OBJECTIVE
This study aims to determine whether 1p deletion defines a subset of cellular leiomyomata (CL), a hypercellular variant of uterine leiomyomata (UL) that may have delayed malignant potential, and correlate this genetic change with clinical and pathologic characteristics including those present in uterine sarcomas.
STUDY DESIGN
Available CL cases at Mayo Clinic (n=101) and variant cases reported by Giuntoli et al. (n=16) were identified. Each case with sufficient tissue that met histologic criteria for CL when reviewed by a single pathologist underwent interphase FISH to determine the presence of 1p deletion. Clinical characteristics of women with confirmed CL were compared on the basis of 1p deletion status using univariate analysis.
RESULTS
Of the Mayo cohort of histologically confirmed CL, 23% had deletion of 1p. Women with this subset of CL when compared to those without 1p deletion were more likely to be postmenopausal (P=0.049) and their uteri tended to be heavier (P=0.039) with a larger dominant leiomyoma (P=0.030). The pathological features associated with 1p deletion were high cellularity (P=0.036) and hyaline necrosis (P=0.047), which remained significant after inclusion of the CL cases from the Giuntoli et al. series.
CONCLUSION
Deletion of 1p occurs in approximately one-quarter of CL. This genetic alteration is potentially associated with clinicopathologic features present in uterine sarcomas, suggesting a distinct clinical entity that may have malignant potential. Our findings are particularly pertinent considering the increased preference for uterine-sparing options in leiomyoma treatment, suggesting assessment of 1p deletion status in CL may influence clinical surveillance decisions.