Department of Hematology and Medical Oncology, Hospital Clinico, University of Valencia, Avda Blasco Ibañez, 17; 46010 Valencia, Spain.
Published: March 2003
AI Article Synopsis
Article Abstract
Among 20 cases of typical splenic marginal zone lymphoma (SMZL), two cases had blastic transformation. The genetic mechanisms underlying the morphologic transformation were investigated by comparing genetic changes in initial and blastic phases. A complex karyotype including trisomy of 3q and genomic gain of 17q22-q24 was seen in both cases at diagnosis. However, the extra copy of 3q was lost during the transformation process in both tumors. Additionally, the Karpas 1718 cell line, which was derived from a patient with transformed SMZL and carried a trisomy of 3q, also evidenced the spontaneous loss of the extra 3q during the culturing process. Other acquired abnormalities observed exclusively in the transformation phase included amplification and/or translocation of bands 7p22-q22 and 19p13. These findings suggest that the loss of + 3q and the acquisition of other genomic imbalances may represent unique markers for the transformation process of SMZL. We hypothesize that the trisomy of 3q may correlate with the indolent nature of SMZL, and that the loss of this acquired abnormality leads to or accompanies the development of blastic tumors.
Myeloid blast-phase chronic myeloid leukemia (MBP-CML) is a rare disease with a dismal prognosis. It is twice as common as lymphoid blast-phase CML, and its prognosis is poorer. Despite the success with tyrosine kinase inhibitors in the treatment of chronic-phase CML, the same does not hold true for MBP-CML.
MYB fusions are recurrently found in select cancers, including blastic plasmacytoid DC neoplasm (BPDCN), an acute leukemia with poor prognosis. They are markedly enriched in BPDCN compared with other blood cancers and, in some patients, are the only obvious somatic mutation detected. This suggests that they may alone be sufficient to drive DC transformation.
Chronic myeloid leukemia (CML) can develop from a chronic phase to a rare megakaryoblastic phase, which has a poor prognosis and resistance to standard treatments like tyrosine kinase inhibitors (TKIs).
A case study details a 39-year-old woman whose CML progressed to this rare phase despite receiving chemotherapy, leading to her death within a month.
The diagnosis included various tests showing that the disease transformed into acute megakaryoblastic leukemia (AMKL), emphasizing the importance of using megakaryocytic markers in diagnosis for better treatment outcomes.
Chronic myelomonocytic leukemia is a clonal hematological disorder with an inherent risk of transformation to acute myeloid leukemia. Recently, there has been exponential discovery of molecular abnormalities in patients with chronic myelomonocytic leukemia. Some of these mutations independently contribute to a higher risk of transformation and result in inferior overall survival.
Chronic myeloid leukemia (CML) is characterized by the Philadelphia translocation (t(9;22)) that creates the BCR::ABL1 fusion gene, which is key to its diagnosis.
Other myeloproliferative neoplasms (MPNs) also exhibit specific chromosomal abnormalities, but these are not unique to any one type and diagnosis relies on various cytological, histopathological, and molecular features.
The progression of CML and other MPNs can be influenced by additional mutations, particularly in key genes like JAK2, MPL, and CALR, as well as the order in which these mutations occur, making ongoing monitoring essential.
