Prominent gelatinous bone marrow transformation presenting prior to myelodysplastic syndrome: a case report with review of the literature

Abstract

Gelatinous bone marrow transformation (GMT) is a rare disorder characterized by the presence of fat cell atrophy, loss of hematopoietic cells, and deposition of extracellular gelatinous materials. GMT is not a specific disease, but is strongly associated with malnutrition and drugs. Albeit extremely rare, GMT has been reported in patients with myeloproliferative disorders. Herein, we report the second documented case of hypoplastic myelodysplastic syndrome (MDS) accompanying GMT. A 73-year-old Japanese male with excellent nutrition status and no history of alcohol or drug intake was detected with pancytopenia. The initial bone marrow aspirate specimen reveled hypocellular marrow without dysplastic signs in the myeloid cells. Bone marrow biopsy demonstrated hypocellular bone marrow with prominent GMT. He received blood transfusions, however, pancytopenia continued to progress. The second bone marrow aspirate specimen showed dysplastic changes, such as pseudo-Pelger-Huët cells, hypogranular or agranular granulocytes, and megakaryocytes with multiple small nuclei. Cytogenetic study demonstrated deletion of chromosome 7. Therefore, an ultimate diagnosis of hypoplastic MDS accompanying GMT was made. Only a limited number of cases of myeloproliferative disorders with GMT have been reported. Our analysis of these cases revealed that chromosome 7 abnormality is frequently observed in this condition. Moreover, findings from the current case suggested that myeloproliferative disorders including MDS must be included in the differential diagnostic considerations of GMT patients, who have no history of malnutrition or drugs, and careful examination of the bone marrow smear specimen and cytogenetic analysis are necessary for early detection of underlying myeloproliferative disorders.

Keywords: Gelatinous bone marrow transformation; bone marrow; myelodysplastic syndrome.

Figure 1

Histopathological features of the bone marrow of the first biopsy specimen. A: Fat cell atrophy, deposition of extracellular gelatinous materials, and decrease in the trilineage hematopoietic cells are observed. HE, x 200. B: The extracellular gelatinous materials are positive for Alcian blue staining. Alcian blue staining, x 200. C: The extracellular gelatinous materials are digested by hyaluronidase. Alcian blue staining with digestion by hyaluronidase, x 200.

Figure 2

Bone marrow smear specimen of the second bone marrow aspirate. A: Pseudo-Pelger-Huët cell with bilobed nucleus and hypogranular granulocytes are observed. Giemsa stain, x 1,000. B: Dysplastic megakaryocytes with multiple small nuclei. Giemsa stain, x 1,000.

Figure 3

Histopathological features of the clot section of the second bone marrow aspirate. A: Fat cell atrophy,deposition of extracellular gelatinous materials, and decrease in the trilineage hematopoietic cells are observed. HE, x 200. CD41-positive small-sized megakaryocyteis noted. x 400. B: The extracellular gelatinousmaterials are positive for Alcian blue staining. Alcianblue staining, x 200. C: The extracellular gelatinous materials are digested by hyaluronidase. Alcian blue staining with digestion by hyaluronidase, x 200.