Oral Tongue Cancer in a Patient with Fanconi Anemia: A Case Report and Literature Review

Abstract

Purpose

Fanconi anemia (FA) is a rare genetic disorder characterized by congenital anomalies, progressive bone marrow failure and high susceptibility to solid tumors, especially head and neck squamous cell carcinoma (HNSCC). Management of FA patients with head and neck cancer is a challenge due to increased risk of surgery, poor tolerance of chemotherapy, and severe myelotoxicity of radiotherapy.

Patients and Methods

We present a case of a 33-year-old man with carcinoma of oral tongue (T1N2M0), who experienced prolonged and profound bone marrow failure as a consequence of concurrent cisplatin/radiation. The young patient who developed HNSCC without risk factors, the myelotoxicity after exposure to platinum-based agent cisplatin and the further evaluation of phenotypic characteristics raised suspicion of FA. Whole exome sequencing performed for the patient and parents ultimately established the diagnosis of FA.

Results

Genetic testing in 23 FANC genes revealed two novel heterozygous mutations, c.367C>T and c.3971_3972delCGinsTT in FANCA gene of the patient, which were inherited from his father and mother, respectively. Radiotherapy with reduced dose has successfully alleviated the symptoms of tumor invasion and progression, and the radiation-related side effects were acceptable. Unfortunately, the patient eventually died of locoregional disease progression.

Conclusion

This case highlights the importance of considering the diagnosis of FA in young patients who develop HNSCC in the absence of risk factors, thus permitting more effective oncological treatment strategies and improved outcomes. In conclusion, any decision on different modalities of management in such patients should be based on a balance between locoregional control and therapeutic toxicity.

Keywords:

• fanconi anemia
• radiotherapy
• cisplatin
• head and neck squamous cell carcinoma
• toxicity

Acknowledgments

We thank all of our colleagues who have contributed to this study.

Abbreviations

FA, fanconi anemia; HNSCC, head and neck squamous cell carcinoma; CT, computer tomography; DCE-MRI, dynamic contrast-enhanced magnetic resonance imaging; NCCN, National Comprehensive Cancer Network; IMRT, intensity modulated radiation therapy; GTV, gross tumor volume; GTVln, gross tumor volume of lymph nodes; CTV, clinical target volume; CTVln, clinical target volume of lymph nodes; GTVlnL, gross tumor volume of left lymph nodes; GTVlnR, gross tumor volume of right lymph nodes; RTOG, Radiation Therapy Oncology Group; IFAR, International Fanconi Anemia Registry; FDA, Food and Drug Administration; EGFR, epidermal growth factor receptor; OS, overall survival; TKIs, tyrosine kinase inhibitors; ICIs, immune checkpoint inhibitors; GvHD, graft-versus-host disease.

Ethics Approval and Informed Consent

This study was in line with the Declaration of Helsinki and was approved by the Ethics Committee of Sichuan Cancer Hospital & Institute.

Consent for Publication

The patient’s parents have provided the written informed consent for this article.

Author Contributions

Genetic testing: DS, YW and DF; Writing-original draft: DS and YW; Management of the patient: ZS, ZG, ZP and SY; Resources and Funding acquisition: LJ and LS; Writing-review & editing: DS and LS. All authors made substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data; took part in drafting the article or revising it critically for important intellectual content; agreed to submit to the current journal; gave final approval of the version to be published; and agree to be accountable for all aspects of the work.

Disclosure

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.