Introduction/Background*Fanconi Anemia is the most frequent cause of bone marrow failure genetically inherited. Patients may have short stature, microphthalmia, skeletal deformities, spots of coffee with milkand cardiac, renal and urinary malformations. One third of the cases are asymptomatic and the presence of pancytopenia is observed as an isolated manifestation.Carriers have 50 times greater predisposition for cancer of the head and neck, esophagus, gastrointestinal tract and vulva. Regarding to head and neck and gynecological squamous cell carcinoma, this incidence is up to 500 times higher than general population, and clinical presentation are more aggressive and disseminated at the time of diagnosis.
Methodology Case report of a young female with Fanconi anemia who was diagnosed with squamous cell carcinoma of the vulva in advanced stage with unfavorable evolution.
Result(s)*Woman, 21 years old, nullipara, diagnosed with Fanconi anemia since 9 years old, started sexual activity at 18, with only 1 sexual partner since then. Admitted to the Gynecological emergency department with growth lesion 2 months ago, in the right labium majus. Physical examination reveals 8 cm lesion occupying the length of the right labium with a necrotic and friable surface associated with 4 cm ipsilateral inguinal lymph node enlargement. Incisional biopsy showed squamous cell carcinoma, moderately differentiated, with keratinizing foci and basaloid areas, ulcerated. Immunohistochemistry was positivity for p16 and p53 demonstrating effects of HPV infection. Cytology of the lymph node aspirate was positive for metastasis.MRI showed a vulvar lesion restricted to the superficial planes, but the presence of bilateral inguinal lymphondomegaly, at the right side next to common femoral vessels and pectinous muscle, stage IIIC.
Primary chemotherapy was chosen as the initial therapeutic approach to decrease the tumor volume and, subsequently, to allow a vulvar surgical procedure with palliative/hygienic intention. After the first cycle of chemotherapy (platinum-based), the patient had a fast-progressing Stevens Johns Syndrome, culminating in death.
Conclusion*Patients with Fanconi anemia should be screened more severe for gynecological cancer, especially after begining of sexual activity, which should includes Pap-Smear, genitoscopya and research for high-risk HPV. Precursor lesions should be treated vigorously as soon as they are diagnosed.
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