ISCN 2009 is an essential document used by Cytogeneticists and other professionals to describe the chromosome constitution. As an international standard it enables cytogeneticists across the world to understand the exact nature of the chromosome constitution in an individual, regardless of language.

All UK NEQAS EQAs will be assessed against ISCN 2009 from April 2010. This will give laboratories six months to incorporate the new ISCN into their diagnostic reports.

The errors in ISCN 2005, identified by UK NEQAS, have been corrected in ISCN 2009.

 

 

Blood 2009

Case 1: 46,XX,del(16)(q12.1q13)

Case 2: 46,Y,t(X;2)(q22.3;q33)

Case 3: 46,XX,inv(8)(p11.2p21.3)

Solid Tissues

Case A: 47,XY,+16

Case B: 46,XX,del(13)(q3?2) or 46,XX,add(13)(q3?2)

 Lymphoma and LPD 2009

Case 1:  nuc ish(BCL6x2)(5’BCL6 sep 3’BCL6x1)[96/100],(MYCx3)[93/100],(IGHx3,BCL2x2)[84/100]

Case 2:  nuc ish(ATMx2,TP53x1)[94/100]

ALL 2009

Case A: 47,XY,+9,-21,+mar[10].nuc ish (ABL1x3,BCRx2)[200],(MLLx2)[200], (ETV6x2),amp(RUNX1)[200]

Case B: 46,XY,inv(12)(p13q13)[8]/46,XY[5].nuc ish(ABL1,MLL,BCR)x2[200],(ETV6,RUNX1)x3(ETV6 con RUNX1x1)[178/200]

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