Scheil-Bertram Stefanie, Hartwig Erich, Brüderlein Silke, Melzner Ingo, von Baer Alexandra, Roessner Albert, Möller Peter, Schulte Michael
Institute of Pathology, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany.
Virchows Arch. 2004 Mar;444(3):293-9. doi: 10.1007/s00428-003-0955-3. Epub 2004 Jan 20.
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.
1942年，贾菲和利希滕斯坦引入了“动脉瘤样骨囊肿（ABC）”这一术语。原发性ABC的特征是存在充满血液的海绵状或多房性囊性组织。该病变为良性，但具有局部破坏性且复发倾向高。在本文中，我们报告了第三例多灶性原发性ABC，这是ABC的一种罕见变异类型。我们描述了一名12岁男孩的10年病史，他在五个不同部位（右肱骨近端、右尺骨、双侧桡骨远端和右锁骨外侧）患有多灶性原发性ABC。此外，我们的患者还患有血管畸形，如主动脉峡部狭窄、胸腹部主动脉发育不全和双侧肾动脉狭窄。迄今为止，与孤立性ABC不同，多灶性病变在男性中更为常见。我们使用间期细胞遗传学方法分析了患者五个ABC中的三个，其中一个还进行了GTG显带分析。未发现染色体异常。值得注意的是，我们一致排除了在McCune-Albright综合征（MAS）以及伴有或不伴有继发性ABC的骨多骨性纤维发育不良的非MAS病例中均持续发现的鸟嘌呤核苷酸结合蛋白1基因第201密码子的错义突变。
