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Biomedical subjects

E Perlman

Publications and source records attributed to E Perlman.

At least 19 recordsLinked to original sources
PubMed2004

[Kidney tumors in childhood].

Types of renal tumors arising in children are different from those occurring in adults. Nephroblastoma is the most common (85%) with a clinical outcome which has dramatically improved in the last 30 years. Current classifications are aimed at better adaptation of treatment to each individual case, reducing iatrogenic complications without impairing total cure. Amongst entities which have been recently described or are better known we can find juvenile carcinoma associated with Xp11.2 translocation, renal medullary carcinoma, metanephric tumors, etc. Role of molecular cytogenetics is increasing for classification (and treatment) and this should always be kept in mind when dealing a fresh specimen of childhood renal tumor.

Adult↗
PubMed2001

Treatment with nephrectomy only for small, stage I/favorable histology Wilms' tumor: a report from the National Wilms' Tumor Study Group.

PURPOSE: Children younger than 24 months with small (< 550 g), favorable histology (FH) Wilms tumors (WTs) were shown in a pilot study to have an excellent prognosis when treated with nephrectomy only. PATIENTS AND METHODS: A study of nephrectomy only for the treatment of selected children with FH WT was undertaken. Stringent stopping rules were designed to insure closure of the study if the true 2-year relapse-free survival rate was 90% or lower. RESULTS: Seventy-five previously untreated children younger than 24 months with stage I/FH WTs for which the surgical specimen weighed less than 550 g were treated with nephrectomy only. Three patients developed metachronous, contralateral WT 1.1, 1.4, and 2.3 years after nephrectomy, and eight patients relapsed 0.3 to 1.05 years after diagnosis (median, 0.4 years; mean, 0.51 years). The sites of relapse were lung (n = 5) and operative bed (n = 3). The 2-year disease-free (relapse and metachronous contralateral WT) survival rate was 86.5%. The 2-year survival rate is 100% with a median follow-up of 2.84 years. The 2-year disease-free survival rate (excluding metachronous contralateral WT) was 89.2%, and the 2-year cumulative risk of metachronous contralateral WT was 3.1%. CONCLUSION: Children younger than 24 months treated with nephrectomy only for a stage I/FH WT that weighed less than 550 g had a risk of relapse, including the development of metachronous contralateral WT, of 13.5% 2 years after diagnosis. All patients who experienced relapse on this trial are alive at this time. This approach will be re-evaluated in a clinical trial using a less conservative stopping rule.

Disease-Free Survival↗
PubMed2001

Non-mosaic trisomy 20 presenting at 21 weeks' gestation as a thoraco-abdominal mass.

Non-mosaic trisomy 20 is rare in fetuses surviving beyond the first trimester. We report a case of a fetus with non-mosaic trisomy 20 in amniotic fluid cultures obtained during the prenatal evaluation of an unusual thoraco-abdominal mass which was found at autopsy to be pulmonary sequestration. Gross inspection and autopsy of the fetus revealed multiple anomalies.

Abdominal Neoplasms↗
PubMed2001

Metanephric stromal tumor: a rare benign pediatric renal mass.

We report a rare case and description of a benign pediatric renal mass. To our knowledge, this tumor has never been described in urologic published reports. It is possible that the identification of this renal tumor could spare a child the toxic adjuvant chemotherapy that would be administered if confused with histologically similar tumors such as clear cell sarcoma of the kidney.

Adenofibroma↗
PubMed2001

ALK1 and p80 expression and chromosomal rearrangements involving 2p23 in inflammatory myofibroblastic tumor.

