Chromosome aberrations in desmoid tumors Trisomy 8 may be a predictor of recurrence

Desmoid Tumors in Familial Adenomatous Polyposis

“…These mutations prevented phosphorylation of threonine and serine residues, promoting β-catenin accumulation at the nuclear level, with subsequent activation of the T-cell factor and transcription of target genes. subsequent sanger and wholeexome sequencing analyses, conducted on higher number of patients, revealed that mutations affecting CTNNB1 are even more frequent (around 85-90% of cases), confirming that nuclear accumulation of β-catenin is a key event during the development of aggressive fibromatosis (46,47 (48,50).…”

Cytogenetic, Clinical, and Morphologic Correlations in 78 Cases of Fibromatosis: A Report from the CHAMP Study Group

“…Whereas nothing is known about the molecular alterations resulting from the two trisomies, the loss of 5q, either through deletions or monosomy, is thought to represent one step in the functional inactivation of the APC gene (26). It has previously been suggested that the presence of trisomy 8, as detected by chromosome banding analysis or interphase-FISH, could be associated with increased risk of local recurrence (27). In the present series, however, no clear support for this hypothesis could be found.…”

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. …”