Table 1 GTG-banded karyotype and metaphase FISH characterization of intravenous leiomyomatosis cases

1

45,XX,del(12)(q?14q?15),hsr(14)(q2?1),-22[7].ish del(12)(q14.3q14.3)(5′HMGA2-,3′HMGA2-),hsr(14)amp(3'HMGA2)

HMGA2 amplification on abnormal 14q, breakpoint 5' (centromeric) to 3′HMGA2

2^a

45,XX,der(14)t(12;14)(q15;q24),-22.ish der(14)t(12;14)(RAD51L1+,5′HMGA2+,3′HMGA2+)

3 copies of HMGA2, breakpoint 5' (centromeric) to HMGA2

3^b

45,XX,-10,add(11)(q11),der(14)t(12;14)(q15;q24)[12]/45,XX,-10,add(11)(q11),t(12;14)(q15;q24)[3].ish der(14)t(12;14)(5′HMGA2+,3′HMGA2+)/t(12;14)(5′HMGA2-,3′HMGA2-;5′HMGA2+,3′HMGA2+)

Mosaic karyotype with 3 and 2 copies of HMGA2, breakpoint 5' (centromeric) to HMGA2