BACKGROUND: Inflammatory myofibroblastic tumor (IMT) is an uncommon tumor of extrapulmonary and pulmonary tissues with an unpredictable clinical course, occasional recurrences, and rare malignant transformation. Clonal abnormalities with rearrangements of chromosome of 2p23 and the ALK gene have been reported in a few cases. The purpose of this study is to investigate whether these are consistent abnormalities among IMTs or represent a distinct subset. DESIGN: Formalin-fixed, paraffin-embedded archival tissue sections from 47 IMTs in 40 patients were immunostained with monoclonal antibodies against ALK and p80. Fluorescence in situ hybridization for ALK rearrangements was done on 22 IMTs from 19 patients. Findings were correlated with clinical features and outcome. RESULTS: ALK positivity was observed in 17 of 47 IMTs (36%) and p80 positivity in 16 of 47 IMTs (34%). Fluorescence in situ hybridization showed ALK rearrangements in nine cases (47%), aneuploidy in three cases (16%), and no rearrangement in seven cases (37%). IMTs with ALK abnormalities by immunohistochemistry and/or fluorescence in situ hybridization originated in the abdomen/pelvis/retroperitoneum, chest, and extremities. The mean age was 6.6 years, with a male/female ratio of 1.3. 64% of patients had no evidence of disease at last follow-up, 45% had one or more recurrences, and 18% displayed histologic evidence of malignant transformation. The IMTs without ALK abnormalities occurred in older children, were more frequent in females, and had fewer recurrences. However, in this group of 40 patients, the differences between the groups with and without ALK abnormalities did not have statistical significance. Aneuploidy without ALK abnormalities was associated with malignant transformation in three of five cases. CONCLUSIONS: Abnormalities of ALK and p80 and evidence of chromosomal rearrangements of 2p23 occur in a significant proportion of IMTs. These changes are most frequent in abdominal and pulmonary IMTs in the first decade of life and are associated with a higher frequency of recurrence. These findings confirm the neoplastic nature of a subset IMT with ALK abnormalities and suggest that aneuploid IMT is a subset with more aggressive clinical behavior.

Adolescent↗
PubMed2000

Astronomical constraints on the cosmic evolution of the fine structure constant and possible quantum dimensions.

We present measurements of absorption by the 21 cm hyperfine transition of neutral hydrogen toward radio sources at substantial look-back times. These data are used in combination with observations of rotational transitions of common interstellar molecules to set limits on the evolution of the fine structure constant: alpha/ alpha<3.5x10(-15) yr(-1), to a look-back time of 4.8 Gyr. In the context of string theory, the limit on the secular evolution of the scale factor of the compact dimensions, R, is &Rdot/ R<10(-15) yr(-1). Including terrestrial and other astronomical measurements places 2sigma limits on slow oscillations of R from the present to the epoch of cosmic nucleosynthesis, just seconds after the big bang, of DeltaR /R<10(-5).

Journal Article↗
PubMed2000

Myogenin is a specific marker for rhabdomyosarcoma: an immunohistochemical study in paraffin-embedded tissues.

Myogenin belongs to a group of myogenic regulatory proteins whose expression determines commitment and differentiation of primitive mesenchymal cells into skeletal muscle. The expression of myogenin has been demonstrated to be extremely specific for rhabdomyoblastic differentiation, which makes it a useful marker in the differential diagnosis of rhabdomyosarcomas (RMS) from other malignant small round cell tumors of childhood. Commercially available antibodies capable of detecting myogenin in routinely processed formalin-fixed paraffin-embedded (FFPE) tissue are now available. In this study, we evaluated myogenin expression using the monoclonal myf-4 antibody (Novocastra Labs) on FFPE in a large number of pediatric tumors in order to define the clinical utility of this marker. A total of 119 tumors were studied. These included 48 alveolar RMS (ARMS), 20 embryonal RMS (ERMS), one spindle cell RMS, 16 Ewing's sarcomas (ES), six nephroblastomas, two ectomesenchymomas, seven precursor hematopoietic neoplasms, five olfactory neuroblastomas, three neuroblastomas, six desmoplastic small round cell tumors, and five rhabdoid tumors. Distinct nuclear staining for myogenin was noted in all 69 RMS. Notably, the number of positive tumor cells differed between the ARMS and ERMS. In ARMS, the majority of tumor cells (75 to 100%) were positive, in contrast to ERMS, in which the positivity ranged from rare + to 25% in all but three tumors. Additionally, myogenin positivity was seen in two of two ectomesenchymomas and in two nephroblastomas with myogenous differentiation. All other tumors were clearly negative. Our results indicate that staining for myogenin is an extremely reliable and specific marker for rhabdomyoblastic differentiation. It gives consistent and easily interpretable results in routinely fixed tissues.

