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Case Reports
. 2025 Oct 26;17(10):e95448.
doi: 10.7759/cureus.95448. eCollection 2025 Oct.

A Deadly Duet: Fanconi Anemia (FA) With Head and Neck Cancer

Chaithanya D  1 , Lakshmi Js  1 , Christopher John  1 , Satish Srinivas K  1
Affiliations
Case Reports

A Deadly Duet: Fanconi Anemia (FA) With Head and Neck Cancer

Chaithanya D et al. Cureus. .

Abstract

Fanconi anemia (FA) is a rare, inherited disorder characterized by chromosomal instability, bone marrow failure, and predisposition to malignancies, including head and neck squamous cell carcinoma (HNSCC). The treatment of HNSCC in FA is challenging due to the extreme sensitivity of these patients to DNA-damaging agents. A 39-year-old male with FA presented with odynophagia and neck swelling. Examination revealed a mass at the base of the tongue (BOT) with bilateral cervical lymphadenopathy. Histopathology confirmed moderately differentiated squamous cell carcinoma (MD-SCC) (p16 negative). He underwent induction chemotherapy but developed severe myelosuppression. In view of the unusual clinical presentation, a mitomycin stress test was performed, confirming FA. Consequently, further chemotherapy was deferred, and radiotherapy was delivered with careful monitoring and supportive care. The patient achieved a complete metabolic response post-treatment. The case highlights the importance of radiation treatment in FA patients with exaggerated chemotherapy toxicities and the need for tailored management in this patient population.

Keywords: chemotherapy-induced myelosuppression; conventional radiotherapy; fanconi anemia; head and neck cancer; inherited disorder.

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Conflict of interest statement

Human subjects: Informed consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. Axial PET fusion done prior to treatment.
The imaging shows a fluorodeoxyglucose (FDG)-avid, enhancing lesion involving the base of the tongue, vallecula, and epiglottis on the left (yellow arrow), as well as enlarged bilateral level 2 cervical lymph nodes (white arrows).
Figure 2
Figure 2. Axial contrast CT done prior to treatment.
The imaging shows a fluorodeoxyglucose (FDG)-avid, enhancing lesion involving the base of the tongue, vallecula, and epiglottis on the left (yellow arrow), as well as CT-enhancing, enlarged bilateral level 2 cervical lymph nodes (white arrows).
Figure 3
Figure 3. Axial CT slice of a head and neck intensity modulated radiotherapy (IMRT) plan.
The dose distribution shows conformal coverage of the primary tumor and nodal planning target volume (PTVs) with sparing adjacent organs at risk.
Figure 4
Figure 4. Sagittal CT slice of the same plan.
The isodose wash demonstrates adequate target coverage with sharp dose fall-off to protect the spinal cord and surrounding normal structures.
Figure 5
Figure 5. Axial FDG PET-CT fusion of the head and neck region done post-treatment.
The imaging shows complete resolution with no fluorodeoxyglucose (FDG) uptake of the primary lesion (yellow arrow) and bilateral cervical lymph node region (white arrows), suggestive of complete treatment response.
Figure 6
Figure 6. Axial contrast-enhanced CT of the head and neck region.
There is no obvious mass or thickening seen in the primary region (yellow arrow) and no bilateral cervical lymphadenopathy (white arrows).
See this image and copyright information in PMC

References

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