Aggressive Head and Neck Squamous Cell Carcinoma in the Setting of GATA2 Deficiency

GATA2 deficiency is a rare genetic disorder associated with hematologic, infectious, and neoplastic complications. We report a case of a patient with GATA2 deficiency who developed aggressive squamous cell carcinoma (SCC) of the head and neck, an atypical manifestation of this condition.

A 34-year-old Hispanic male, a nonsmoker, presented with a large, exophytic right facial mass. Biopsy revealed HPV-negative SCC. Computed tomography (CT) showed a right periorbital mass invading the nasal cavity and a contralateral mass in the left parotid extending into the masticator space. The patient underwent extensive surgery, including right orbital exenteration, total rhinectomy, partial glossectomy, left radical parotidectomy, excision of the left mandibular condyle, and bilateral neck dissections. Reconstruction included a left temporalis muscle flap, internal fixation of the left zygoma, intermaxillary fixation, and a staged anterolateral thigh (ALT) free flap for the right facial defect. He developed postoperative Pseudomonas surgical site infections in the left face and ALT donor site and was treated with antibiotics and antifungals based on intraoperative culture results. The patient's postoperative course involved multiple interventions to address complications and support recovery. He developed bilateral local and regional recurrences rapidly after surgery and ultimately elected for palliative care.

Due to the aggressive nature of this case in a young, nonsmoking patient, combined with the atypical infections, genetic testing was performed for immunodeficiency syndromes. He was ultimately diagnosed with GATA2 deficiency.

This case highlights the aggressive nature of SCC in the context of GATA2 deficiency and underscores the importance of genetic testing in patients with unusual malignancy presentations and suspected immunodeficiency. Genetic testing in the patient's children allows for early diagnosis of GATA2 deficiency and provides an opportunity for curative intervention through hematopoietic stem cell transplantation.