetic evaluation with counseling and/or testing may help identify an underlying tumor predisposition. This manuscript serves as an introduction to germline considerations for children with genitourinary rhabdomyosarcoma.

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Uma Revisão Sobre O Carcinoma Adrenal Associado À Síndrome De Li-Fraumeni

Araújo,

Tanios,

Rosa

et al. 2024

Rev. Contemp.

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A síndrome de Li-Fraumeni (SLF) foi descrita pela primeira vez em 1969 e se caracteriza por ser uma síndrome autossômica dominante, na qual o paciente possui predisposição a desenvolver diversos tipos de cânceres em razão de mutações no gene TP53. O carcinoma adrenal (CAA) é um tipo de tumor raro, afetando uma pessoa a cada um milhão. Porém, tratando-se da SLF, o CAA já passa a se tornar uma característica marcante. O rastreio de pacientes com a SLF é importante e pode evitar o desenvolvimento de uma síndrome de Cushing pelo tumor ou que ele se espalhe com metástases e, consequentemente, aumente demasiadamente as chances desse indivíduo evoluir para a morte. A presente revisão busca, dessa forma, abordar o carcinoma adrenal e a sua relação com a síndrome de Li-Fraumeni, já que as duas condições se relacionam e apresentam um risco de causar a morte do paciente. Para isso, realizou-se uma revisão sistemática na base de dados PubMed entre 2019 e 2024 que evidenciou a importância dessas condições inclusive no Brasil. O diagnóstico é com base na clínica, exames de imagem e o tratamento feito com base na retirada do tumor. Os profissionais da saúde precisam estar atentos quanto a prevalência desse tumor nos pacientes com a SLF e, assim, cuidar não apenas do doente naquele momento, mas também assegurar o bem-estar familiar e rastrear antecipadamente esse e outros cânceres malignos aos quais a pessoa está sujeita.

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Li-Fraumeni Syndrome-related Malignancies Involving the Genitourinary Tract: Review of a Single-institution Experience

Abstract: Continued follow-up of LFS cancer patients aimed at the determination of optimal screening, management, and surveillance protocols is recommended and may result in longer survival expectations.

Cited by 3 publications

References 26 publications

Vincristine

Vincristine

Germline predisposition to genitourinary rhabdomyosarcoma

Uma Revisão Sobre O Carcinoma Adrenal Associado À Síndrome De Li-Fraumeni

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