Ja. Bridge et Aa. Sandberg, Cytogenetic and molecular genetic techniques as adjunctive approaches in the diagnosis bone and soft tissue tumors, SKELETAL RA, 29(5), 2000, pp. 249-258
Important and meaningful advances have been made in mesenchymal tumor cytog
enetics during the last two decades. A number of bone and soft tissue tumor
s have been shown to have recurrent, if not specific, chromosomal changes,
particularly translocations. These changes not only serve as aids in the di
agnosis and classification of bone and soft tissue turners, especially in t
he differential diagnosis of those of confusing nature, but have also guide
d molecular studies in establishing the underlying genes involved. To date,
a number of turner-specific gene fusions have been identified and many hav
e been shown to encode aberrant transcription factors. These key biological
events in bone and soft tissue tumors are crucial not only to our understa
nding of the sarcomagenetic processes leading to the various tumors, but al
so ultimately in the design of specific therapies tailored to the genetic e
vents in mesenchymal neoplasms.