Translocations & Molecular markers

 

Translocations

t (4;11) = Infantile B-ALL

 

t (1;19) =  E2A-PBX1 translocation =  B-ALL

 

t (11;14) =  Cyclin D1 translocation =  Mantle Cell Lymphoma, Myeloma

 

t (3;14) =  Obital Marginal Zone Lymphoma

 

t (11;18) = Gastric MALT Marginal Zone

 

t (2;5) = ALK+ T-Cell lymphoma 

 

t (5;12) =  PDGFRB re-arrangement = Eosinophilic Myeloid/Lymphoid Neoplasms

 

t (8;9) = PCM1-JAK2 = Eosinophilic Myeloid/Lymphoid Neoplasms

 

t (12;21) = B-lineage ALL (approx. 10 yr old patients)

 

t (8;14), t(8;22), t(2;8) = Burkitt Lymphoma

8 is location of C-MYC. 14 IGH, 22 Lambda LC, 2 Kappa LC

 

t (14;18) = Follicular Lymphoma     

 

t (9;22) =  Philadelphia Chromosome (Commonest translocation in elderly B-ALL) 

 

t (1;22) = Childhood Acute megaloblastic leukaemia  

 

t (6;9) = Acute myelomonocytic leukaemia. Seen in variants with neutrophilic differentiation and multilineage dysplasia.

 

t (15;17) =  Variant APML. The Hb is often normal or near normal.

 

t (16;16) = inv(16) = AML with increase in eosinophil precursors with large purple granules. Charcot-Leyden crystals.  

 

Other Cytogenetics

 

Monosomy 7 = JMML among others

 

Del 4p = PDGFRA re-arrangement = Eosinophilic Myeloid/Lymphoid Neoplasms

 

8p11 = FGFR1 = Eosinophilic Myeloid/Lymphoid Neoplasms

 

 

Molecular Markers

 

MYD88 = Waldenstroms Macroglobulinaemia

 

CSF3R T618I= Chronic Neutrophilic Leukaemia (it is the GCSF receptor gene)

 

SFSB1 + JAK2 V617F combined = RARS-T

 

BRAF V600E = Hairy Cell Leukaemia

 

SET-BP1 = atypical CML