Molecular Tests for Leukemia and Lymphoma  


1. Fusion Genes  
 
Tests can be performed on whole blood (>4ml) or bone marrow (>1ml) stored in PAX RNA tubes (available on request).

Disease
Diagnostic / Follow-up
Target
Fusion Product

ACUTE LEUKEMIA

Diagnostic
Multiplex
28 fusion products (see below)

ACUTE LEUKEMIA

Follow-up
t(1;11)(p32;q23)
MLL / AF1p
ACUTE LEUKEMIA
Follow-up
t(1;11)(q21;q23) MLL / AF1q
ACUTE LEUKEMIA
Follow-up
t(1;19)(q23;p13) E2A / PBX1
ACUTE LEUKEMIA
Follow-up
t(3;21)(q26;q22) AML / EAP / MDS / EVI1
ACUTE LEUKEMIA
Follow-up
t(3;5)(q25.1;q34) NPM / MLF1

ACUTE LEUKEMIA

Follow-up
t(4;11)(q21;q23) MLL / AF4
ACUTE LEUKEMIA
Follow-up
t(5;12)(q33;p13) TEL / PDGFRB
ACUTE LEUKEMIA
Follow-up
t(5;17)(q35;q21) NPM / RARA
ACUTE LEUKEMIA
Follow-up
t(6:11)(q27;q23) MLL / AF6

ACUTE LEUKEMIA

Follow-up
t(6;9)(p23;q34) DEK / CAN
ACUTE LEUKEMIA
Follow-up
t(8;21)(q22;q22) AML1 / MGT8
ACUTE LEUKEMIA Follow-up t(9;11)(p22;q23) MLL / AF9
ACUTE LEUKEMIA
Follow-up
t(9;12)(q34;p13) TEL / ABL
ACUTE LEUKEMIA Follow-up t(9;22)(q34;q11)* BCR / ABL
ACUTE LEUKEMIA Follow-up t(9;9)(q34;q34) SET / CAN
ACUTE LEUKEMIA
Follow-up
t(10;11)(p12;q23) MLL / AF10

ACUTE LEUKEMIA

Follow-up
t(11;17)(q23;q21) MLL / AF17

ACUTE LEUKEMIA

Follow-up
t(11;17)(q23;q21) PLZF / RARA
ACUTE LEUKEMIA
Follow-up
t(11;19)(q23;p13.1) MLL / ELL
ACUTE LEUKEMIA
Follow-up
 t(11;19)(q23;p13.3) MLL / ENL
ACUTE LEUKEMIA
Follow-up
t(12;21)(p13;q22)* TEL / AML1

ACUTE LEUKEMIA

Follow-up
t(12;22)(p13;q11) TEL / MN1
ACUTE LEUKEMIA
Follow-up
t(15;17)(q22;q21) PML / RARA
ACUTE LEUKEMIA
Follow-up
t(16;21)(q11;q22) TLS / ERG
ACUTE LEUKEMIA
Follow-up
t(17;19)(q22;p13) E2A / HLF

ACUTE LEUKEMIA

Follow-up
inv(16)(p13;q22) CBFb / MYH11
ACUTE LEUKEMIA
Follow-up
t(X;11)(q13;q23) MLL / AFX
ACUTE LEUKEMIA
Follow-up
TAL1deletion(p34) SIL / TAL1

AML

Diagnostic
t(1;22)(p13;q13) OTT / MAL
CML
Diagnostic
t(9;22)(q34;q11)*
BCR / ABL

CML

Follow-up
t(9;22)(q34;q11)*
BCR / ABL
HYPEREOSINOPHILIC SYNDROME Follow-up t(5;12)(q33;p13) TEL / PDGFRB
HYPEREOSINOPHILIC SYNDROME

CHRONIC EOSINOPHILIC LEUKEMIA 		Diagnostic  del(4)(q12q12)  FIP1L1-PDGFRA 

LEUKEMIA
Diagnostic
t(8;9)(p21-23;p23-24)
PCM1 / JAK2
LYMPHOMA
Diagnostic
t(14;18)(p32;q21)
BCL-2 / JH
LYMPHOMA
Follow-up
t(14;18)(p32;q21)
BCL-2 / JH

AML: acute myeloid leukaemia
CML: chronic myeloid leukaemia
CLL: chronic lymphatic leukaemia
T-ALL: T lineage acute lymphoblastic leukaemia

* also quantitative determination

 

2. Gene Overexpression  
 
Tests can be performed on whole blood (>4ml) or bone marrow (>1ml) stored in PAX RNA tubes (available on request).  

