Search

Fibrolipomatous hamartoma of a nerve represents an uncommon soft-tissue tumor which typically involves the median nerve distribution near the wrist. Macrodactyly may or may not be present. The application of MRI using routine T1- and T2-weighted spin echo imaging sequences reveals serpiginous structures with low signal intensity. These structures probably represent the neural elements and associated perineural fibrosis. Further experience may allow for an accurate preoperative diagnosis of this tumor. [ABSTRACT FROM AUTHOR]

Primary malignant neuroepithelial tumors of the kidney (NETKs) comprise a group of primitive, highly malignant neoplasms that histologically and clinically are not well characterized. A large cohort of 146 of these tumors, occurring in adults and children, has been collected at a single depository site, the National Wilms' Tumor Study Group (NWTSG) Pathology Center. The authors undertook a systematic retrospective review of the histologic, ultrastructural, and clinical features of these tumors, based on materials collected by the NWTSG and the consultation files of one of the authors (J.B.B.). Histologic features were generally those of primitive neural tumors with varying amounts of rosettes and neuropil; however, a large proportion of cases displayed unusual features such as spindle cells, ganglion cells, clear cell sarcoma-like foci, rhabdoid cells, epithelioid cells, and organoid foci. CD99 staining had been performed on 69 cases and showed membranous staining in 65. The NETKs were present in patients with a wide age spectrum, ranging from 1 month to 72 years (median, 18 years). EWS/FLI1 fusion analysis using reverse transcriptase-polymerase chain reaction and immunohistochemical stains for cytokeratin, chromogranin, and epithelial membrane antigen were performed successfully on a subset of 45 cases with available paraffin blocks. Only 13 of the 45 were fusion-positive, and there was no correlation between fusion status and histology, presence of rosettes, ultrastructural features, or cytokeratin positivity. CD99-negative cases were usually fusion-negative (six of seven cases), and all three chromogranin-positive cases were fusion-negative. Tumor staging, performed on 72 clearly defined and quantifiable cases by using NWTSG criteria, indicated that these are aggressive tumors, because only six were Stage 1, compared with 16 Stage 2, 31 Stage 3, and 19 Stage 4 lesions. The authors conclude that NETKs are a somewhat diverse group of generally aggressive, high-grade lesions that may present in a wide age range and are difficult to characterize without immunohistochemistry and cytogenetics/molecular biology.

Delayed occurrence of dermoid and epidermoid tumors after myelomeningocele closure has been reported in 16% of patients. Inclusion of cutaneous remnants at the time of surgical closure of the myelomeningocele has been accepted as the most common cause for the development of these intraspinal lesions. The finding of dermal elements (congenital dermoid) within the filum terminale of a newborn with myelomeningocele offers evidence of another mechanism for the delayed occurrence of these tumors in patients with myelomeningocele.

Telomeric associations observed in a recurrent untreated pleomorphic xanthoastrocytoma were apparently the primary cytogenetic events that evolved by fusion and breakage events, resulting in subclones with ring chromosomes. The telomeric fusions between chromosomes 15pter and 20qter, and between an extra copy of the long arm of chromosome 1 and chromosome 22qter, evolved in a stepwise fashion to ring chromosomes 20 and 22. The findings in this tumor demonstrate that telomeric association is one mechanism that can initiate chromosome instability by generating subclones with unstable chromosome intermediates and result in ring chromosomes and subsequent chromosome loss.

Cytogenetic analysis of a medulloblastoma revealed two abnormal cell lines of 48,XY, +8, +8, -14, +der(14)t(1;14)(q11;p11),i(17q) and 51,XY, +5, +6, +8, +8, -14 + 20, +der (14)t(1;14)(q11;p11),i(17q), + dmin. The finding of double minute chromosomes in some medulloblastomas has been associated with amplification of the c-myc or N-myc oncogenes. We were unable to detect gene amplification with these probes by Southern blot analysis.

A seven-year-old iatrogenically immunosuppressed girl developed simultaneous bilateral iris tumors associated with granulomatous iridocyclitis, splenomegaly, and an immunoblastic pleocytosis. Serologic studies suggested a current active Epstein-Barr virus infection. Tumor biopsy showed a polyclonal plasmacytoid lymphoproliferative process, establishing the diagnosis of posttransplant lymphoproliferative disorder. Low-dose local irradiation produced rapid and complete iris tumor regression with restoration of vision in both eyes. To our knowledge, this is the first report of ocular involvement in posttransplant lymphoproliferative disorder.

We report a pleomorphic xanthoastrocytoma with an abnormal clonal cell line of 48,XY, +3, +5, -20, -22, +der(7)t(7;?)(p22;?), +der(20)t(15;20)(q11;q13).

Chromosome studies originally performed on a patient with an untreated pontine astrocytoma showed a trisomy for 1q as the sole chromosome aberration. After the patient received radiation and chemotherapy, subsequent study indicated the presence of the original trisomy for 1q, as well as trisomy for chromosomes 2, 3q, and 17, in a tumor that now, histologically, is glioblastoma multiforme. In addition to the numerical aberrations, chromosome rearrangements were observed, involving translocation breakpoints that have been reported as "hot spots" associated with the clastogenetic effect of ionizing radiation.

Reports of single chromosome abnormalities in pediatric brain tumors are rare. We report a 6-year-old patient with a malignant astrocytoma who had trisomy for the long arm of chromosome 1 as the sole chromosome abnormality.

We treated a bilateral, well-differentiated neuroblastoma of the choroid in a patient who had congenital abdominal neuroblastoma. Although orbital metastasis of neuroblastoma is common, intraocular metastasis is not. In our patient, there was no amplification of the N-myc oncogene in the tumor of either eye. This is consistent with early-stage primary neuroblastoma. Histologically, the tumors were identical in each eye and well differentiated with Homer Wright rosettes; most neuroblastoma metastases have few rosettes and are composed of more undifferentiated, anaplastic cells. We believe that our patient had bilateral primary tumors and not metastatic tumors.

A series of 12 closely related glycoproteins containing alpha-linked N-acetyl-D-galactosamine (GalNAc) as the sole carbohydrate moiety have been prepared by degradation of the antifreeze glycoproteins from the serum of the Antarctic fish Trematomus borchgrevinki. The polypeptide moieties of these glycoproteins contain substitutions in the normal -Ala-Ala-Thr- repeating tripeptide sequence which introduce alterations in the amount of alpha-helical structure and the density of acceptor sites, and theoretically also in the amount of rigidity, polarity, and hydrophobicity of the polypeptide. Of these alterations only density of acceptor sites has a statistically significant effect on the ability of the GalNAc alpha leads to Thr moiety to act as a substrate for galactosyltransferase (EC 2.4.1.22) activity solubilized from rat liver microsomes. This result suggests that in the biosynthesis of rat liver glycoproteins these structural features of the polypeptide moiety of glycoproteins are not part of the substrate specificity of the galactosyltransferase activity that transfers the second monosaccharide. Hence, these structural features do not play a major role in determining the structure of the threonine-linked oligosaccharide after its synthesis has been initiated.