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Bilateral familial elastofibroma dorsi: is genetic abnormality essential?
Tevfik İlker Akçam1, Ufuk Çağırıcı2, Alpaslan Çakan2
1Department of Thoracic Surgery, Dr Suat Seren Chest Disease and Thoracic Surgery Training and Research Hospital, Izmir, Turkey.
The Annals of Thoracic Surgery
|August 5, 2014
Summary
Elastofibroma dorsi, a rare soft tissue tumor, can present bilaterally and may have familial links. Genetic testing in affected sisters found no significant chromosomal instability, suggesting non-chromosomal genetic factors.
Area of Science:
- Orthopedics
- Oncology
- Genetics
Background:
- Elastofibroma dorsi is a rare, benign soft tissue tumor typically found in the periscapular region.
- It characteristically presents as a slow-growing mass between the chest wall muscles and ribs.
- Patients often report pain and swelling, exacerbated by movement.
Observation:
- A case study involved three sisters diagnosed with bilateral elastofibroma dorsi.
- Symptoms included infrascapular swelling and pain, confirmed via radiologic examination.
- Surgical resection of the bilateral tumors was performed on all three sisters.
Findings:
- While elastofibroma dorsi can exhibit familial patterns, genetic analysis in this cohort revealed no prominent chromosomal instability.
- This suggests that genetic predispositions to elastofibroma dorsi may not involve detectable chromosomal alterations.
Implications:
- The findings highlight the potential familial nature of elastofibroma dorsi, even without evident chromosomal abnormalities.
- Further research into non-chromosomal genetic factors or other hereditary mechanisms is warranted.
- This case underscores the importance of considering genetic counseling for affected individuals and their families.
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