 
Disease Diagnostic / Follow-up Test
ACUTE LEUKEMIA Diagnostic / Follow-up WT1 overexpression

CLL

 Diagnostic ZAP-70 overexpression
LYMPHOMA Diagnostic cyclinD1 overexpression

T-ALL

 Diagnostic Hox11L2 overexpression
 

 

3. Rearrangements in IGH or T-cell receptor Genes  
 
Tests can be performed on whole blood (>4ml) or bone marrow (>1ml) stored in EDTA tubes.
Tests can also be performed on biopsies upon request (please contact us in advance).  

 
Disease Diagnostic / Follow-up Test
LYMPHOMA OR ACUTE LEUKEMIA Diagnostic IgH gene rearrangement
( FR2, FR3 )
LYMPHOMA OR ACUTE LEUKEMIA Diagnostic TCR Gamma gene rearrangement
( J, JP )
 

 

4. Miscellaneous  
 
Tests can be performed on whole blood (> 4ml) or bone marrow (> 1ml) stored in PAX RNA tubes.

Disease
Diagnostic / Follow-up
Target
Comment
ACUTE LEUKEMIA
Diagnostic & Follow-up
 Activating mutation (Internal tandem duplication) of the FLT3 Responsiveness to Various FLT3 Inhibitors
ACUTE LEUKEMIA
Diagnostic & Follow-up
 Activating mutations in exon 14 of the FLT3 Responsiveness to Various FLT3 Inhibitors
ACUTE MYELOID LEUKEMIA Diagnostic & Follow-up Mutations in Exons 8, 11 AND 17 in KIT Gleevec/Imatinib Responsiveness
ACUTE MYELOID LEUKEMIA
 Follow-up Exon 20 Mutations in FLT3 (Including ASP835)
 Responsiveness to Various FLT3 Inhibitors

BONE MARROW TRANSPLANT: ENGRAFTMENT CONTROL
Follow-up
STR Markers
Chimerism

CHRONIC MYELOID LEUKEMIA AND ACUTE LEUKEMIA
Diagnostic & Follow-up
Mutations in Exons 4-10 of the ABL Gene (Including T315I)
Gleevec/Imatinib Responsiveness
CHRONIC MYELOMONOCYTIC LEUKEMIA (CMML)
 Diagnostic V617F Mutation in JAK2  
ESSENTIAL THROMBOCYTHEMIA Diagnostic V617F Mutation in JAK2  
HYPEREOSINOPHILIC SYNDROME
 Diagnostic V617F Mutation in JAK2  
MAST CELL LEUKEMIA
 Diagnostic & Follow-up Mutations in Exon 17 in KIT
 Gleevec/Imatinib Responsiveness
MASTOCYTOSIS Diagnostic & Follow-up Mutations in Exon 17 in KIT
 Gleevec/Imatinib Responsiveness
MYELOID METAPLASIA WITH MYELOFIBROSIS
 Diagnostic V617F Mutation in JAK2  
NEUTROPHILIC LEUKEMIA (CNL)
 Diagnostic V617F Mutation in JAK2  
POLYCYTHEMIA VERA
 Diagnostic V617F Mutation in JAK2
  
SYSTEMIC MASTOCYTOSIS
 Diagnostic V617F Mutation in JAK2  
THE MYELODYSPLASTIC SYNDROMES
 Diagnostic V617F Mutation in JAK2  

 

 



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