Lymphomas are characterized by heterogeneous biology, pathologic features, and clinical outcome.
They are classified based on the normal counterpart, or cell of origin, from which they arise. Because
lymphocytes have physiologic immune functions that vary both by lineage and by stage of
differentiation; the classification of lymphomas coming from these normal lymphoid populations is
complex. Genomic instability is a feature of lymphomas due to aberrant alterations at genetic,
epigenetic, transcriptional, protein, and dysregulated oncogenic signaling pathways. Detection of
specific chromosomal abnormalities is essential in diagnosing of several lymphoproliferative
disorders. Interphase FISH investigates cytogenetic alterations, the gold standard technique localizes
fluorescent signals to specific interphase non-dividing cells.
Translocations and rearrangements are the common chromosomal alterations of lymphomas
involving proto-oncogenes and tumor suppressors.
The common abnormalities include: t (11;14) (q13; q32) in mantle cell lymphoma and in some cases
of plasma cell myeloma; t(14;18)(q32;q21) in follicular lymphoma; t(8;14)(q21;q32) in Burkitt
lymphoma; t(11;18)(q21;q21) in MALT lymphoma; BCL6 rearrangement in Large B-cell Diffuse
Lymphoma (LBCL); IRF4/DUSP22 rearrangement in LBCL; t(2;5)(p23;q35) NPM-ALK in T-cell
lymphomas. Less commonly are deletions, trisomy 12 or partial trisomy 12q13 in Chronic
Lymphocytic Leukaemia (CLL).
The WHO has recently introduced a particular type of lymphoma morphologically similar to Burkitt
Lymphoma but without t (8;14) (q24; q32): instead, the following entity is cytogenetically
characterized by a peculiar pattern of an 11q aberration consisting of a gain in 11q23.2-23.3 followed
by a telomeric loss in 11q24.1-qter.
This study aims to standardize Interphase FISH for diagnosing lymphoma associated with
immunophenotypic features, focusing our attention on particular cases showing interested genic
abnormalities, such as 11q alterations and t (11;14) in Precursor T-Lymphoblastic Transformation of
Mantle Cell Lymphoma.
During this study, we have also performed ImmunoFISH, a method combining immunolabelling with
fluorescent in situ hybridization (FISH) to simultaneously detect the nucleo-cytoplasmic distribution
of proteins and specific nucleotide sequences within the chromosomes
