| Session: Chronic myelogenous leukemia |
| Case number: 092 |
Submitter(s): Sherif Rezk, Qin Huang.
Clinical history
The patient is a 66 year-old male with a history of hypertension and atrial fibrillation who presented in July of 2005 at City of Hope National Medical Center with bone pain. Laboratory showed hypercalcemia, and mild leukocytosis with no anemia or thrombocytopenia. A bone survey revealed multiple lytic lesions involving skull, upper/lower extremities and spine, highly suspicious of multiple myeloma. A bone marrow biopsy was performed and showed hypercellular, fibrotic marrow with sheets of megakaryocytic blasts. Philadelphia chromosome (t(9;22)) was detected by cytogenetic studies. No evidence of myeloma was identified. The patient was treated with induction chemotherapy (cytarabine and idarubicin) followed by Gleevec, which rapidly relieved the hypercalcemia and the bone pain. In December 2005, the patient was admitted again with relapsed leumkemia and recurrent hypercalcemia. He was considered to have high dose chemotherapy follow by hematopoietic cell transplantation. However, his hospital course was complicated by persistent disease, sepsis, pulmonary hemorrhage, and respiratory distress requiring intubation. The patient expired while admitted to the intensive care unit. An autopsy revealed extensive disease involving bone marrow, spleen, three ribs and the left hilar lymph node.
Details of gross/microscopic pathology:
The initial CBC data were as follows: WBC 13.4K/ul, HGB 14.0 g/dl, Platelet 211K/ul. The peripheral blood showed 15% circulating blasts. The bone marrow biopsy showed markedly hypercellular marrow with marked reticulum fibrosis, numerous dysplastic megakaryocytes, and sheets of immature cells, which constituted approximately 40-50% of the marrow cellular element. The aspirate smears were paucicellular and showed increased in blasts with round or ovoid-shaped nuclei, fine chromatin, 1-3 prominent nucleoli, and scant basophilic cytoplasm. Many blasts showed cytoplasmic budding.
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometry of the bone marrow aspirate showed a myeloid blast population that expressed CD34, CD117, CD13 with dim expression of CD41 and CD61. By immunohistochemistry, the immature cells were positive for CD61 (subset) and are completely negative for myeloperoxidase. Immunohistochemical studies for myeloma were negative.
Cytogenetics:
t(9;22) was detected in 20/20 cells by conventional cytogenetics. BCR/ABL fusion gene was detected by FISH analysis [64.2%].
Molecular analysis:
Bcr/abl fusion gene p210 transcripts were detected by RT-PCR analysis.
Interesting feature(s) of submitted case:
Chronic myelogenous leukemia with megakaryocytic blast crisis presented with bone pain, hypercalcemia and lytic bone lesions that highly mimic multiple myeloma both clinically and radiologically. To our knowledge, such presentation in CML with blast crisis is highly unusual and has not been well described.
Proposed diagnosis:
Chronic myeloid leukemia with blast crisis presented with bone pain, hypercalcemia and multiple lytic bone lesions that highly mimic multiple myeloma.
Panel diagnosis:
agree with proposed diagnosis
Comments:
Additional information from the submitter: Initial bone marrow biopsy and flow cytometry analysis at the patient's original hospital also showed 30% blasts expressing CD34, CD13, CD117, CD41 and CD42B, supporting the diagnosis of acute leukemia with megakaryoblastic differentiation.
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