# Síndrome Li-Fraumeni

> Página oficial: https://raras.org/doenca/sindrome-li-fraumeni
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 524 — https://www.orpha.net/en/disease/detail/524
- **CID-10**: C97
- **OMIM**: OMIM:151623 — https://omim.org/entry/151623

## Descrição clínica

É uma condição genética hereditária (transmitida de pais para filhos) que aumenta muito a chance de uma pessoa ter diversos tipos de câncer. Ela é causada por alterações (mutações) no gene TP53. Entre os tipos de câncer que podem surgir estão: câncer de mama, sarcomas de tecidos moles, osteossarcomas (câncer nos ossos), tumores cerebrais, carcinoma adrenocortical (câncer na glândula adrenal) e leucemias.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant

## Sinais e sintomas (41 fenótipos HPO)

- **Carcinoma do plexo coroide** — HPO: HP:0030392 (Ocasional (29-5%))
- **Carcinoma adrenocortical** — HPO: HP:0006744 (Ocasional (29-5%))
- **Glioblastoma multiforme** — HPO: HP:0012174 (Ocasional (29-5%))
- **Linfoma** — HPO: HP:0002665 (Ocasional (29-5%))
- **Neoplasia renal** — HPO: HP:0009726 (Raro (<5%))
- **Coriocarcinoma** — HPO: HP:0100768 (Raro (<5%))
- **Ependimoma** — HPO: HP:0002888 (Ocasional (29-5%))
- **Neoplasia** — HPO: HP:0002664 (Muito frequente (99-80%))
- **Neoplasia de cabeça e pescoço** — HPO: HP:0012288 (Raro (<5%))
- **Mielodisplasia** — HPO: HP:0002863 (Raro (<5%))
- **Câncer de cólon** — HPO: HP:0003003 (Raro (<5%))
- **Melanoma** — HPO: HP:0002861 (Raro (<5%))
- **Rabdomiossarcoma** — HPO: HP:0002859 (Ocasional (29-5%))
- **Osteossarcoma** — HPO: HP:0002669 (Ocasional (29-5%))
- **Neoplasia do reto** — HPO: HP:0100743 (Raro (<5%))
- **Meduloblastoma** — HPO: HP:0002885 (Raro (<5%))
- **Tumor neuroectodérmico primitivo central** — HPO: HP:0030070 (Ocasional (29-5%))
- **Carcinoma de mama** — HPO: HP:0003002 (Frequente (79-30%))
- **Linfoma de Hodgkin** — HPO: HP:0012189 (Raro (<5%))
- **Neoplasia da laringe** — HPO: HP:0100605 (Raro (<5%))
- **Neoplasia do pâncreas** — HPO: HP:0002894 (Raro (<5%))
- **Câncer de estômago** — HPO: HP:0012126 (Ocasional (29-5%))
- **Câncer de próstata** — HPO: HP:0012125 (Raro (<5%))
- **Polipose colorretal** — HPO: HP:0200063 (Ocasional (29-5%))
- **Leucemia** — HPO: HP:0001909 (Ocasional (29-5%))
- **Leucemia linfoblástica aguda** — HPO: HP:0006721 (Raro (<5%))
- **Neoplasia do trato gastrointestinal** — HPO: HP:0007378 (Ocasional (29-5%))
- **Astrocitoma** — HPO: HP:0009592 (Ocasional (29-5%))
- **Neoplasia do pulmão** — HPO: HP:0100526 (Raro (<5%))
- **Linfoma não Hodgkin** — HPO: HP:0012539 (Raro (<5%))
- **Neoplasia testicular** — HPO: HP:0010788 (Raro (<5%))
- **Neoplasia ovariana** — HPO: HP:0100615 (Raro (<5%))
- **Neoplasia do sistema nervoso central** — HPO: HP:0100006 (Ocasional (29-5%))
- **Leucemia mieloide aguda** — HPO: HP:0004808 (Raro (<5%))
- **Carcinoma da tireoide** — HPO: HP:0002890 (Raro (<5%))
- **Sarcoma de tecido mole** — HPO: HP:0030448
- **Neoplasia de próstata** — HPO: HP:0100787
- **Leucemia aguda** — HPO: HP:0002488
- **Adenocarcinoma pulmonar** — HPO: HP:0030078
- **Nefroblastoma** — HPO: HP:0002667
- _...e mais 1 sintomas. Ver https://raras.org/doenca/sindrome-li-fraumeni._

