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Extramedullary blastic transformation in a child with adult chronic myelocytic leukemia
P J Van Dijken1, M Niazi, R H al-Asiri
1Department of Pediatric Oncology/Hematology, University Children's Hospital for Children, Utrecht, The Netherlands.
Insights
This study details a rare case of Philadelphia chromosome-positive chronic myelocytic leukemia (Ph+ CML) in a young child. The leukemia presented as a cervical chloroma, an extramedullary tumor, suggesting inflammation may trigger blastic transformation.
Area of Science:
- Pediatric Hematology Oncology
- Cancer Genetics
- Leukemia Research
Background:
- Chronic myelocytic leukemia (CML) is a myeloproliferative neoplasm characterized by the Philadelphia chromosome (Ph).
- While CML typically affects adults, pediatric cases are rare and present unique clinical challenges.
- Chloromas, or granulocytic sarcomas, are extramedullary tumors of myeloid blasts, often indicative of disease progression.
Observation:
- A 4-year-old child presented with a unilateral cervical chloroma of 5 months duration, preceded by local inflammation.
- Hematological and bone marrow analyses confirmed CML in the chronic phase.
- Cytogenetic analysis revealed the classical Ph translocation t(9;22) along with an additional clone exhibiting complex aberrations, predominantly in the chloroma.
Findings:
- This case represents the first documented instance of Ph+ CML in a young child with an isolated chloroma as extramedullary blastic transformation.
- The presence of a distinct clone with additional chromosomal abnormalities in the chloroma suggests clonal evolution.
- The chloroma's localization following an inflammatory reaction raises questions about microenvironmental influences on leukemic transformation.
Implications:
- This case highlights the importance of considering extramedullary manifestations in pediatric CML.
- The findings suggest that local inflammatory processes may play a role in inducing or promoting extramedullary blastic transformation in CML.
- Further research into the interplay between inflammation and leukemogenesis in CML is warranted, particularly in pediatric populations.
Abstract:
We report a case of Philadelphia chromosome positive (Ph+) chronic myelocytic leukemia (CML) in a 4-year-old child presenting with a one-sided cervical chloroma (granulocytic sarcoma) of 5 months duration preceded by an inflammatory reaction in the same area. Blood and bone marrow were consistent with CML in chronic phase. Cytogenetic analysis of blood, bone marrow and chloroma showed, in addition to the classical Ph+ cell line, another clone with additional aberrations: 50,XY,+Y,+8,t(9;22)(q34;q11), +19,+21, present predominantly in the chloroma. In conclusion, this is the first report of a Ph+ CML in a young child with a chloroma as an isolated extramedullary localization of blastic transformation. It is hypothesized that local events such as inflammation might be inductive of extramedullary blastic transformation.