| Session: Chronic myelogenous leukemia |
| Case number: 216 |
Submitter(s): Richard L. McMasters, Shi-Ping Jiang, Michele Hibbard, Joline Abrahams, Wayne Chen, Jess Savala, Dennis P. O'Malley.
Clinical history
The patient is a 26 year old male who was diagnosed with chronic myelogenous leukemia approximately four years prior to presentation. He was treated with imatinib mesylate and had a complete clinical and hematological response. At least one interval FISH study was negative for BCR/ABL translocation. He presented with neurological symptoms and imaging of the central nervous system showed hydrocephalus. Cerebrospinal fluid was obtained for morphology and a repeat specimen was analyzed by flow cytometry and cytogenetics two weeks later. Bone marrow aspiration and biopsy was performed three weeks after initial presentation.
Details of gross/microscopic pathology:
The two CSF specimens showed leukocytosis with a preponderance of blasts. Figures 1 and 2 show the second CSF specimen stained with Papanicolaou and Wright Giemsa, respectively.
The bone marrow was normocellular for age (Figure 3).
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometry on the CSF showed approximately 80% myeloid blasts. The blasts expressed CD13, CD33, CD34, CD38, CD45, CD117 and HLA-DR as well as the aberrant markers CD7 and CD56 (Figure 4).
Flow cytometry on the bone marrow aspirate showed no significant abnormality (Figure 5).
Cytogenetics:
CSF karyotype: 48,XY,+8,t(9;22)(q34;q11.2),+der(22)t(9;22)[2].
This is an abnormal male karyotype with two Philadelphia chromosomes and trisomy 8 (Figure 6).
Bone marrow karyotype: 46,XY[20].
FISH was performed on the bone marrow aspirate using a three color, dual fusion probe set with an aqua probe for the region 5' of ABL, an orange probe for ABL and a green probe for BCR. This analysis showed no evidence of BCR/ABL translocation:
nuc ish 9q34(5'ABLx2,ABLx2),22q11(BCRx2)[100].
Molecular analysis:
Interesting feature(s) of submitted case:
This patient developed a blast phase of CML at an extramedullary site (central nervous system) at the same time that the bone marrow was in complete remission by morphology and FISH analysis.
Proposed diagnosis:
Chronic myelogenous leukemia in blast phase (extramedullary).
Panel diagnosis:
agree with proposed diagnosis
Comments:
Images:
 |
Figure 1 |
 |
Figure 2 |
 |
Figure 3 |
 |
Figure 4 |
 |
Figure 5 |
 |
Figure 6 |
Back to Top
Back to Cases by Session
Back to Cases by Contact Submitter