Therapeutic challenges of recurrent oral squamous cell carcinomas in fanconi anemia: a case report

Fanconi anemia (FA) is a rare, inherited recessive syndrome characterized by progressive bone marrow failure and a predisposition to developing malignant neoplasms. A male patient diagnosed with Fanconi anemia underwent a haploidentical hematopoietic cell transplantation (HCT) at 10 years of age. Eleven years later, he developed his first malignant lesion on the lower lip. Unfortunately, the patient experienced rapid recurrences of squamous cell carcinoma (SCC), initially in the oral cavity, with subsequent progression to the maxillary sinus, sphenoid wing, and right orbital floor. The aggressive nature of the disease, coupled with limited treatment options, ultimately led to a poor prognosis and the patient subsequently passed away. This case underscores the severity of Fanconi anemia, demonstrated by the emergence of multiple lesions in diverse locations and their rapid progression in a young patient. It highlights the complexity and significant challenges in managing malignant lesions in patients with FA.

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Publication Details

Journal
JORDI - Journal of Oral Diagnosis
Published
2025-10-31
DOI
https://doi.org/10.5327/10.5327/2525-5711.378
Primary Topic
DNA Repair Mechanisms
Type
article
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article

Therapeutic challenges of recurrent oral squamous cell carcinomas in fanconi anemia: a case report

Juliana Lucena Schussel, Camila Adriane Leffa Rosa, A. Guimarães, Waleska Tychanowicz Kolodziejwski et al.
JORDI - Journal of Oral Diagnosis
DNA Repair Mechanisms
article

Therapeutic challenges of recurrent oral squamous cell carcinomas in fanconi anemia: a case report

Juliana Lucena Schussel, Camila Adriane Leffa Rosa, A. Guimarães, Waleska Tychanowicz Kolodziejwski, Priscila de Mattos QUEIROZ
article en

Abstract

Fanconi anemia (FA) is a rare, inherited recessive syndrome characterized by progressive bone marrow failure and a predisposition to developing malignant neoplasms. A male patient diagnosed with Fanconi anemia underwent a haploidentical hematopoietic cell transplantation (HCT) at 10 years of age. Eleven years later, he developed his first malignant lesion on the lower lip. Unfortunately, the patient experienced rapid recurrences of squamous cell carcinoma (SCC), initially in the oral cavity, with subsequent progression to the maxillary sinus, sphenoid wing, and right orbital floor. The aggressive nature of the disease, coupled with limited treatment options, ultimately led to a poor prognosis and the patient subsequently passed away. This case underscores the severity of Fanconi anemia, demonstrated by the emergence of multiple lesions in diverse locations and their rapid progression in a young patient. It highlights the complexity and significant challenges in managing malignant lesions in patients with FA.

JORDI - Journal of Oral DiagnosisVol. 10
Universidade Federal do Paraná (BR)
Openalex Percentile: Top 72%
DNA Repair Mechanisms
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