![A 60-year-old man with a history of Gaucher disease, diagnosed in early childhood that necessitated splenectomy, and immunoglobulin G λ plasma cell myeloma presents for evaluation following Velcade, dexamethasone, and local radiation at an outside facility. Initial evaluation showed pathologic fracture of the proximal right tibia, renal failure, anemia, and hypercalcemia. / Bone marrow examination revealed numerous Gaucher histiocytes with characteristic “wrinkled tissue paper” appearance (panel A, aspirate, original magnification ×1000, Wright-Giemsa stain, black arrows; panel B, biopsy, original magnification ×600, hematoxylin and eosin stain [H&E], black arrows). Focal large aggregates of Gaucher histiocytes were identified on biopsy (panel C, original magnification ×100, H&E stain). Myeloma plasma cells persist with prominent nucleoli (panels A and B, blue arrows). The plasma cells are positive for CD138 (panel D, original magnification ×200) and are λ restricted by κ (panel E, original magnification ×200) and λ (panel F, original magnification ×200) in situ hybridization stains. / Gaucher disease is an autosomal recessive lysosomal storage disease; it is caused by mutations in the GBA gene that eliminate or significantly reduce the activity of β-glucocerebrosidase. Type 1 Gaucher disease is the most common and is associated with hepatosplenomegaly, bone fractures, arthritis, and cytopenias. Hematologic malignancies have been described to be associated with Type 1 Gaucher disease, and plasma cell myeloma has been reported to be the most common.](https://ash.silverchair-cdn.com/ash/content_public/journal/blood/133/1/10.1182_blood-2018-09-875435/9/m_blood875435f1.png?Expires=1735305008&Signature=mWb9Ccz9qZMxq7VmSST9xHdZGIMwNk42buUh~z2dQgiCwG1oIdb6iDLy7HKFfom4N7rFFj0Fp9y~rupwLXUqMbQ3oG3VIVXAmOWkTFeMG37f79YKXyYduqLsVEh~V-JhrKRkihTZEb2PMtlX~09OLOYq4Xg~PKchJm5Xra4V-WqlDuC1ITyrdkujwIH1RYE2QAaXnqVrb~LQVCBnKB-odJ2dqVLuDbZoNILZLvdK-f~PLyjyJoa1lr8uiUuiJ09l1LwTJmMzBwMhHVwkqQ6N9VQIO9ealbv53aiw4J3v52nCYSHExzf0i10qyCi1Od1IdHAVFnB~Sva~fQizBgfmNA__&Key-Pair-Id=APKAIE5G5CRDK6RD3PGA)
A 60-year-old man with a history of Gaucher disease, diagnosed in early childhood that necessitated splenectomy, and immunoglobulin G λ plasma cell myeloma presents for evaluation following Velcade, dexamethasone, and local radiation at an outside facility. Initial evaluation showed pathologic fracture of the proximal right tibia, renal failure, anemia, and hypercalcemia.
Bone marrow examination revealed numerous Gaucher histiocytes with characteristic “wrinkled tissue paper” appearance (panel A, aspirate, original magnification ×1000, Wright-Giemsa stain, black arrows; panel B, biopsy, original magnification ×600, hematoxylin and eosin stain [H&E], black arrows). Focal large aggregates of Gaucher histiocytes were identified on biopsy (panel C, original magnification ×100, H&E stain). Myeloma plasma cells persist with prominent nucleoli (panels A and B, blue arrows). The plasma cells are positive for CD138 (panel D, original magnification ×200) and are λ restricted by κ (panel E, original magnification ×200) and λ (panel F, original magnification ×200) in situ hybridization stains.
Gaucher disease is an autosomal recessive lysosomal storage disease; it is caused by mutations in the GBA gene that eliminate or significantly reduce the activity of β-glucocerebrosidase. Type 1 Gaucher disease is the most common and is associated with hepatosplenomegaly, bone fractures, arthritis, and cytopenias. Hematologic malignancies have been described to be associated with Type 1 Gaucher disease, and plasma cell myeloma has been reported to be the most common.
A 60-year-old man with a history of Gaucher disease, diagnosed in early childhood that necessitated splenectomy, and immunoglobulin G λ plasma cell myeloma presents for evaluation following Velcade, dexamethasone, and local radiation at an outside facility. Initial evaluation showed pathologic fracture of the proximal right tibia, renal failure, anemia, and hypercalcemia.
Bone marrow examination revealed numerous Gaucher histiocytes with characteristic “wrinkled tissue paper” appearance (panel A, aspirate, original magnification ×1000, Wright-Giemsa stain, black arrows; panel B, biopsy, original magnification ×600, hematoxylin and eosin stain [H&E], black arrows). Focal large aggregates of Gaucher histiocytes were identified on biopsy (panel C, original magnification ×100, H&E stain). Myeloma plasma cells persist with prominent nucleoli (panels A and B, blue arrows). The plasma cells are positive for CD138 (panel D, original magnification ×200) and are λ restricted by κ (panel E, original magnification ×200) and λ (panel F, original magnification ×200) in situ hybridization stains.
Gaucher disease is an autosomal recessive lysosomal storage disease; it is caused by mutations in the GBA gene that eliminate or significantly reduce the activity of β-glucocerebrosidase. Type 1 Gaucher disease is the most common and is associated with hepatosplenomegaly, bone fractures, arthritis, and cytopenias. Hematologic malignancies have been described to be associated with Type 1 Gaucher disease, and plasma cell myeloma has been reported to be the most common.
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