## Genes associados (4)

- **CHEK2** — Serine/threonine-protein kinase Chk2 [Candidate gene tested in]
  - Função: Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also ne
- **CDKN2A** — Cyclin-dependent kinase inhibitor 2A [Candidate gene tested in]
  - Função: Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblas
- **TP53** — Cellular tumor antigen p53 [Disease-causing germline mutation(s) in]
  - Função: Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775
- **MDM2** — E3 ubiquitin-protein ligase Mdm2 [Modifying germline mutation in]
  - Função: E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome (PubMed:29681526). Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apo

## Medicamentos em desenvolvimento (1)

- METFORMIN — Fase Phase 1 (Mitochondrial complex I (NADH dehydrogenase) inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0018875

## Ensaios clínicos ativos (13)

- **NCT01143454** [RECRUITING]: Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System — https://clinicaltrials.gov/study/NCT01143454
- **NCT05126810** [RECRUITING]: Willingness to Participate in a Trial Comparing Standard Genetic Counseling Versus Personalized Genetic Counseling — https://clinicaltrials.gov/study/NCT05126810
- **NCT04541654** [RECRUITING]: Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress — https://clinicaltrials.gov/study/NCT04541654
- **NCT01443468** [RECRUITING]: Clinical and Genetic Studies of Li-Fraumeni Syndrome — https://clinicaltrials.gov/study/NCT01443468
- **NCT03050268** [RECRUITING]: Familial Investigations of Childhood Cancer Predisposition — https://clinicaltrials.gov/study/NCT03050268
- **NCT04982744** [RECRUITING]: Registry of Li Fraumeni and Li Fraumeni Like Syndromes — https://clinicaltrials.gov/study/NCT04982744
- **NCT04367246** [RECRUITING]: Li-Fraumeni Syndrome/TP53 Biobank — https://clinicaltrials.gov/study/NCT04367246
- **NCT06712095** [RECRUITING]: Video Capsule Examination in Patients With Lynch Syndrome — https://clinicaltrials.gov/study/NCT06712095
- **NCT06523582** [RECRUITING]: Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients — https://clinicaltrials.gov/study/NCT06523582
- **NCT06088030** [RECRUITING]: Arsenic Trioxide Combined With Chemotherapy for the Treatment of p53-mutated Pediatric Cancer — https://clinicaltrials.gov/study/NCT06088030

## Doenças relacionadas (por similaridade fenotípica)

- [NÃO RARA NA EUROPA: Câncer colorretal](https://raras.org/doenca/nao-rara-na-europa-cancer-colorretal) — ORPHA:466667 — 10 sintomas em comum
- [Sarcoma de tecidos moles](https://raras.org/doenca/sarcoma-de-tecidos-moles) — ORPHA:3394 — 10 sintomas em comum
- [Síndrome neurológico paraneoplásico](https://raras.org/doenca/sindrome-neurologico-paraneoplasico) — ORPHA:36388 — 10 sintomas em comum
- [Síndrome de deficiência constitucional da reparação dos erros de emparelhamento](https://raras.org/doenca/sindrome-de-deficiencia-constitucional-da-reparacao-dos-erros-de-emparelhamento) — ORPHA:252202 — 10 sintomas em comum
- [Síndrome Werner](https://raras.org/doenca/sindrome-werner) — ORPHA:902 — 9 sintomas em comum
- [Linfo-histiocitose hemofagocítica adquirida, associada a doença maligna, adquirida](https://raras.org/doenca/linfo-histiocitose-hemofagocitica-adquirida-associada-a-doenca-maligna-adquirida) — ORPHA:158057 — 8 sintomas em comum
- [Linfo-histiocitose hemofagocítica secundária](https://raras.org/doenca/linfo-histiocitose-hemofagocitica-secundaria) — ORPHA:158041 — 8 sintomas em comum
- [Câncer colorretal hereditário sem polipose](https://raras.org/doenca/cancer-colorretal-hereditario-sem-polipose) — ORPHA:443909 — 8 sintomas em comum
- [Síndrome Bloom](https://raras.org/doenca/sindrome-bloom) — ORPHA:125 — 8 sintomas em comum
- [Síndrome aneuploidia variada em mosaico](https://raras.org/doenca/sindrome-aneuploidia-variada-em-mosaico) — ORPHA:1052 — 8 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

---

**Citação sugerida**: Raras.org — Síndrome Li-Fraumeni. Disponível em: https://raras.org/doenca/sindrome-li-fraumeni
**Formato HTML**: https://raras.org/doenca/sindrome-li-fraumeni
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=524