| Session: Myelodysplastic syndrome |
| Case number: 036 |
Submitter(s): Jagmohan S. Sidhu, Daniel P. Bellina, Rhett P. Ketterling.
Clinical history
A 90-year-old female was diagnosed as CLL in 2001 by flow cytometric analysis of the peripheral blood. Eight months after the diagnosis, she developed Coombs' negative mild normocytic-normochromic anemia, which was managed with Erythropoietin for 2 years. Subsequently, moderate macrocytic anemia appeared, which prompted a bone marrow examination resulting in the diagnosis of MDS in addition to CLL. She was put on 5-azacytidine, which failed after keeping the blood transfusion requirement low for about 30 months. A repeat bone marrow examination 4 months before stopping 5-azacytidine revealed slightly higher grade of dysplasia and unchanged amount of CLL. Following 5-azacytidine failure, thalidomide was started, which has been effective and was continued until a month ago when she developed DVT and bilateral pulmonary embolism. A recent FISH on peripheral blood showed 5q minus abnormality and trisomy 12. Currently, she is on anticoagulant therapy. Current CBC: WBC 6.4k/ul; LYMPH 64%; SEG 27%, MONO 7%; EO 1%; BASO 1%; RBC 2.78 mil/dl; HGB 8.9 g/dl; HCT 26%; PLT 367k/ul.
Details of gross/microscopic pathology:
Peripheral blood film (PBF) in 2001 and later showed absolute lymphocytosis with"grumelee cellule " appearance of lymphoid cells. Subsequent Bone marrow in 2004 showed hypercellular bone marrow with increased small lymphoid cell infiltration, dysplasia in all three cell lines, and predominance of monolobated megakaryocytes. Bone marrow in 2006 showed slightly higher degree of dyspalsia in erthroid series and mildly increased reticulin (Figure 7). The blasts were not more than 2% in either bone marrow specimens. The PBF never showed any blasts, but did show pseudoPelger-Huet neutrophils both in 2004 and in 2006.
Immunophenotype (flow cytometry/immunohistochemistry):
The flow cytometric analysis of the peripheral blood in 2001 and the bone marrow in 2004 and 2006 showed CD19+/CD20+/CD5+ (dim) /CD23+ (dim)/ CD38+/CD79b+(dim)/FMC7+ (dim); surface lambda+ B-cells.
Cytogenetics:
The cytogenetic analysis of the bone marrow aspirate in 2004 revealed 5q minus abnormality.
Molecular analysis:
The FISH analysis of the peripheral blood for myelodysplastic syndrome and chronic lymphocytic leukemia in late 2006 revealed 5q minus abnormality and trisomy 12. There was no inv(3), 7 deletion, 6q minus, 7q minus, 11q minus, 13q minus, 17p minus, t(11;14), 20q minus, or trisomy 8. The 5q minus abnormality was detected only in the cells with kidney-shaped nuclei (i.e. granulocytes), while trisomy 12 was detected only in the cells with round nuclei (lymphocytes). The round nuclei were neagtive for 5q minus.
Interesting feature(s) of submitted case:
1.Presentation as CLL for which no chemotherapy has been given.
2.Subsequent detection of 5q minus syndrome.
Proposed diagnosis:
Co-existent 5q minus syndrome and B-CLL.
Panel diagnosis:
agree with proposed diagnosis
Comments:
Additional information from the submitter: This patient did not want to be on thalidomide after she developed pulmonary embolism (PE). She was put on thalidomide before Revlimid was approved by FDA. After having PE, she did not want to be on any drug therapy. She is doing well with blood transfusions only. Her MDS and CLL have not worsened.
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