| Session: Myelodysplastic syndrome |
| Case number: 061 |
Submitter(s): Anna Porwit.
Clinical history
13 years old boy with three months history of increased bruising has been referred Jan.8th 2007 due to thrombocytopenia. He had no fever, no focal symptoms of infection. Had small lymph nodes palpable on the neck, slightly increased spleen, liver not palpable. Lab: Hemoglobin 104 g/L, WBC 6,0 x10(9)/L, Plt 27 x10(9)/L, Erc(B)-MCV 80 fL, Neutrophils 2,3 x10(9)/L. These values remained stable during follow-up.
Details of gross/microscopic pathology:
Biopsy from iliac crest (3.8 cm long) showed highly cellular bone marrow with increased, left-shifted granulopoiesis and areas of ALIPS. There is maturation in granulopoiesis. Number of megakaryocytes was low. There were some normal and some small megakaryocytes. Small areas of erythropoiesis are present. Some lymphatic infiltrates consisting of small lymphocytes were found.
Bone marrow smears (Fig.3) showed left-shifted granulopoiesis with 15% blasts. Granulopoiesis shows dysplastic features. Erythropoiesis shows borderline dysplasia. No ringed-sideroblasts were present. Blood smears (Fig.4) showed 4% blasts, 2% myelocytes, 55% neutrophils, 29% lymphocytes and 9% monocytes.
Consecutive bone marrow one month later (with no treatment) showed the same results.
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometry (Fig.1,2) showed a pathological CD34+ population (8.4% of bone marrow cells) that was positive for CD7, CD33, HLA-DR, CD22, CD123, CD135, with heterogeneaous CD38 expression, but negative for CD19, CD10, TdT, CD13, CD117, CD56. Immunohistochemical stainings showed increased CD34+ cells (Fig.10), also positive for CD7 (Fig.5). CD117 cells (Fig.8) were increased in paratrabecular areas. Myeloperoxidase (Fig.6), Lysozyme, CD16 and CD15 (Fig.9) stains showed maturation in granulopoiesis. Stains for CD20 and CD3 showed reactive lymphatic infiltrates. CD79a and CD10 showed small lymphatic cells in the bone marrow corresponding to B-precursors. No increase in TdT+ cells was found. CD61 stain showed some small and some normal megakaryocytes. Hemoglobin stain (Fig.7) showed presence of erythropoietic maturation.
Cytogenetics:
Karyotype: 46XY, 5q-
No other cytogenetic aberrations were found by SKY analysis. t(5;11)(q35; p15,5) was not found.
Molecular analysis:
FLT3 mutation analysis and CGH pending.
Interesting feature(s) of submitted case:
This case of myelodysplastic syndrome in a child is difficult to classify according to WHO. There is an isolated 5q- by cytogenetics but the case does not fit into 5q- syndrome. Morphological criteria for AML are not fullfilled.
Proposed diagnosis:
Myelodysplastic syndrome of RAEBII type? 5q?
Panel diagnosis:
Acute myeloid leukemia
Comments:
PowerPoint:
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