M R DiCaprio1, M J Murphy, R L Camp. 1. Departments of Orthopaedics and Rehabilitation and Pathology, Yale University School of Medicine, New Haven, CT 06520-8071, USA. dicaprio@javanet.com
Abstract
STUDY DESIGN: A report of two cases of aneurysmal bone cysts of the spine occurring in a father and daughter. OBJECTIVE: To present an unusual finding of familial incidence of aneurysmal bone cyst and review the literature. SUMMARY OF BACKGROUND DATA: Aneurysmal bone cysts are benign, expanding, locally aggressive lesions. Up to 20% of cases involve the spine. The cause of primary aneurysmal bone cysts remains unclear. There have been three previous reports of a familial incidence supporting the importance of a hereditary component in the cause of aneurysmal bone cysts. METHODS: A 36-year-old man and a 7-year-old girl were diagnosed with aneurysmal bone cyst involving the spine by clinical manifestations, radiographic features, and histologic evaluation. RESULTS: The father remains recurrence- and symptom-free 6 years after primary resection. Five months after surgery, the daughter was found to have recurrent disease by magnetic resonance imaging and underwent a second procedure within 1 year of the primary resection. CONCLUSION: The occurrence of a primary aneurysmal bone cyst in two family members, occurring at adjacent vertebral levels, is suggestive of a hereditary component to the formation of primary aneurysmal bone cyst.
STUDY DESIGN: A report of two cases of aneurysmal bone cysts of the spine occurring in a father and daughter. OBJECTIVE: To present an unusual finding of familial incidence of aneurysmal bone cyst and review the literature. SUMMARY OF BACKGROUND DATA: Aneurysmal bone cysts are benign, expanding, locally aggressive lesions. Up to 20% of cases involve the spine. The cause of primary aneurysmal bone cysts remains unclear. There have been three previous reports of a familial incidence supporting the importance of a hereditary component in the cause of aneurysmal bone cysts. METHODS: A 36-year-old man and a 7-year-old girl were diagnosed with aneurysmal bone cyst involving the spine by clinical manifestations, radiographic features, and histologic evaluation. RESULTS: The father remains recurrence- and symptom-free 6 years after primary resection. Five months after surgery, the daughter was found to have recurrent disease by magnetic resonance imaging and underwent a second procedure within 1 year of the primary resection. CONCLUSION: The occurrence of a primary aneurysmal bone cyst in two family members, occurring at adjacent vertebral levels, is suggestive of a hereditary component to the formation of primary aneurysmal bone cyst.
Authors: Mehmet Zileli; Hasan Serdar Isik; Fatih Ersay Ogut; Merih Is; Sedat Cagli; Cem Calli Journal: Eur Spine J Date: 2012-10-01 Impact factor: 3.134
Authors: Carlo Brembilla; Luigi Andrea Lanterna; Michela Bosisio; Paolo Gritti; Andrea Risso; Antonio Signorelli; Francesco Biroli Journal: Case Rep Oncol Med Date: 2014-01-09