ABSTRACT
We present the case of a patient who presented cells with different morphologic appearance, lymphoblasts on peripheral blood smear, lymphoblasts on bone marrow aspirate and myloblasts on bone marrow biopsy, and immunophenotyping, leading to different stage diagnosis. The final diagnosis was that of acute myeloid leukemia (LAM0).
Subject(s)
Leukemia, Myeloid, Acute/diagnosis , Adult , Bone Marrow/pathology , Humans , Leukocytes/pathologyABSTRACT
Imatinib mesilate (IM) is the first line therapy for chronic myeloid leukemia (CML) patients in chronic phase. Although it offers a complete cytogenetic response (CCyR) in a majority of patients, there still are some rare cases in which a sudden blast crisis (SBC) evolves. The mechanism of this unexpected event is not yet completely understood. We present the case of a female patient who developed a SBC while being under IM therapy. We do not know for sure which is the role of IM in this event, but current available data suggest that this drug may have a permissive effect on the evolution of some aggressive subclones in the context of restored normal cell population.
Subject(s)
Blast Crisis , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/pathology , Piperazines/therapeutic use , Protein Kinase Inhibitors/therapeutic use , Pyrimidines/therapeutic use , Benzamides , Female , Humans , Imatinib Mesylate , Middle Aged , Retrospective StudiesABSTRACT
We present the case of a patient with a double transformation during the evolution of chronic hematopoietic malignancy - JAK2 positive chronic myeloproliferative neoplasm; the first transformation had occurred previous to the presentation in our Department, but the second transformation was observed in evolution and it was into a rapidly evolving disease, followed by survival of less than one month. We underline the very poor prognosis -- overall survival of 2.5 years from initial presentation -- a much reduced survival for a chronic myeloproliferative neoplasm, probably due also to multiple associated pathology. Also, the other interesting element of the case is related to the dysfunctional platelets -- hemorrhagic complication at increased platelet count, respectively thrombosis at platelet count under 20000/mmc.
Subject(s)
Cell Transformation, Neoplastic , Leukemia, Myeloid, Acute/diagnosis , Polycythemia Vera/diagnosis , Primary Myelofibrosis/diagnosis , Aged, 80 and over , Antineoplastic Agents/therapeutic use , Biomarkers/blood , Chronic Disease , Fatal Outcome , Humans , Janus Kinase 2/genetics , Leukemia, Myeloid, Acute/drug therapy , Leukemia, Myeloid, Acute/enzymology , Leukemia, Myeloid, Acute/genetics , Male , Mutation , Platelet Count , Polycythemia Vera/drug therapy , Polycythemia Vera/enzymology , Polycythemia Vera/genetics , Primary Myelofibrosis/drug therapy , Primary Myelofibrosis/enzymology , Primary Myelofibrosis/genetics , Prognosis , Pulmonary Embolism/diagnosis , Risk Factors , Splenomegaly , Thrombocytosis/diagnosis , Venous Thromboembolism/diagnosisABSTRACT
We present the case of an 80-year-old man who was admitted for anemia, back pain and progressive weakness. After a workup of clinical and laboratory data, the final diagnosis was multiple myeloma. The bone marrow aspirate revealed 53% myeloma cells with peculiar and rare morphological features: numerous large asurophilic--bright red granules--mucopolizaccharides and immunoglobulins secreted and accumulated in the endoplasmic reticulum, typically known as Russel bodies.
Subject(s)
Bone Marrow Cells/pathology , Multiple Myeloma/pathology , Plasma Cells/pathology , Aged, 80 and over , Cytoplasmic Granules/pathology , Fractures, Spontaneous/pathology , Humans , Inclusion Bodies/pathology , Magnetic Resonance Imaging , Male , Multiple Myeloma/diagnostic imaging , Radiography , Spinal Fractures/pathologyABSTRACT
Balanced translocations and chromosomal rearrangements are rare events involved in acute lymphoblastic leukemogenesis, yet little is known about the actual gene anomalies responsible for it. These rearrangements are reflected by the expression of certain surface markers such as KOR-SA3544 for t(9,22) and NG.2 for 11q23 rearrangements and may indicate a poor prognosis. Our purpose was to investigate whether these immunophenotypical and cytogenetical markers also correlate with cytogenetical molecular abnormalities. Bone marrow aspirate and peripheral blood samples were available for imunophenotyping and standard cytogenetic analysis. Initially we have investigated by imunophenotyping 28 patients with acute lymphoblastic leukemia, admitted in the Department of Hematology during the last year. Out of 28 cases, 15 were diagnosed as B-lineage ALL. Of those 15 patients, 7 had pro-B acute lymphoblastic leukemia immunophenotype: CD19+CD10+CD34+. Reactivity with KOR-SA3544 was found in 8 patients with proB-ALL. A particular subset of 3 patients with proB-ALL associated simultaneously KOR-SA3544 and NG.2 detected following flow-cytometric, and t(9,22) after standard cytogenetic analyses. In particular, one of them had a complex karyotype, coexpression of myeloid markers (CD33) and a history of breast cancer. One case had a inv (16). Our results suggest that the coexpression of KOR-SA35443 and NG2 in result of karyotype abnormal changes may predict a poor prognosis. The detected molecular cytogenetic aberrations are not typical for ALL; they indicate genomic instability, which most probably contributed to the observed poor outcome.
