| Session: Myelodysplastic / myeloproliferative disease |
| Case number: 198 |
Submitter(s): Dita Gratzinger, Tracy George.
Clinical history
The patient is a 33 year old man with absolute monocytosis, circulating blasts, and eosinophilia. A trial of treatment with imatinib results in a transient decrease in the blast count and monocytosis but not the eosinophilia. Within months counts increase and are temporarily controlled with hydroxyurea; within a year the patient evolves to acute myelogenous leukemia which is unresponsive to chemotherapy and is transferred to hospice care.
WBC 30.4 K/uL, Hg 6.5 g/dL, Hct 19.2%, MCV 86 fL, Plt 11 K/uL, Monos 7% (2.1K/uL), Eos 15% (4.6K/uL), blasts 10%, basos 6% (1.8k/uL).
Details of gross/microscopic pathology:
The peripheral blood smear shows normochromic normocytic anemia with circulating nucleated red blood cells; neutrophilia, eosinophilia, and basophilia with immature atypical monocytes, dysplastic hypogranular neutrophils and hypersegmented, hypogranular eosinophils; decreased platelets with dysplastic giant and hypogranular forms; and 10% circulating blasts.
The bone marrow aspirate is hemodilute and noncontributory.
The bone marrow biopsy is markedly hypercellular (almost 100%) with myeloid hyperplasia, dysplastic myeloid maturation, markedly increased eosinophils, decreased erythropoiesis, increased dysplastic megakaryocytes with focal clustering, and increased immature mononuclear cells. A reticulin stain shows patchy 2+ reticulin fibrosis.
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometry shows 14% CD34+, CD33+, CD117+ myeloid blasts with aberrant coexpression of CD7.
Cytogenetics:
Cytogenetics shows t(12;14)(p13;q11) and monosomy 7.
Negative Bcr-Abl study.
Molecular analysis:
Interesting feature(s) of submitted case:
The patient has a history of absolute monocytosis with increased blasts, eosinophilia, and marrow fibrosis with a partial transient response to imatinib and evolution to chemotherapy-resistant acute myelogenous leukemia. Prominent granulocytic dysplasia, including atypical eosinophils, and megakaryocytic dysplasia is present. Cytogenetic analysis reveals t(12;14)(p13;q11) and monosomy 7. However the entity of chronic myelomonocytic leukemia with eosinophilia has classically been associated with a different translocation, t(5;12)(q33;p13), involving the PDGFRbeta and TEL loci.
Proposed diagnosis:
Chronic myelomonocytic leukemia with eosinophilia associated with an unusual translocation t(12;14)(p13;q11).
Panel diagnosis:
agree with proposed diagnosis
Comments:
Images:
 |
Figure 1 |
 |
Figure 2 |
 |
Figure 3 |
 |
Figure 4 |
 |
Figure 5 |
 |
Figure 6 |
 |
Figure 7 |
Back to Top
Back to Cases by Session
Back to Cases by Contact Submitter