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Open AccessCase Report

Clonal Evolution of B-Cell Acute Lymphoblastic Leukemia with del(9)(p13p21) into Mixed Phenotype Acute Leukemia Presenting as an Isolated Testicular Relapse

1
Department of Pediatrics, Aflac Cancer and Blood Disorders Center, Children’s Healthcare of Atlanta and Emory University, Atlanta, GA 30322, USA
2
Cancer and Blood Disorders Center, Children’s Minnesota, Minneapolis, MN 55404, USA
3
Department of Pathology, Children’s Healthcare of Atlanta, Atlanta, GA 30322, USA
4
Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA 30322, USA
*
Author to whom correspondence should be addressed.
Reports 2019, 2(3), 18; https://doi.org/10.3390/reports2030018
Received: 27 June 2019 / Revised: 12 July 2019 / Accepted: 14 July 2019 / Published: 15 July 2019
(This article belongs to the Special Issue Leukaemia: Diagnosis and Treatment)
Lineage switch in acute leukemias is a well-reported occurrence; however, most of these cases involve a switch from either lymphoid to myeloid or myeloid to lymphoid lineage. Here, we report a case of a 14-year-old male with B-cell acute lymphoblastic leukemia (B-ALL) who initially responded well to standard chemotherapy but then later developed mixed phenotype acute leukemia (MPAL) at relapse, likely reflecting a clonal evolution of the original leukemia with a partial phenotypic shift. The patient had a del(9)(p13p21) in his leukemia blasts at diagnosis, and the deletion persisted at relapse along with multiple additional cytogenetic aberrations. Interestingly, the patient presented with an isolated testicular lesion at relapse, which on further analysis revealed both a lymphoid and myeloid component. Unfortunately, the patient did not respond well to treatment at relapse and eventually succumbed to his disease. To our knowledge, an isolated extramedullary MPAL at relapse in a patient with previously diagnosed B-ALL has not been reported in the literature before. View Full-Text
Keywords: B-ALL; MPAL; clonal evolution; del(9)(p13p21) B-ALL; MPAL; clonal evolution; del(9)(p13p21)
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Miller, L.H.; Park, S.I.; Saxe, D.; Lew, G.; Raikar, S.S. Clonal Evolution of B-Cell Acute Lymphoblastic Leukemia with del(9)(p13p21) into Mixed Phenotype Acute Leukemia Presenting as an Isolated Testicular Relapse. Reports 2019, 2, 18.

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