Biomarkers, Tumor↗
PubMed2000

Coexpression of hypoxia-inducible factor 1-alpha and vascular endothelial growth factor in Wilms' tumor.

BACKGROUND/PURPOSE: Hypoxia-inducible factor 1 alpha (HIF-1alpha) is an important transcriptional factor responsible for regulating expression of the angiogenic cytokine, vascular endothelial growth factor (VEGF). Little information is available regarding factors involved in the hypoxic cascade, such as HIF or VEGF in Wilms' tumor. We concomitantly evaluate the expression of HIF-1alpha and VEGF in ex vivo human Wilms' tumor specimens. METHODS: Immunohistochemical analysis (IHC) utilizing a monoclonal human anti-HIF-1alpha or a polyclonal anti-VEGF antibody was performed on ex vivo specimens of Wilms' tumor (n = 18). Predominant tumor histologic subtype was divided equally between epithelial (n = 6), blastemal (n = 6), and mixed (n = 6). Specimens were scored on a predetermined scale for distribution (percent positive cells) and intensity of HIF-1alpha/VEGF expression within areas of tumor. RESULTS: IHC analysis found that HIF-1alpha and VEGF were expressed in all Wilms' tumor specimens. Strong nuclear staining for HIF-1alpha was seen in all samples evaluated, (n = 18), mean score 2.7 (>50% cells exhibiting nuclear HIF-1alpha expression). Cytoplasmic staining for HIF-1alpha also was seen in 15 of 18 samples (83%). Distribution of VEGF was equivalent between blastemal and epthelial components, mean score 2.23 versus 2.35. CONCLUSIONS: HIF-1alpha and one of its regulatory end-products, the angiogenic cytokine VEGF, are simultaneously expressed in human Wilms' tumor. In Wilms' tumor, intratumoral hypoxia may stimulate tumor conversion to the angiogenic phenotype and incite production of VEGF. Strategies targeting the hypoxic cascade ultimately may prove efficacious against Wilms' tumor.

DNA-Binding Proteins↗
PubMed2000

Genomic aberrations in human hepatocellular carcinomas of differing etiologies.

We sought to assess whether genetic abnormalities in hepatocellular carcinoma differed in geographic locations associated with different risk factors. Comparative genomic hybridization (CGH) was applied to the genome-wide chromosomal analysis in 83 tumor samples from four different geographic origins. Samples were obtained from regions that differed in aflatoxin exposure: China (Hong Kong with low aflatoxin exposure and Shanghai with moderate aflatoxin exposure), Japan, and the United States (negligible aflatoxin exposure). Cases from Hong Kong and Shanghai were all hepatitis B virus (HBV) related, those from Japan were hepatitis C virus related, and those from the United States were HBV negative. In parallel, the mutational pattern of the whole p53 gene (exons 1-11) was also investigated in these cases. CGH revealed a complex pattern of chromosomal gains and losses, with the commonest aberration in each geographic location being chromosome 1q copy number gain (38-60%). Shanghai cases displayed the highest number of total aberrations per sample, with significant copy losses on 4q (75%), 8p (70%), and 16q (65%). Hepatitis C virus-related samples from Japan had a characteristically high incidence of 11q13 gain. p53 mutation(s) was detected in 23% of Hong Kong cases, 40% of Shanghai, 31% of Japan, but only 6% of the United States cases. The "aflatoxin-associated" codon 249 mutation was, however, identified only in samples from China (13% Hong Kong and 20% Shanghai). This finding, together with the highly aberrant pattern of genetic changes detected in the Shanghai series, is suggestive of the genotoxic effects of aflatoxin being more broadly based. It is also likely that there is a synergistic effect of HBV infection and high aflatoxin exposure in promoting hepatocellular carcinoma development. It appears from our CGH study that individual risk factors are indeed associated with distinct genetic aberrations, although changes in 1q gain appear common to all.

Adolescent↗
PubMed1999

Absence of EWS/FLI1 fusion in olfactory neuroblastomas indicates these tumors do not belong to the Ewing's sarcoma family.

