Julia A. Bridge

Clonal chromosomal abnormalities in desmoid tumors. Implications for histopathogenesis.

Desmoid tumors (aggressive fibromatosis) are regarded as lesions of uncertain histopathogenesis. Cytogenetic analyses of 26 desmoid tumor specimens from abdominal or extraabdominal sites of 22 patients with or without Gardners syndrome (GS) showed clonal karyotypic abnormalities in 7 cases, random abnormalities in 14 cases, and striking telomeric fusion in 5 cases. Loss of chromosome Y, a reported feature of fibromatosis in penile and palmar locations, was detected as a clonal aberration in two patients. Additionally, involvement of 5q was observed in six patients, two of whom had GS. Clonal interstitial deletions of 5q were observed in three patients, one with and two without GS. These findings confirm a clonal and probable neoplastic origin for desmoid tumor and suggest that abnormalities of the Y chromosome and 5q may be important in the genesis of this neoplasm.

Cytogenetic analysis of dermatofibrosarcoma protuberans

A case of dermatofibrosarcoma protuberans that occurred in an old burn scar over the anterior chest wall of a 46-year-old man is reported. Cytogenetic analysis of the tumor cells showed the presence of two abnormal clones: 47,XY, +8 and 48,XY, +8, +r.

Cytogenetic findings in clear cell sarcoma of tendons and aponeuroses: Malignant melanoma of soft parts

Cytogenetic analyses of clear cell sarcomas from two patients are reported. Clonal numerical and structural abnormalities were detected in both specimens, with specific involvement of chromosomes 2 and 22 in each.

Cytogenetic findings and biologic behavior of giant cell tumors of bone

Giant cell tumor of bone is a benign but often aggressive lesion with a distinct tendency toward local recurrence and, rarely, malignant transformation. Over a 3‐year period, 20 giant cell tumors from 14 different patients were cytogenetically characterized. Random chromosomal abnormalities were detected in 14 of the 20 specimens and clonal chromosomal abnormalities were detected in six. An unusual anomaly, telomeric fusion, was the most striking random chromosomal abnormality detected. A comparison of the presence or absence of cytogenetic aberrations and the clinical behavior of these neoplasms was studied as well as a comparison of the aberrations in the initial specimen with those in subsequent specimens. Chromosomal abnormalities were detected in all but one of the ten tumors shown to be locally aggressive, recurrent, or metastatic. (The abnormalities observed in five of these tumors were clonal.) There were no chromosomal abnormalities present in three of four tumors that behaved in an innocent fashion. These findings support the presence of chromosomal abnormalities in giant cell tumors (telomeric fusion in particular) and suggest that cytogenetic analysis may be useful in predicting the biologic behavior of these neoplasms.

Translocations involving chromosomes 2 and 13 in benign and malignant cartilaginous neoplasms

Cytogenetic analysis of a chrondromyxoid fibroma of bone and an extraskeletal myxoid chondrosarcoma revealed clonal chromosomal rearrangements involving chromosomes 2 and 13. The significance of these findings in these neoplasms of cartilaginous origin, one benign and one malignant, is discussed.

Translocation t(X;18) in orofacial synovial sarcoma

Cytogenetic analysis of a synovial sarcoma of the base of the tongue showed a reciprocal translocation involving chromosomes X and 18 [t(X;18)(p11.2;q11.2)]. This is a translocation recently reported to be characteristic of synovial sarcomas of the extremities. The histogenesis of synovial sarcoma is controversial. Our discovery of this translocation in an oral synovial sarcoma confirms the unity of origin of this neoplasm with the far more common synovial sarcomas of the extremity. Karyotypic analysis may prove useful in confirming the diagnosis of this uncommon neoplasm.

Cytogenetic findings in malignant fibrous histiocytoma

The cytogenetic findings of two malignant fibrous histiocytomas from two unrelated patients are discussed. Both tumors were characterized by trisomy 7.

Cytogenetic analysis of two sacral chordomas

Cytogenetic analysis of two sacral chordomas revealed two distinct abnormal clones in one of the cases: 44,XY,t(1;3)(q42;q11), -2,der(7)t(2;7)(q23;q32), -21 and 46,X,t(Y;8)(q12;q22), t(1;14)(p34;q32),t(5;10)(q13;p11). All cells analyzed from the second case were cytogenetically normal. To the best of our knowledge, chordomas have not previously been subjected to cytogenetic analysis.

Significance of chromosomal abnormalities in a malignant giant cell tumor of bone

Cytogenetic analysis of a malignant giant cell tumor of the sacrum from a 62-year-old female revealed the following chromosomal complement: 47,XX, -1, -11, +22,del(2)(p22),t(7;7) (p22;q32), +der(1)t(1;11;21)(p32;q13;q22), +der(19)t(19;?)(q13.4;?), der(8)t(8;?)(p11;?), der(7)t(17;?)(p13;?). Metaphase cells with 92-127 chromosomes sharing identical structural abnormalities detected in the near-diploid cells were also observed. Several of these abnormalities have previously been described in the benign giant cell tumors supporting a direct relationship between these benign and malignant neoplastic counterparts.

Desmoplastic fibroma arising in fibrous dysplasia: chromosomal analysis and review of the literature

A desmoplastic fibroma of bone arose in the fibula of a 17-year-old boy with fibrous dysplasia. This may be the second case of this rare histopathologic association reported in the literature. Benign bone tumors have not previously been subjected to cytogenetic analysis. Analysis of this case revealed a primary abnormal clone trisomic for both chromosomes 3 and 5 and two subclones, one trisomic for chromosome 3 and one trisomic for chromosome 5. This case may also present the first description of nonrandom karyotypic abnormalities in a benign neoplasm of bone.