RESUMO
Fanconi anemia is a rare disorder resulting from defects in genes responsible for DNA damage responses. It is characterized by congenital anomalies, aplastic anemia, and a predisposition to cancer. Currently, hematopoietic stem cell transplant (HSCT) is the only curative treatment available for bone marrow failure; however, HSCT increases oral squamous cell carcinoma (OSCC) risk. Here we report the case of a patient diagnosed with Fanconi anemia in childhood who was treated with HSCT and later diagnosed with multiple OSCCs during a 12-year follow-up. Despite multiple surgical interventions and radiotherapy regimens, the patient`s health deteriorated. Management of individuals with Fanconi anemia is challenging and must be provided by a multidisciplinary healthcare team to ensure better staging, treatment planning, and coordination.
Assuntos
Carcinoma de Células Escamosas , Anemia de Fanconi , Neoplasias de Cabeça e Pescoço , Transplante de Células-Tronco Hematopoéticas , Neoplasias Bucais , Carcinoma de Células Escamosas/terapia , Anemia de Fanconi/complicações , Anemia de Fanconi/terapia , Seguimentos , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Neoplasias Bucais/terapia , Fatores de Risco , Carcinoma de Células Escamosas de Cabeça e Pescoço/complicaçõesRESUMO
BACKGROUND: Tongue squamous cell carcinoma (SCC) contains a cell subpopulation referred to as cancer stem cells (CSCs), which are responsible for tumor growth, metastasis, and resistance to chemotherapy and radiotherapy. The CSC markers have been used to isolate these cells and as biomarkers to predict overall survival. METHODS: The CSC markers CD44, NANOG, OCT4, and BMI1 were investigated using reverse transcriptase-quantitative polymerase chain reaction (RT-qPCR) and immunohistochemistry and correlated with clinicopathological parameters. RESULTS: The CD44 overexpression was associated with disease-related death (P = 0.02) and worst prognosis. NANOG was upregulated in nontumoral margins and associated with T1/T2 classification, lymph node metastasis, and worst prognosis. OCT4 was associated with lymph node metastasis and worst overall survival. BMI1 and CD44v3 were overexpressed in tongue SCC. Coexpression of CD44++ /NANOG++ was associated with worst overall survival when compared with patients with CD44-/+ /NANOG-/+ . CONCLUSION: The CSC markers might play an important role not only in CSC trait acquisition but also in tongue SCC development and progression.