Co-occurrence of TCF3-PBX1 gene fusion, and chromosomal aberration in a
Pediatric acute lymphoblastic leukemia with Clitoris Swelling: a case
report and literature review
Abstract
Localised soft tissue swelling as initial presentation in child acute
lymphoblastic leukemia (ALL) is extremely rare. We first report one case
presenting with clitoris swellings. She was done for an abdominal biopsy
from the retroperitoneal mass suspicious of neuroblastoma. Follow-up,
she was eventually diagnosed with precursor B cell ALL by bone marrow
biopsy, with TCF3-PBX1 fusion gene and additional chromosomal
aberrations. After chemotherapy, although the girl had transiently
clinical remission, the bone marrow aspirate indicated a poor outcome.
Thus, this highly localised presentation is unusual and would hopefully
inform clinicians to have a high index of suspicion for ALL.