Cutaneous aneurysmal fibrous histiocytoma with a t(12;19)(p12;q13) as the sole cytogenetic anomaly

LAMTOR1-PRKCD and NUMA1-SFMBT1 fusion genes identified by RNA sequencing in aneurysmal benign fibrous histiocytoma with t(3;11)(p21;q13)

“…As regards aneurysmal BFH, only a single case was reported with t(12;19)(p12;q13) as the sole chromosomal abnormality [13]. The translocation we found, t(3;11)(p21;q13), was reported before in a case of lipoma in a patient with the MEN1 syndrome who carried a germline deletion on 11q13.1 encompassing the entire MEN1 gene [34].…”

“…Not only is this fusion recurrent (reported in two cases of BFH, the present study and [18]), but also the current literature indicates that fusions in which a member (PRKCA, PRKCB or PRKCD) of the family coding for protein kinase C is fused to a gene encoding a membrane-associated protein might be the tumorigenic mechanism Page 12 of 20 13 in BFH [17,18]. The fact that there is a recurrent SLC44A1-PRKCA fusion in papillary glioneuronal tumors carrying the translocation t(9;17)(q31;q24), lends further strength to the argument that fusion genes in which a member of the family coding for protein kinase C is involved, may be tumorigenic [46].…”

“…Fluorescence in situ hybridization showed that the breakpoints on chromosomes 12 and 19 were between the ETV6 and PIK3C2G gene loci and proximal to the BCL3 gene, respectively [13].…”

“…The genetic information on aneurysmal BFH is restricted to a single case, cytogenetic analysis of which detected the translocation t(12;19)(p12;q13) as the sole chromosomal abnormality [13].…”

“…However, data supporting a monoclonal origin [12] and the demonstration of clonal chromosome abnormalities in at least some BFHs support a neoplastic pathogenesis [13][14][15][16].…”