Clinicopathological and interphase cytogenetic analysis of desmoid tumours

Abstract

These results suggest that a subgroup of desmoid tumours at risk of recurrence may be hypervascular lesions associated with trisomy 8.

Minichromosome maintenance (MCM) and AgNOR proteins expression in desmoid tumours: a tissue microarray analysis.

“…Hoos et al [44] did not find nuclear staining for Ki-67 in 24 of the examined cases of aggressive fibromatosis. Neither Kouho et al [45] detected any cells (or were few) with nuclear staining of Ki-67 in 24 desmoid cases.…”

Trisomies 8 and 20 Characterize a Subgroup of Benign Fibrous Lesions Arising in Both Soft Tissue and Bone

“…Several authors have suggested that failure to detect these trisomies by conventional cytogenetic methodologies may be explained by rapid overgrowth of the trisomic cells by diploid populations. 7,8 Fletcher et al 8 and Kouho et al 17 have also observed a correlation between the presence of trisomy 8 and an increased risk of recurrence. In the current study, trisomy 8 was detected in two desmoid tumors; one was a recurrent lesion, and the other was from a patient who was lost to follow-up.…”

“…Cytogenetic and molecular cytogenetic analyses of desmoid tumors are few and are particularly sparse or are nonexistent for desmoplastic fibroma, periosteal desmoid tumor, osteofibrous dysplasia, and fibrous dysplasia. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] To determine the frequency of trisomy 8 and trisomy 20 in additional desmoid tumor cases and to examine their presence in related fibrous lesions of bone, both standard karyotypic analysis and molecular cytogenetic analysis were performed on 22 representative specimens. …”

Diagnosis and multidisciplinary treatment of sporadical desmoid tumors

“…Multiple studies described the clonal nature of desmoids pointing at malignant capacities that place these tumors into the category of fibroblastic malignancies (8,(39)(40)(41)(42)(43). The presence of trisomy 8 and/or 20 (which are non-random clonal aberrations acquired during neoplastic progression) and the proportion of cells with these trisomies vary greatly between desmoid tumor specimens (range 0 to 25%) (8,(42)(43)(44). It can be therefore concluded that trisomies 8 and 20 contribute to neoplastic aberrations in a wide spectrum of pathologic fibrous proliferations, without any distinction between benign or malignant (8,42,43).…”

“…In comparison to other malignancies, desmoids were found with a relatively low expression of metastasis promoting extracellular matrix proteins such as osteopontin and osteonectin, suggested to be the reason for the inability to disseminate (39,45). Other common malignant tumor markers as Ki-67, pRB or Bcl-2 have not been observed to be upregulated in desmoid tissue (39,43,(46)(47)(48). Appropriate tumor markers may explain the clinical behavior of desmoids, and still need to be identified (10).…”