Background: Leiomyomatosis peritonealis disseminata (LPD) is a rare disease characterised by the subperitoneal proliferation of smooth muscle cells that form benign nodules. A few studies have aimed to reveal the pathogenesis of LPD without reaching a clear explanation.
Methods: Karyotype analysis and array-comparative genomic hybridization (aCGH) of a human LPD case were performed to evaluate the role of chromosomal abnormalities in LPD pathogenesis.
Results: The LPD nodules showed a 45, XX, del(7p), t(11; 17) (q23;q25),-22 de novo karyotype, and the aCGH analysis confirmed these deletions at 7p22.3-p12.1 (1,862,362-52,766,911 bp) and 22q11.23-q13.33 (21,973,915-49,265,116 bp) with lengths of 50.9 Mb and 27.3 Mb, respectively.
Conclusion: In this study, we described two large novel aberrations - deletions in chromosome 7 and 22 - that might play an important role in LPD disease. These findings might contribute to new insights to unravel the pathogenesis of LPD and develop further clinical treatments. © 2015 S. Karger AG, Basel.