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Biomedical subjects

J A Bridge

Publications and source records attributed to J A Bridge.

At least 91 records · Page 5Linked to original sources

Giant cell tumor of bone. Chromosomal analysis of 48 specimens and review of the literature.

Giant cell tumor of bone (GCT) is a distinct clinical, radiographic, and pathologic benign entity that constitutes 5% of all primary bone tumors. For a 5-year period, 47 benign GCTs and 1 malignant GCT from 34 different patients were cytogenetically characterized. Analysis showed clonal karyotypic abnormalities in 16 specimens. Clonal structural abnormalities detected in more than one patient included translocations involving 11p15, fus(14p;21p), and fus(15p;21p). None of the clonal numerical abnormalities observed occurred in more than one patient. Thirty-seven of the 44 successfully analyzed specimens (84%) demonstrated telomeric fusion, with most frequent involvement of chromosomal telomeres 11p, 13p, 15p, 18p, 19p, and 21p. We also compared the presence or absence of random and/or clonal karyotypic abnormalities with clinical behavior to determine if a relationship existed. Most notably, chromosomal abnormalities were detected in all 13 successfully analyzed recurrent lesions, five of which were clonally aberrant. This study summarizes the cytogenetic findings and their relevance in 48 specimens analyzed at our institution and reviews the findings of the 18 other published cases.

Adolescent↗

Trisomy 2 in proliferative fasciitis.

We report trisomy 2 as the sole clonal karyotypic abnormality in a case of proliferative fasciitis. To our knowledge, this is the first cytogenetic report of proliferative fasciitis.

Aged↗

Cytogenetics of sacral chordoma.

Only four cases of chordoma have been described cytogenetically. We report the cytogenetic findings of a fifth case. Chromosome analysis of a primary sacral chordoma from a 69-year-old man showed the following chromosome complement: 43,XY,-2,-3,del(4)(q32),-6,+7,-11,der(12)t(9;12)(q12;p11),add(16)(q23),- 20,add(22)(q13),+mar.

Aged↗

Significance of both numerical and structural chromosomal abnormalities in clear cell sarcoma.

We analyzed cytogenetically two cases of clear cell sarcoma. The t(12;22)(q13;q13) hypothesized to be characteristic of clear cell sarcoma was detected in one of the two cases. Although this translocation was not observed in the other case; trisomy of chromosome 22 was, as were other numerical abnormalities. This latter observation has also been described in other reported studies of clear cell sarcoma. These findings confirm the nonrandomness of t(12;22)(q13;q13) in clear cell sarcoma, but also suggest that in its absence other abnormalities of chromosome 22 are significant. Trisomy 8, noted in both cases we report, as well as in previous studies, also appears to play an important role in clear cell sarcoma.

Adult↗

Clonal karyotypic aberrations in enchondromas.

Enchondromas, benign cartilaginous tumors arising within the medullary cavity of bone, are frequently difficult to differentiate from their malignant counterpart. In this study, cytogenetic analysis was performed on seven cases of solitary enchondroma. Normal karyotypes were observed in five cases. Clonal abnormalities were detected in two cases. An isochromosome of the short arm of chromosome 6 characterized one case, and t(12;15)(q13;q26) in addition to random numerical and structural abnormalities such as telomeric association was observed in the other case. An i(6p) and structural rearrangements involving 12q13 previously have been described in chondrosarcoma. Our findings suggest that similar clonal karyotypic abnormalities exist in benign and malignant cartilaginous neoplasms.

Adolescent↗

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.

Aged↗

Clonal chromosomal abnormalities in hemangiopericytoma.

We report the cytogenetic findings in nine hemangiopericytomas studied after short-term culture. Clonal chromosome abnormalities were present in four cases. One case had a simple translocation (12;19)(q13;q13.3) as the sole abnormality whereas complex and multiple chromosomal abnormalities involving almost all chromosomes in the complement characterized tumors from the three other cases.

Chromosome Aberrations↗

Cytogenetic findings in aneurysmal bone cysts.

Cytogenetic analysis was performed on samples from ten patients diagnosed with aneurysmal bone cyst. Six of the patients were male and four were female, with ages ranging from 7 to 24 years. Results were obtained in eight of the cases; all were karyotypically normal.

Adolescent↗

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.

Bone Neoplasms↗

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.

Chromosome Aberrations↗

Primary skeletal Ewing's sarcoma in Down syndrome.

Primary skeletal Ewing's sarcoma that occurred in two teenage patients with Down syndrome are reported. Cytogenetic analysis of one of these tumors showed the 11;22 translocation characteristic of Ewing's sarcoma as well as other complex karyotypic changes. The possible role of constitutional trisomy 21 in development of these sarcomas is discussed.

Adolescent↗

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.

Adolescent↗

Chromosomal abnormalities in clear cell sarcoma. Implications for histogenesis.

Cytogenetic analysis was performed on three specimens of clear cell sarcoma, a rare neoplasm of uncertain histogenesis. Chromosomal analysis of clear cell sarcoma has not been reported previously. Two of the specimens analyzed consisted of the primary foot lesion and subsequent lymph node metastasis in a 29-year-old male. The other specimen was a primary foot lesion in a 61-year-old male. Clonal abnormalities were detected in all three of the specimens. The significance of these results with regard to the origin of this uncommon neoplasm is discussed.

Adult↗

Penetration of neuronal perikarya by capillaries in chronic limbic encephalitis.

In a case of chronic limbic encephalitis in a 57-year-old man many neurons in the pyramidal cell layer of the hippocampus bilaterally were penetrated by ingrowing capillaries. All gradations from slight to moderate indentation of the cell membranes to complete incorporation of the capillaries in the neuronal perikarya were observed. The penetrating capillaries retained their basement membranes. Because of the chronic inflammation there was extensive fibrous gliosis in Ammon's horn. This apparently had an immobilizing effect on these neurons; it is postulated that proliferating capillaries of the active inflammatory process were unable to displace local neurons and instead grew against and through their perikarya.

Capillaries↗

Cytogenetic findings in a primary malignant fibrous histiocytoma of bone and the lung metastasis.

Cytogenetic studies were performed on a malignant fibrous histiocytoma of bone and its metastasis to lung. Numerical chromosome abnormalities were described for all chromosomes except chromosomes 2, 4 and 16. Structural abnormalities in the primary tumor involved chromosomes 1, 3, 5, 10, 11, 13, 15, 16 and 17. The chromosomal rearrangements seen both in the primary tumor and its metastasis involved chromosomes 13, 15 and 17. Two X chromosomes contained large homogeneously staining regions (HSRs) in the primary tumor which were replaced by multiple double minutes (DMs) in the metastatic tumor.

Bone Neoplasms↗