ASH Image Bank (2001); doi:10.1182/ashimagebank-2001-100197
Copyright © 2001 by the American Society of Hematology.
Myelodysplastic Syndrome: Myelodysplastic Syndrome Associated with Isolated del(5q)Chromosome Abnormality ('5q- Syndrome')
James W Vardiman, M.D.
University of Chicago
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Figure 1. MDS with isolated del(5q) chromosome abnormality. Peripheral blood smear (Wright-Giemsa stain). The peripheral blood smear was most remarkable for showing red blood cell anisocytosis with a population of macro-ovalocytes. Platelets are at the upper limits of normal, and are morphologically normal. There are no abnormalities in the neutrophils in the blood smear.
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Figure 2. MDS with isolated del(5q) chromosome abnormality. Bone marrow biopsy specimen (H&E stain). The bone marrow biopsy is normocellular. Megakaryocytes are present in normal number, but some have hypolobated nuclei.
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Figure 3. MDS with isolated del(5q) chromosome abnormality. Bone marrow biopsy specimen (H&E stain). This high power view of the biopsy illustrates several megakaryocytes. They are slightly smaller than normal in size, and have hypolobated nuclei.
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Figure 4. MDS with isolated del(5q) chromosome abnormality. Bone marrow biopsy specimen (H&E stain) and bone marrow aspirate smear (Wright-Giemsa stain). This slide compares the appearance of the hypolobated megakaryocytes in the biopsy section with their appearance in the aspirate smear. In the biopsy section, note the erythroid proliferation. In both figures, note the monolobation of the megakaryocyte nuclei.
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Figure 5. MDS with isolated del(5q) chromosome abnormality. Bone marrow aspirate smear (Wright-Giemsa stain). This slide is a high power view of the megakaryocytes characteristic of the "5q- syndrome". The megakaryocytes are normal sized or slightly smaller than normal and have monolobated hypolobated nuclei. Note the size of the megakaryocyte as compared to the myelocyte in the upper portion of the figure.
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Figure 6. MDS with isolated del(5q) chromosome abnormality. Bone marrow aspirate smear (Wright-Giemsa stain). In this composite figure, erythroid proliferation can be seen in the left panel. It is mainly normoblastic, although a few erythroid precursors do demonstrate some nuclear-cytoplasmic dyssynchrony. The neutrophil precursors appear normal. Right panel, megakaryocytes with hypolobated nuclei are present.
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Figure 7. MDS with isolated del(5q) chromosome abnormality. Karyotype prepared from bone marrow cells. This figure illustrates the del (5q) chromosomal abnormality, with an interstitial deletion of genetic material between q13 and q33. Interstitial deletions of 5q with different breakpoints have also been reported.
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Figure 8. This figure summarizes the characteristic findings associated with MDS with an isolated del(5q) syndrome. The peripheral blood often shows a macrocytic anemia with normal or elevated platelet counts, and the bone marrow biopsy and aspirate are characterized by the finding of megakaryocytes with monolobated or hypolobated nuclei.
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Clinical Summary
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This 46-year-old woman was referred to a hematologist with a history of "chronic anemia". She told the hematologist that she had been told 3 years previously that she had anemia, and was treated with vitamins and iron without any improvement. At the time of her visit to the hematologist, WBC=4.1 x 109/L, Hb=8.0 g/dl, HCT=23.7 %, MCV=113 fl, RDW=15.7%, platelets=425 x 109/L. A bone marrow biopsy and aspirate were performed, and a sample was submitted for cytogenetic studies. The cytogenetic studies showed a single chromosomal abnormality, del(5)(q13q33).
Sex
Female
Age
46
Ethnicity
n/a
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Diagnosis
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Myelodysplastic Syndrome Associated with an Isolated del(5q) Chromosomal Abnormality.
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Discussion
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Definition: A myelodysplastic syndrome associated with an isolated del(5q) cytogenetic abnormality, associated with refractory anemia, normal or elevated platelet count, and megakaryocytes of variable size with monolobated or hypolobated megakaryocytes. The number of blasts in the bone marrow is less than 5%.
Synonyms: 5q- syndrome
Epidemiology: The "5q- syndrome" occurs predominantly in middle aged to older women (male female ratio is 0.5, in contrast to other myelodysplastic syndromes, where males predominate).
Etiology: Unknown
Clinical features: The most common symptoms are related to the refractory anemia, which can be severe. There may be mild leukopenia, but platelet counts are normal or increased. Rarely, patients may have platelet counts exceeding 1000 x 109 /L.
Morphologic features: The peripheral blood usually shows macrocytic anemia. The white cell count is often normal or slightly decreased. The platelet count is generally elevated or normal, and occasionally may exceed 1 million/uL. Occasional blasts may be seen in the blood smear, but are always fewer than 5%. The bone marrow biopsy specimen is hypercellular or normocellular with normal to increased numbers of megakaryocytes. The megakaryocytes are characteristic of the disease. The megakaryocyte size may be variable, ranging from small to normal. Monolobated or hypolobated megakaryocyte nuclei are characteristic of the disease. The number of blasts in the marrow is less than 5%. Dysplastic features of variable degree are present in the erythroid precursors.
Genetic features: The sole cytogenetic abnormality involves an interstitial deletion of the long arm of chromosome 5. In most cases, the abnormality is del (5)(q13q33), but other interstitial deletions have been reported as well, including del (5)(q15q33) or del (5)(q22q33). If any additional cytogenetic abnormalities are present, the case should not be placed in this category.
It is important to emphasize that abnormalities of chromosome 5, i.e., -5/del(5q), are among the most common cytogenetic abnormalities in the myelodysplastic syndromes. Frequently, the del(5q) abnormality occurs in combination with other chromosomal abnormalities. However even when the del 5q is the sole chromosomal abnormality, it may be found in other MDS subtypes. Thus, even when del (5q) is the only chromosomal abnormality, it may not be associated with the characteristic features of the "5q- syndrome".
Clinical outcome: Patients with the 5q- syndrome may experience a relatively benign disease course extending over several years.
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Differential Diagnosis
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Refractory anemia, Refractory cytopenia with multilineage dysplasia, refractory anemia with excess of blasts. (See table above for comparison of features of syndrome with other subtypes of MDS).
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| Related ASH-SAP Chapter: |
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Chapter 9: Myelodysplastic syndrome and overlap syndromes
Copyright © 2001 by the American Society of Hematology.
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