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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
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  • Guoqian He,
  • Ming-yan Jiang,
  • Rong Xu,
  • Yi-ling Dai,
  • Li-li Luo,
  • Ju Gao,
  • Xia GUO
Guoqian He
Sichuan University West China Second University Hospital
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Ming-yan Jiang
Sichuan University West China Second University Hospital
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Rong Xu
Sichuan University West China Second University Hospital
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Yi-ling Dai
Sichuan University West China Second University Hospital
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Li-li Luo
Sichuan University West China Second University Hospital
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Ju Gao
Sichuan University West China Second University Hospital
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Xia GUO
Sichuan University West China Second University Hospital
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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.