Metastatic potential of an aneurysmal bone cyst.
Aneurysmal bone cysts (ABCs) are benign bone tumors consisting of blood-filled cavities lined by connective tissue septa. Recently, the hypothesis that ABCs are lesions reactive to local hemodynamics has been challenged after the discovery of specific recurrent chromosomal abnormalities. Multiple cases of malignant transformation of ABC into (osteo)sarcoma have been described, as well as a number of cases of telangiectatic osteosarcoma which had been misdiagnosed as ABC. We herewith document a case of a pelvic ABC metastatic to the lung, liver, and kidneys. Diagnosis was confirmed by the presence of a break in the USP6 gene, which is pathognomonic for ABC, in a pulmonary metastasis of our patient. Sarcomatous transformation as an explanation for this behavior was ruled out by demonstrating diploid DNA content in both the pulmonary lesion and the primary tumor.
Department of Medical Oncology (452), Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. a.luijtgaarden@onco.umcn.nl
Addy C M
AC
van de Luijtgaarden
Rene P H
RP
Veth
Piet J
PJ
Slootweg
Pauline M
PM
Wijers-Koster
Leo J
LJ
Schultze Kool
Judith V M G
JV
Bovee
Winette T A
WT
van der Graaf
D000911:Antibodies, Monoclonal / Q000627:therapeutic use; D061067:Antibodies, Monoclonal, Humanized; D000970:Antineoplastic Agents / Q000627:therapeutic use; D000068258:Bevacizumab; D017824:Bone Cysts, Aneurysmal / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D001859:Bone Neoplasms / Q000235:genetics / Q000473:pathology*; D002277:Carcinoma / Q000150:complications; D002471:Cell Transformation, Neoplastic / Q000473:pathology; D003924:Diabetes Mellitus, Type 2 / Q000150:complications; D004621:Embolization, Therapeutic; D005260:Female; D006801:Humans; D006965:Hyperplasia; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000556:secondary; D008175:Lung Neoplasms / Q000556:secondary; D008875:Middle Aged; D016609:Neoplasms, Second Primary / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D012516:Osteosarcoma / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D013961:Thyroid Gland / Q000473:pathology; D043222:Ubiquitin Thiolesterase / Q000235:genetics*; D014594:Uterine Neoplasms / Q000150:complications
D000911:Antibodies, Monoclonal; D061067:Antibodies, Monoclonal, Humanized; D000970:Antineoplastic Agents; D011518:Proto-Oncogene Proteins; D000068258:Bevacizumab; C473330:USP6 protein, human; D043222:Ubiquitin Thiolesterase