ABSTRACT
Trisomy 8 and trisomy 20 are nonrandom aberrations in desmoid tumors. The presence of these trisomies in related benign fibrous lesions of bone has not been previously addressed. In this study, 22 specimens from 19 patients diagnosed with desmoid tumor, desmoplastic fibroma, periosteal desmoid tumor, osteofibrous dysplasia, or fibrous dysplasia were examined by cytogenetic analysis of short-term cultures and bi-color fluorescence in situ hybridization of cytological touch preparations or paraffin-embedded tissue with centromeric probes for chromosomes 8 and 20. Trisomy 8 and trisomy 20 were detected by molecular cytogenetic methodologies in 15 specimens, including 10 primary bone lesions. Traditional cytogenetic analysis revealed trisomy 8 in two cases of osteofibrous dysplasia. Our findings demonstrate that trisomy 8 and trisomy 20 are also nonrandom aberrations in histologically similar, but clinically distinct, benign fibrous lesions of bone.
Subject(s)
Chromosomes, Human, Pair 20 , Chromosomes, Human, Pair 8 , Fibromatosis, Aggressive/genetics , Fibrous Dysplasia of Bone/genetics , Trisomy , Adolescent , Adult , Child , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Male , Middle AgedABSTRACT
Tumor specific chromosomal abnormalities have been identified in several histologic subtypes of benign and malignant bone tumors. These anomalies have proven to be useful diagnostically. Characterization of recurrent chromosomal abnormalities also has provided direction for molecular investigations of pathogenetically important genes. Cytogenetic reports of chondroblastoma, a rare benign bone tumor, are few. Cytogenetic analysis of a benign and a malignant chondroblastoma in this study revealed the following abnormal chromosomal complements: 47,XY,+5,t(5;5)(p10;q10) and 45, XY,del(2)(p23),del(3)(q23q27),dup(8)(q12q21.), del(11) (q14q23), -13, add (17) (q25) x 2, respectively. Although a specific chromosomal abnormality has not yet emerged for chondroblastoma, abnormalities of chromosomes 5 and 8 have been reported previously in this neoplasm, suggesting preferential involvement of these two chromosomes.
Subject(s)
Chondroblastoma/genetics , Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, Pair 5 , Chromosomes, Human, Pair 8 , Femoral Neoplasms/genetics , Spinal Neoplasms/genetics , Adult , Humans , Karyotyping , MaleABSTRACT
In this study, cytogenetic analysis of two low-grade chondrosarcomas revealed relatively simple chromosomal complements with structural rearrangements involving chromosomes 1, 6, and 12 [46,XY,add(16)(q24)[3]/46,XY,t(1;20)(q21;q11),t(6;17)(q23;q23)[3]/46,XY, t(4;14)(q12;q24),t(5;6)(q12;p21) [2] and 45,XY,t(12;16)(q13;q24),-14[17]/44,idem,add(4)(p16),-17,[2] respectively]. Previously published reports of chondrosarcoma have revealed structural abnormalities of chromosomes 1, 6, 9, 12, and 15 as common. Also, a correlation between the simplicity or complexity of the abnormalities seen and histologic grade has been suggested. The findings of the current study support these earlier observations.
Subject(s)
Chondrosarcoma/genetics , Translocation, Genetic , Chondrosarcoma/pathology , Humans , Karyotyping , Male , Middle AgedABSTRACT
Cytogenetic analysis of a dedifferentiated chondrosarcoma with a fibrosarcomatous component revealed the following chromosomal complement: 47,XX,i(1)(q10), add(6)(q13),+7,+8,t(10;12) (p11.2;q11.2),+14,-15,-17, add(19)(q13,4). Chromosome studies of dedifferentiated chondrosarcoma are sparse. Three of the anomalies in the present study are similar to those previously described in dedifferentiated chondrosarcoma.
