Detection of cryptic and variant IGH-MYC rearrangements in high-grade non-Hodgkin's lymphoma by fluorescence in situ hybridization: implications for cytogenetic testing

Fluorescence in situ hybridisation analysis of formalin-fixed paraffin-embedded tissue sections in the diagnostic work-up of non-Burkitt high grade B-cell non-Hodgkin's lymphoma: a single centre's experience

“…Taking this into account, and the fact that 11% of the MYC rearrangements we detected involved a non- IG partner gene and 28% were shown to involve IG -light chain genes, FISH analysis using the MYC break-apart probe in isolation may not be sufficient for accurate assessment of MYC rearrangement status, with prognostic and therapeutic implications. We have previously reported three examples of cryptic IGH-MYC rearrangement which were undetectable using the MYC break-apart probe33 and consequently both probe sets are incorporated into our diagnostic panel. Low-level ICN changes of MYC are common in DLBCL and these copy-number changes have been correlated with statistically significant increases in MYC mRNA levels 14.…”

MYC status determination in aggressive B‐cell lymphoma: the impact of FISH probe selection

“…Although FISH methods are well established in most pathology laboratories, no probe is able to cover all MYC breakpoints described. Therefore, far 5′ and 3′ breakpoints, complex rearrangements and cryptic insertions leading to MYC deregulation may be overlooked . Given the diagnostic and prognostic significance of MYC gene translocation in aggressive B‐cell lymphomas (BCLs), we decided to evaluate the relative frequency of discordant cases and its potential impact on MYC status determination when different probe designs are used.…”

Cryptic insertion of BCL2 gene into immunoglobulin heavy locus in follicular lymphoma with t(6;9)(p23;p13)

“…G-banding analysis of lymph node cells showed 46,XX,t(6;9)(p23;p13) [7]/77,XXX,+X,+3,+5,t(6;9)(p23;p13),−7,+ der(9)t(6;9)(p23;p13),+12,−15,+17,+18,+20,+21,+22 [5]/46,XX [8] ( Fig. 1A).…”

“…On the other hand, these insertions are rarely found in lymphoid malignancies. There were two cases with ins(14;8)(q32;q24q24) and one case with ins(8;14)(q24;q32q32), both of which were associated with with IGH@/MYC rearrangements [7,8], whereas ins(14;18) or ins(18;14) has never been documented in the Mitelman database [8]. Therefore, only the karyotypes of these three cases with cryptic BCL2 insertions discussed here could be described as ins(14;18)(q32;q21q21).…”