TY - JOUR
T1 - Primary Graft Failure but Treatment Success
T2 - A Case of Reversion to Heterozygosity after Allogeneic Hematopoietic Cell Transplantation with Autologous Hematopoietic Recovery in a Child with CBL -related Juvenile Myelomonocytic Leukemia
AU - Oshrine, Benjamin
N1 - Publisher Copyright:
© 2021 Lippincott Williams and Wilkins. All rights reserved.
PY - 2021/4
Y1 - 2021/4
N2 - Juvenile myelomonocytic leukemia (JMML) typically requires allogeneic hematopoietic cell transplantation with full donor chimerism for cure. Certain genetic subtypes, including JMML due to germline mutations in CBL, can have a more indolent course. We describe a young male patient with CBL-related JMML who experienced primary graft failure after allogeneic hematopoietic cell transplantation. Despite autologous recovery, the resulting hematopoietic tissue did not harbor the original homozygous CBL mutations, due to reversion of prior loss of heterozygosity of the 11q chromosomal region. The patient remains disease free without further leukemia-directed therapy.
AB - Juvenile myelomonocytic leukemia (JMML) typically requires allogeneic hematopoietic cell transplantation with full donor chimerism for cure. Certain genetic subtypes, including JMML due to germline mutations in CBL, can have a more indolent course. We describe a young male patient with CBL-related JMML who experienced primary graft failure after allogeneic hematopoietic cell transplantation. Despite autologous recovery, the resulting hematopoietic tissue did not harbor the original homozygous CBL mutations, due to reversion of prior loss of heterozygosity of the 11q chromosomal region. The patient remains disease free without further leukemia-directed therapy.
KW - CBL
KW - hematopoietic cell transplantation
KW - juvenile myelomonocytic leukemia
KW - primary graft failure
UR - http://www.scopus.com/inward/record.url?scp=85103473955&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85103473955&partnerID=8YFLogxK
U2 - 10.1097/MPH.0000000000001740
DO - 10.1097/MPH.0000000000001740
M3 - Article
C2 - 32032248
AN - SCOPUS:85103473955
SN - 1077-4114
VL - 43
SP - e426-e428
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
IS - 3
ER -