Metachronous and multiple aneurysmal bone cysts: a rare variant of primary aneurysmal bone cysts.
In 1942, Jaffe and Lichtenstein introduced the term aneurysmal bone cyst (ABC). Primary ABC is characterized by the presence of spongy or multi-cameral cystic tissue filled with blood. The process is benign, but it is locally destructive and has a high propensity for recurrence. In this paper, we present the third case of multiple metachronous primary ABCs as a rare variant of ABC. We describe the 10-year history of a 12-year-old boy with metachronous multiple primary ABCs at five different sites (right proximal humerus, right ulna, bilateral distal radius and right lateral clavicle). Furthermore, our patient suffered from vascular malformations, such as aortic isthmus stenosis, hypoplastic thoraco-abdominal aorta and bilateral renal artery stenosis. To date, in contrast to solitary ABC, the multiple lesions have been found more frequently in male individuals. Using interphase cytogenetics, we analyzed three of five of the patient's ABCs and one of these was also analyzed by GTG-banding. No chromosomal abnormalities were found. Significantly, we excluded the missense mutation of codon 201 in guanine nucleotide-binding protein 1 gene consistently found in McCune-Albright syndrome (MAS) and in non-MAS cases of polyostotic fibrous dysplasia of bone with or without secondary ABC.
Scheil-Bertram
Stefanie
S
Institute of Pathology, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany. stefanie.scheil@medizin.uni-ulm.de
Hartwig
Erich
E
Brüderlein
Silke
S
Melzner
Ingo
I
von Baer
Alexandra
A
Roessner
Albert
A
Möller
Peter
P
Schulte
Michael
M
D001808:Blood Vessels / Q000002:abnormalities; D017824:Bone Cysts, Aneurysmal / Q000150:complications / Q000235:genetics / Q000473:pathology*; D001842:Bone and Bones / Q000293:injuries; D002675:Child, Preschool; D002968:Clavicle / Q000000981:diagnostic imaging; D003582:Cytogenetics; D050723:Fractures, Bone / Q000209:etiology; D019204:GTP-Binding Proteins / Q000235:genetics; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging; D007150:Immunohistochemistry; D008297:Male; D011859:Radiography; D011884:Radius / Q000000981:diagnostic imaging; D014457:Ulna / Q000000981:diagnostic imaging
D019204:GTP-Binding Proteins