A case of juvenile myelomonocytic leukaemia (JMML) associated with a chromosomal translocation (1;5) is described. Initial cytoreductive therapy failed to control the disease. In the absence of a matched family or unrelated donor, a Dexter-type long-term bone marrow culture (LTBMC) was established. The LTBMC showed preferential growth of normal stem cells over the abnormal clone, allowing a cultured autologous stem cell transplantation to be performed. Despite detection of the t(1;5) from 5 months to 7 years following cultured autograft, the patient remained in haematological remission. Currently the patient is alive and well at 10 years in full cytogenetic remission.
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http://dx.doi.org/10.1046/j.1365-2141.2002.03415.x | DOI Listing |
Pediatr Blood Cancer
March 2025
Pediatric Hematology-Oncology Department, University Children's Hospital of Basel, Basel, Switzerland.
Cancers (Basel)
December 2024
Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, 20-093 Lublin, Poland.
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic cancers characterized by hyperproliferation of the myeloid lineages. These clonal marrow disorders are extremely rare in pediatric patients. MPN is reported to occur 100 times more frequently in adults, and thus research is primarily focused on this patient group.
View Article and Find Full Text PDFMed Oncol
December 2024
Edmond H. Fischer Translational Medical Research Laboratory, Scientific Research Center, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, 518107, Guangdong, China.
Juvenile myelomonocytic leukemia (JMML) is a rare myeloproliferative neoplasm occurring in infants and young children. JMML has been shown to be resistant to all conventional cytotoxic chemotherapy drugs, and current curative therapies still rely on hematopoietic stem cell transplantation, which carries a high risk of relapse post-transplantation. This underscores the urgent need for novel treatment strategies.
View Article and Find Full Text PDFAm J Med Genet A
December 2024
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Aplastic anemia, characterized by pancytopenia and hypoplastic bone marrow, is associated with various acquired cytogenetic abnormalities, including trisomy 8, in 4%-15% of patients. Constitutional mosaic trisomy 8 notably increases the risks for cytopenia and myeloid malignancies. Duplications near chromosome 8 centromere are associated with developmental delays, autism, and trisomy 8p11.
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