ZAC-GGM Molecular Tests for Leukemia and Lymphoma

Molecular Tests for Leukemia and Lymphoma

（ 淋巴瘤和白血病的分子检测）

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