Document qkLyVjebGkmMLy3YbxmEjK9GE
Mantle Cell Lymphoma (t(11;14)(q13;q32)): If it is indicated by pathological and immunophenotyping studies or cytogenetics studies show t(1l;14) (70%), FISH for BCLllIgH fusion gene(90%) will be followed, while PCR detects about 30-60% of the rearrangement. Follicular Lymphoma (t(14;lS)(q32;q21)): Aberration of BCL2 expression is found in 90% of FL, and t(14;18) is found cytogenetically in 75% of the FL cases. FISH for BCL2IIgH would confIrm the diagnosis. Anaplastic Large Cell Lymphoma (t(2;5)(p23;q35)): ALK immunophenotyping analysis still is the best for ALCL diagnosis. RT-PCR or DNA PCR is the method of choice for confIrmation of NPM-ALK fusion transcript. FISH for ALK is also available to detect rearrangements involving ALK. Burkitt Lymphoma (Sq24): If Burkitt is diagnosed by pathological studies and/or 8q24 abnormalities are found in cytogenetics studies, FISH for c-MYC is the best to confIrm rearrangement of c-MYC at this time. NHL with Deletion of 6q: It is known as one of the most common chromosome abnormalities in NHL patients without t(14;18). It is present in about 7-14% ofNHL and ALL patients. It could be sole change but most time as secondary changes. Recent studies revealed that del(6)(q25q27) in NHL and del(6)(q2lq23) in ALL. FISH or PCR-based polymorphism studies have been shown to be more sensitive than standard cytogenetics to detect deletion of 6q. Some studies suggested that patients with de16q are shorter survival, but it is still a subject of debate. It might be necessary to study NHL patients with either FISH or PCR for deletion of 6q, and to distinguish two types of 6q deletions in patients del(6)(q25q27) vs del(6)(q2lq23).
Frequency of l4q+ in NHL patients: t(14;18)(q32;q21) > t(8;14)(q24;q32) >t(1l ;14)(q13;q32)
Principal Chromosomal Abnormalities Characterized at the Molecular Level in NHL
Genes Involved
TALlITCRaI(5 TCLlITCRaI(5 BCLllIgH BCL2IIgH BCL3IIgH BCL6IIgH c-MYClIgH
NPMlALK
PAX5IIgH TCLlI TCRaI(5
Abnormality
t(1 ;14)(p32;q11) inv(14)(qllq32) t(1l ;14)(q13;q32) t(14;18)(q32;q21) t(14;19)(q32;q13) t(3;14)((q27;q32) t(8;14)(q24;q32)
t(2;5)(p23;q35)
t(9;14)(p13;q32) inv(14)(qllq32) t(14;14)(q11 ;q32)
Incidence/histo10gical subtype 1-3% <1% MCL FL>DLCL ? DLCL>FL Burkitt
ALCL
plasmacytoid T-PLL
Molecular Detection Southern FISH RT-PCR/FISH PCR/FISH ? Southern FISH FISH
RT-PCR
FISH Southern FISH
Vysis
available available
available for c-MYC available for ALK
ALCL: anaplastic large-cell lymphoma aka Ki-llymphoma with CD30 (Ki-l) antigen MCL: mantle cell lymphoma DLCL: diffuse large-cell lymphoma
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SH ELL-MCCLU RG-059509