The balanced reciprocal translocation t(11;22)(q24;q12) is a specific molecular marker for the Ewing's sarcoma family of tumors (ESFT). Based on the detection of this translocation in some olfactory neuroblastomas (ONBs), it has been proposed that ONBs also belong to the ESFT. Others have challenged this hypothesis; however, the rarity of ONBs, as well as the lack of molecular techniques that work reliably on formalin fixed tissue, have precluded the molecular analysis of a significant number of cases. We evaluated the immunophenotypic and molecular features of 17 paranasal small round neuroectodermal tumors using routinely fixed tissue. Probes localizing to 22q12 (EWS) and 11q24 (FLI-1) were used in a standard 2-color fluorescence in situ hybridization (FISH) assay to evaluate EWS/FLI1 fusion on the der(22). Sixteen tumors were mic-2 negative, whereas 1 tumor was mic-2 positive, compatible with ONB and ESFT, respectively. Thirteen of 15 ONBs could be evaluated by FISH, and all 13 were negative for the EWS/FLI1 fusion. Distinct fusion signals were identified in the single paranasal ESFT. Our findings indicate that ONBs lack the EWS/FLI1 fusion and are unrelated to the ESFT; however, true ESFTs may rarely occur as primary sinonasal tumors.

Adolescent↗
PubMed1999

Gonadal morphology in cloacal exstrophy: implications in gender assignment.

OBJECTIVE: To compare the histology of gonads excised from males with cloacal exstrophy (the most severe variant of the exstrophy-epispadias complex) undergoing early gonadectomy and gender reassignment (to obviate difficulties in reconstructing male external genitalia) with those published previously. PATIENTS AND METHODS: Testicular tissue was obtained from males with cloacal exstrophy undergoing gender reassignment shortly after birth. Slides were stained for histological evaluation and reviewed by one author. The histology was compared with known normal features for newborn testicular tissue. The mean age at the time of gender reassignment was 6 months. RESULTS: There were no significant abnormalities in the architecture of the rete testis, epididymis or vas of the study specimens. There were more germ cells in some patients with cloacal exstrophy, but this finding was not specific and is of unknown clinical significance. CONCLUSIONS: Despite the severity of the malformations in cloacal exstrophy, testicular histology is preserved. In highly selected genotypic males who have adequate phallic structures, congruent gender assignment is appropriate and early orchidopexy is recommended.

Bladder Exstrophy↗
PubMed1999

Neural innervation of the newborn exstrophic bladder: an immunohistochemical study.

PURPOSE: Continence in bladder exstrophy is not always easy to attain. Some patients have a small noncontractile bladder while in others an adequate capacity bladder may not contract normally. Innervation of the detrusor determines its ability to contract. The exstrophic bladder during organogenesis does not store urine. Therefore, its requirements for contraction are limited and its innervation would potentially reflect this difference in function. The availability of specific immunostains allows better differentiation of the neural elements in tissue specimens. Our study focuses on myelinated nerves innervating the newborn exstrophic detrusor. MATERIALS AND METHODS: Biopsies were obtained from the anterior wall of 10 newborn exstrophic bladders at the time of initial closure and compared to 10 newborn controls. Patient age at bladder closure ranged from 1 to 90 days (mean 22). Specimens were formalin fixed and paraffin embedded. Then 4 micro. thick sections were stained with S100, an immunostain that stains neural crest elements including Schwann's elements (myelinated nerve fibers). The entire tissue section was examined. Microscopic fields were sequentially examined with a morphometric system comprising a microscope, video camera and personal computer with a video frame grabber. The output image was displayed on a second monitor and the nerves in each field and numbers of fields in each section were counted. To be considered, fields had to have greater than 75% tissue coverage. The average number of nerves per field was compared between the exstrophic bladders and normal controls. RESULTS: The average number of myelinated nerves per field in the newborn exstrophic bladders (0.13 per field) was significantly reduced compared to normal controls (1.25 per field) and statistically significant (p<0.001). This reduction in nerve fibers appeared to be due to lack of smaller fibers with preservation of larger fibers. There was no difference in innervation in cases closed at birth compared to those closed after month 1 of life. CONCLUSIONS: The newborn exstrophic bladder has fewer myelinated nerve fibers than normal controls primarily due to reduction in the smaller fibers which may represent a maturational delay in the development of the exstrophic bladder. Another possible explanation may be degeneration of the fibers due to lack of bladder contraction but no indication of nerve degeneration was evident in our study. Followup studies of patients at various stages of reconstruction will determine the evolution of neural innervation in the exstrophic bladder.

