Beyond MDM2 amplification: chromosomal translocations as diagnostic drivers in adipocytic tumours-a histopathological and molecular reappraisal.
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INTRODUCTION: Cytogenetics analysis of adipocytic tumours revealed varieties of chromosomal translocations beyond MDM2 amplification, so, this report aimed to identify these translocations and recognise the altered genes with their fusion partners. MATERIALS AND METHODS: The materials were collected from different databases including PubMed, and Scopus. RESULTS: The collected data revealed that HMGA2 gene alteration is the initial finding. In addition, t(9;12)(q33;q14) is a recurring cytogenetic aberration and engenders an HMGA2::GSN chimera. Translocation involving t(3;12)(q28;q14.3) is the most common translocation followed by t(1;12)(p32;q14) in subset of lipomas. Furthermore, three-way translocation t(1;4;12)(q21;q27~28;q14~15) have been reported. In paediatric lipoma, two reports revealed translocations; the first one revealed a translocation involving t(8;13)(q21;q22) and HMGA2::NFIB gene fusion, and in the second report, the translocation t(9;12)(p22;q14) has been identified. Angiolipoma, chondroid lipoma, Myolipoma, hibernoma, spindle cell/pleomorphic lipoma, revealed translocation t(X;2)(p22;p12), t(11;16)(q13;p1213), 46,XX,t(9;12)(p22;q14) t(9;11)(q34;q13), t(4;6)(q25;p23)/46,X,tas(Y;21)(p11;p13), respectively. The presence of PLAG1 alteration is a fundamental oncogenic event that fused with other partners mainly COL1A2 gene and HAS2, and rarely with RAD51L1, and COL1A2, RAB2A, COL3A1, PCMTD1, SRSF3, HNRNPC, YWHAZ, CTDSP2, PPP2R2A, BOC, DDX6,, KLF10, and KANSL1L, SDCBP, HNRNPA2B1, other fusions like EP400::HMGA2 and FGD6::HMGA2 may be found. Myxoid liposarcoma revealed that the incidence of translocation is t(12;16)(q13;p11.2) FUS::DDIT3 is quite common, while t(12;22)(q13;q12) EWSR1::DDIT3 is rare. Recently, t(12;22)(q13;q12) has been described. CONCLUSION: HMGA2 and PLAG1 are considered the most important altered genes in most adipocytic tumours subset and lipoblastoma, and identification of their partners is valuable in providing the accurate diagnosis and management especially when the histopathologic diagnosis is unclear.