Cytogenetic Aberrations in Perineurioma

Abstract

Only two karyotypes of perineurioma have previously been reported, 46XX,del(10)(q22q24),der(10),del(22)(q11-12q?)/47, idem,+der(10) (in a sclerosing perineurioma of the finger) and 45,XX,add(14)(p13),-22,add(22)(q11.2) (in an intraneural perineurioma). We investigated the clinicopathologic and cytogenetic findings in four consecutive perineuriomas in children, including two small (< or =1 cm) digital sclerosing perineuriomas, a 2-cm intraneural perineurioma, and a 16-cm abdominal soft tissue perineurioma. All lesions showed plump perineurial cells in a complex whorled configuration. Immunohistochemical (strong EMA immunostaining in all cases) and ultrastructural (in three of three lesions examined) evidence of perineurial differentiation was present. The sclerosing perineuriomas showed 46,XY,t(2;10)(p23;q24) and 47,XX,add(3)(q23),add(6)(q21),-5,-9,-10,-22,+mar1,+mar2,+mars; the intraneural tumor showed 46,XX,add(2)(q11.2),add(3)(q12); and the abdominal soft tissue perineurioma showed 46,XX,t(8;9)(q13;q22). Metaphase FISH analysis for an ALK gene rearrangement in the sclerosing perineurioma with t(2;10) was negative; the ALK signal remained on the der(2). We conclude that perineuriomas display mostly simple karyotypes, characterized by one or few chromosomal rearrangements or numerical changes. In conjunction with the previously published sclerosing perineurioma karyotypes, the findings of chromosome 10 aberrations, t(2;10)(p23;q24) and monosomy 10 in two sclerosing perineuriomas, indicate that rearrangements and/or deletions of 10q are a consistent finding in this variant of perineurioma. The findings also expand previous assertions that chromosome 22 abnormalities are pathogenetic in perineurioma and suggest that diverse genetic tumorigenic mechanisms may exist, possibly depending on the subtype.

Extraneural Sclerosing Perineurioma of the Buccal Mucosa: A Case Report and Clinicopathologic Review

“…Although initial reports suggested that no apparent association existed with either neurofibromatosis type 1 (NF1) or neurofibromatosis type 2 (NF2), [20] extraneural perineuriomas have recently been reported in patients with both disorders [21,22]. Similar to schwannoma and neurofibroma, NF2 deletions (monosomy 22) have been observed in the perineurioma including the extraneural sclerosing variant [23,24] and aberrations in chromosome 10 have been shown to be a feature of the sclerosing perineurioma in particular [25].…”

Intraoral Perineurioma, Soft Tissue Type: Report of Five Cases, Including 3 Intraosseous Examples, and Review of the Literature

“…Sclerosing perineuriomas occur almost exclusively in the hands of young adults, often males, and present as small, painless nodules characterized by proliferation of epithelioid and spindle cells in a trabecular or whorled pattern within a markedly dense sclerotic stroma. Interestingly, deletion of chromosome 10q is a feature of sclerosing perineuriomas [31], a genetic signature different from the chromosome 22 abnormalities often seen in conventional STP. With respect to perineuriomas, only one oral example of reticular perineurioma, a gingival tumor, has been reported [13].…”

Perineurioma of the Adrenal Gland

“…Most have abnormalities of chromosome 22 [23][24][25][26][27] with deletions and point mutations of the NF2 gene on 22q11-q13.1 [25,26]. Chromosome 10q rearrangements or deletions in sclerosing perineuriomas [24,26] and a loss of chromosome 13 in extraneural soft tissue perineurioma [27] have also been reported. Our tumor has the conventional appearance of perineurioma, confirmed by positivity with EMA and claudin-1 and electron microcopic studies.…”