TESTS AVAILABLE: Karyotyping and FISH
FISH:
AML with t(8;21) - t(8;21)(q22;q22) AML1/ETO Dual Colour, Dual Fusion Translocation Probe
Acute promyelocytic leukaemia with t(15;17)- t(15;17)(q24;q21.1) and variants PML/RARA Dual Colour, Dual Fusion Translocation Probe and/or RARA Dual Colour, Break Apart Rearrangement Probe
AML with inv(16) or t(16;16)- inv(16)(p13q22) or t(16;16)(p13;q22) CBFB/MYH11 Dual Fusion 16q22/16p13 Translocation Probe
AML with 11q23 abnormalities- 11q23 rearrangements MLL Dual Colour, Break Apart Rearrangement Probe
AML with 3q abnormalities- inv(3)(q21q26), t(3;3)(q21;q26) EV11 Break Apart Rearrangement Probe
AML and MDS ( therapy related:(secondary MDS/AML)- Alkylating Agent Related: Monosomy 5/5q deletion Del(5q) 5q31 Deletion 5p15.31 Probe Monosomy 7/7q deletion Del(7q) 7q22.1/7q31 Deletion Probe;
Topoisomerase II inhibitor-related : 11q23 rearrangement : MLL Dual Colour, Break Apart Rearrangement Probe
Rapid FISH for t(15;17) on a direct culture is advised. FISH studies for other abnormalities can be done if suggested by morphology or by clinician request.
Clinical details
AML is s neoplastic disorder that results from a block in the differentiation of haematopoietic progenitor cells along with uncontrolled proliferation. Cytogenetics is one of the most important prognostic factors and WHO classification recognised recurrent cytogenetic abnormities in its revision in 2008. These abnormalities are AML with t(8;21)(q22;q22) RUNX1/RUNX1T1(AML1),AMLwith inv(16)(p13.1q22) or t(16;16)(p13.1:q22) CBFB/MYH11, acute promyelocytic leukaemia with t(15;17)(q22;q12) PML/RARA. All of these abnormalities are associated with a favourable prognosis. AML with t (9; 11) (p22; q23) MLLT3-MLL and a normal karyotype is associated with an intermediate prognosis. AML with t(6;9)(p23;q34) DEK-NUP214, inv(3)(q21q26) or t(3;3)(q21;q26.2) RPN1/EV11, t(9;22)(q34;q11.2), complex karyotype, MLL rearrangement, -5, 5q-, -7, 7q- are all associated with a poor prognosis. In AML the prognostic implications are important as they are used in stratified treatment regimes.For APML the other variant partner of RARA (eg PLZF) is recognised as separate entities as they lack typical morphology and is resistant to ATRA therapy. For all MLL rearrangements that involve partner genes other than MLLT3 should be specified in the diagnosis. In AML with MDS related changes, which in most cases occur in elderly patients, there are certain cytogenetic changes which are sufficient to confirm the diagnosis. This is relevant only in cases which have over 20% blasts. These are -7/del7q, -5/del5q, i(17q),i(17)(p), -13/del13q, del11q, del12p/t(12p),del 9q, and idic(X)(q13). A number of balanced translocations which are associated with both MDS and therapy related AML can be found in the WHO classification tables and include t(3;21)(q26.2q22.1) and t(3;5)(q25;q34).Approximately 40% of new diagnostic AML cases have a normal karyotype but most of these harbour molecular lesions such as FLT3 ITD and NPM1 mutation.
Related condition
AML,APML, AML/MDS
Testing site
Synnovis : Genomics : King's College Hospital
Laboratory
SE-HMDS Cytogenetics
Sample type and volume required
BONE MARROW (preferred) or in the event of BM aspirate not being available - Blood in Lithium Heparin can be used (if circulating blasts more than 20%).
Special sample instructions
All samples must be delivered to the laboratory within 24 hours of collection.
Turnaround time
New diagnosis/ relapse samples - 2 working days.
Follow up - 5 working days.
Rapid FISH if appropriate within 1 working day.
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