An Emergency Department Patient With Pharyngitis and Final Diagnosis of Rare T-cell Acute Lymphoblastic Leukemia With a Copy of Retinoic Acid Receptor Alpha Gene.

A 21-year-old female with a past medical history of chronic tonsilitis presented to the emergency department (ED) with a sore throat and swelling in her neck for a two-week duration. The patient was noted to have pancytopenia with blasts on peripheral blood differential, so she was transferred for admission at an outside facility for further evaluation and management. Bone marrow biopsy revealed T-cell acute lymphoblastic leukemia (ALL) with 39.5% blasts. CALGB 10403 treatment protocol was initiated two days after her presentation to the ED. The patient also had an extra copy of the retinoic acid receptor alpha (RARA) gene. One year later, the patient was in remission, and cytogenetic results showed a normal female karyotype indicating that the patient no longer had ALL or RARA gene abnormalities. While a sore throat can be a common chief complaint in the ED, ED providers need to keep a broad differential as there are many serious and potentially life-threatening etiologies such as T-cell ALL. T-cell ALL diagnosis is established with the presence of >20% of lymphoblasts in the bone marrow or peripheral blood draw. Cytogenetic changes play a significant role in determining the prognostic factors and management of ALL.