PubMed HealthSearch

Biomedical subjects

J R Neff

Publications and source records attributed to J R Neff.

18 recordsLinked to original sources

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 Gardner's 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.

Adolescent

Ring chromosome in parosteal osteosarcoma. Clinical and diagnostic significance.

In this study, two specimens of a parosteal osteosarcoma, a rare primary bone neoplasm comprising only 3-6% of all osteosarcomas, were cytogenetically analyzed utilizing standard techniques. In contrast to the complex karyotypes previously reported in osteosarcoma, this particular histologic subtype was characterized by a single chromosomal aberration, a ring chromosome. Ring chromosomes have been described as characteristic for two other low-grade malignant mesenchymal neoplasms, well-differentiated liposarcoma and dermatofibrosarcoma protuberans. We propose that the observation of a ring chromosome in osteosarcoma also correlates with a low-grade malignant potential.

Adolescent

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

Titanium-induced arthropathy associated with polyethylene-metal separation after total joint replacement.

Complications of total joint replacements are not infrequent. The authors describe five patients with displacement of the polyethylene component in two knee (metal-backed patellar component) and three hip joint replacements. Clinical, radiographic, surgical, and pathologic findings were reviewed in all cases. Conventional radiographs revealed abnormal position of the metal components in all patients and opaque curvilinear periarticular deposits in four. Arthropathy caused by deposition of small titanium particles from metal friction (in the absence of interposed polyethylene) was pathologically proved to correspond to the periarticular opacity. The subtle radiolucent polyethylene component was identified in all patients; adequate visualization in some cases may necessitate imaging with additional methods such as magnification, phosphor plate, and soft-tissue radiographic techniques; conventional tomography; and arthrography. Early recognition of these abnormalities in patients with painful joint replacements may allow less extensive surgical revision and prevent development of titanium-induced arthropathy.

Aged

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

Case report 695: Cementifying fibroma of the proximal end of the tibia.

A case of a cementifying fibroma in the proximal end of the tibia in a 31-year-old woman is presented. The lesion was expanding but well-defined with amorphous central calcification. The unique, calcified, cementum-like particles in a fibrous stroma have been reported in only four previous cases in long bones. The histological and radiographic differences between a cementifying fibroma, bone cysts with cementum, and a true cementoma are discussed. The radiological differential diagnosis of fibrous dysplasia, giant cell tumor, and low grade central osteosarcoma was considered.

Adult

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

Comparison of computed tomography and other imaging modalities in the evaluation of musculoskeletal tumors.

An algorithmic approach for the evaluation of musculoskeletal tumors is proposed on the basis of a prospective comparison of different imaging techniques in 50 unselected patients. Conventional radiography was superior to other techniques in predicting the nature of primary bone tumors. Computed tomography proved the most effective method for assessing the extent of musculoskeletal tumors and therefore had a significant influence on management in 66% of patients studied. CT was more informative than angiography and also provided more anatomical detail than ultrasound. Radionuclide scanning was mainly of value in detecting unsuspected skeletal metastases in patients with apparently solitary skeletal lesions.

Adolescent

Macrophages in giant cell tumours of bone.

Five giant cell tumours of bone were studied to determine the degree of macrophage infiltration and whether the giant cells expressed the characteristics commonly associated with macrophages, i.e., IgGFc and C3 receptors, phagocytosis and non-specific esterase activity. Macrophages were assessed in trypsin-derived tumour cell suspensions by IgGEAC rosette formation and in frozen sections of tumour by EA adsorption. The percentage of macrophages in cell suspensions from four of the tumours ranged from 11 to 40 per cent. Strong EA adsorption occurred over 35 to 95 per cent. of the tumours' surface and significant non-specific esterase positivity was observed in the tumour sections. The giant cells were receptor negative and non-phagocytic, but a low percentage of them expressed esterase activity. The results strongly suggest that despite the fact that large numbers of macrophages were present in the tumours, the giant cells were derived from cells other than macrophages.

Bone Neoplasms

External skeletal fixation in severe limb trauma.

Ten patients with 12 severe limb injuries managed by external skeletal fixation over 2 years are presented. Two major indications for external skeletal fixation divided the fractures into groups: A) extensively open fractures requiring wound care and closure by other than primary methods, and B) grossly unstable fractures requiring stabilization for soft-tissue support and fracture alignment. Group A was composed of five extremity fractures with skin and muscle loss and deep tissue contamination. Wound management was the primary problem. Wound closure, prevention of an infection, and limb salvage were the treatment goals in this group. Group B was seven severely comminuted extremity fractures with significant swelling and in some cases, questionable soft-tissue survival. Five were open, but not extensively. Instability was the primary problem. Fracture control, soft-tissue support, and limb salvage were the treatment goals in this group. Mean followup period for all fractures was 9.4 months. No amputations, deep infections, or deaths resulted. Wound care and closure were facilitated in all open fractures. Loss of contused tissues with marginal vascular supply was felt to be minimized. Delayed unions were common in both groups. Two malunions and one nonunion occurred. Treatment goals in both groups were accomplished.

Adolescent

A reevaluation of B-lymphocyte levels in peripheral blood from cancer patients.

B-lymphocytes were quantitated in mononuclear cell suspensions derived from the peripheral blood of patients with various nonlymphoreticular cancers. The method used was anti-IgM and anti-IgD membrane immunofluorescence. The mean percentage of circulating B-lymphocytes in 78 cancer patients tested was 5.3 +/- 4.6 with a range of 0--18%. Those values were compared with a mean of 9.4 +/- 4.0 and a range of 3--20% for 46 apparently normal individuals. The difference was highly significant (P less than or equal to 0.001). The mean percentage of B-cells in cell suspensions from 43 patients that were tested prior to treatment was 5.8 +/- 4.8 with a range of 0--18%. Very low values were observed both in the presence and absence of therapy, and a correlation with stage of disease could not be established. The low values were associated with decreased T-cell numbers and significantly increased monocyte levels. The fact that those values were significantly lower than have been reported previously for cancer patients was discussed as was the identity of the cells that previously had been counted as B-lymphocytes.

B-Lymphocytes