The Breakage-Fusion-Bridge Cycle Producing MLL Amplification in a Case of Myelodysplastic Syndrome

Table 1

The karyotype before and after FISH. Elements of the karyotype that are different after FISH are in bold type.

Karyotype at diagnosis (RAEB-2) by G-band analysis

Revised karyotype at diagnosis after FISH, M-FISH and M-BAND analysis

43~44,XX,add(5)(q13),−7,dic(12;15)(p12;p11.2),; −18,+r1[cp6]/43~44,sl,der(11)r(11;?)(p15q23;?)[cp8]/42,; sl,−11,−dic(12;15),+der(12;11;?)(12qter->12p13::11p15->11q25::?::15q11.2->15qter),−r1[4]/86,sdl1x2 [3]

43,XX,del(5)(q14q35),−7,dic(12;15)(p13.2;p11.2),−18[2]/43,sl,r(11)[7]/43~44,sdl1, −dic(12;15),+r(12),+der(15)(12qter->12q13::15q15->15q?11.2::12p12.3->; 12p13::15p10->15q10::12q13->12q12::15q15->15qter)[cp4]/43~44,sdl1, −dic(12;15),+der(12)t(12;15)(p13;q22.3),+r(15)[cp3]/43~44,sl, −dic(12;15),+r(12),+der(15)[cp3]/43~44,sl,−dic(12;15),+der(12),+r(15)[cp3]/42,sl, −11,+der(11;15;12)(15qter->15q14::11q22.2->11q23.3::11q22.1->11q25::11q25->; 11p15.5::11q?23.3->11q?23.1::15p11.1->15q14::11q?24->11q?25::12p?13->12qter),; −dic(12;15)[4]/86,sdl1x2[3].ish r(11)(MLLx5),der(11;15;12); (MLLx5,D12Z3+)