| Session: Chronic myelogenous leukemia |
| Case number: 080 |
Submitter(s): Beverly P. Nelson, Lo Ann Peterson.
Clinical history
A 25 year old woman with a history of ulcerative colitis for 14 years was diagnosed with chronic phase chronic CML in April 2006 (WBC 60.8k/uL). She was treated with Gleevec 600mg/day with good response (WBC returned to normal). CML-blast phase developed one month later in May 2006. Cerebrospinal fluid showed blasts in Sept. 2006. She was transferred to our institution where a bone marrow showed precursor B-lymphoid blast phase (WBC 36.5k/uL; HGB 10.6g/dL; HCT 30.1%; MCV 87fL; RDW 14.4%; PLT 91k/uL; blast 81%, neutrophils 8%, lymphocytes, 7%, eosinophils 1%, basophils 0.5%, metamyelocytes 1.5%, myelocytes 1%). She was treated with hyperCVAD and achieved a good response (bone marrow without morphologic evidence of acute leukemia), but was readmitted in 10/06 because of headache, diplopia and nausea. CSF obtained at admission showed acute leukemia. She was treated with intrathecal methotrexate, desatinib and CVAD. She achieved a complete morphologic and molecular / genetic remission followed by an allogenic stem cell transplant in Dec. 2006.
Details of gross/microscopic pathology:
Wright/Giemsa stained blood smear and bone marrow aspirate, B5 fixed, H&E stained, trephine bone marrow core biopsy sections obtained during CML-blast phase are provided for review.
Immunophenotype (flow cytometry/immunohistochemistry):
Blasts are dim CD45+, CD19+, CD10+, TdT-, sIg-, CD79a+, CD20+, dim CD22+, CD52+, CD13-, CD33-, myeloperoxidase -, and CD3-.
Cytogenetics:
Cytogenetic analysis of the bone marrow 4 months following diagnosis of CML-blast phase showed that 24 of 25 metaphases had a Ph chromsome as well as a dicentric 7;16 translocation, an abnormal 8q, and deletion 9p. See complete karyotype below. FISH showed BCR-ABL fusion.
45, XX, dic (7;16) (p13;p11.2), add(8) (q24.1), del (9) (p13), t(9;22) (q34;q11.2) [24] / 46, XX [1].
Molecular analysis:
PCR analysis of the bone marrow aspirate obtained at CML-blast phase was positive for BCR-ABL fusion transcript (p210).
Interesting feature(s) of submitted case:
This patient was diagnosed with CML at a relatively young age and developed blast phase, precursor B-cell phenotype one month after diagnosis. Cytogenetic analysis showed a complex karyotype.
Proposed diagnosis:
Chronic myeloid leukemia- blast phase, presursor B-cell phenotype.
Panel diagnosis:
agree with proposed diagnosis
Comments:
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