Bladder Exstrophy↗
PubMed1995

Congenital cystic adenomatoid malformation of the lung: insights into the pathogenesis utilizing quantitative analysis of vascular marker CD34 (QBEND-10) and cell proliferation marker MIB-1.

Congenital cystic adenomatoid malformation (CCAM) encompasses a spectrum of variably cystic developmental anomalies of the lung histologically characterized by immature lung tissue. The pathogenesis is uncertain, but many investigators favor a maturation arrest in bronchopulmonary development. To investigate this hypothesis, the vascular development and proliferation capacity of lung tissue with CCAM type I from nine infants ranging in age from 20 weeks gestation to 42 days old were studied immunohistochemically utilizing CD34 for the former and MIB-1 for the latter. Both markers were quantitated on an image analysis system. CCAM was hypovascular with a mean vascular index of 20.05% +/- 6.58 compared to 40.06% +/- 4.19 for the age-matched controls (P < 0.000001). The proliferation index of both epithelial and mesenchymal components was higher in CCAM (10.46 +/- 3.48) than in control tissue (7.14 +/- 1.88; P < 0.012). In contrast to the control lung tissue which showed a remarkable synchrony between the vascular development and proliferation throughout the parenchyma, focal asynchrony between the proliferation of the epithelial and stromal components was noted in CCAM. The vascularity in CCAM corresponds to that seen in early gestation. The cellular proliferation in CCAM is higher than in full-term infants and corresponds to late second trimester or early third trimester fetuses. These findings support the proposed pathogenesis of a maturation defect in lung embryogenesis.

Antigens, CD34↗
PubMed1994

Cytogenetic abnormalities in two cases of neuroblastoma.

Neuroblastomas are common solid tumors in children. We report chromosome analysis of two neuroblastomas, each studied at diagnosis and at recurrence. The first case was a clinical stage D tumor which showed 45,X-Y, add(1)(p34),der(15)t(Y;15)(q11;p13), and double minutes on cytogenetic analysis at diagnosis. At recurrence, the same structural abnormalities were present along with a homogeneously staining region (hsr) at 8q22, 19p12, or 3p23 in each of three related clones. The hsr were shown to represent amplification of the N-myc gene by in situ hybridization. Cytogenetic analysis of the second tumor, stage D-S, showed 48-54,XX,der(1)add (1)(q41), +2, +7, +7, inv(9), +17, + mar. The lack of demonstrative involvement of 1p or visible evidence of gene amplification has also characterized the limited number of D-S specimens previously described, suggesting that stage D-S neuroblastoma indeed differs from stage D disease at the genetic level.

Abdominal Neoplasms↗
PubMed1991

Bladder wall abnormalities in myelodysplastic bladders: a computer assisted morphometric analysis.

Myelodysplasia represents the most common cause of neurogenic bladder dysfunction in children. The specific histological features associated with myelodysplastic bladders have not been previously characterized. Our objective was to study the relationship between smooth muscle and connective tissue in control and myelodysplastic bladders using classical morphometric analysis with the assistance of an automated image analysis system. Gross histological analysis of the bladder specimens of normal stillborn fetuses showed organized muscle bundles embedded in a small amount of connective tissue. The bladder specimens of myelomeningocele stillborn fetuses showed a marked paucity of muscle bundles as well as a significantly diminished size of the muscle bundles. The myelomeningocele bladder specimens obtained from patients undergoing autopsy and those undergoing augmentation cystoplasty revealed significant interfascicular and pericellular infiltration of the smooth muscle by dense connective tissue. Quantitative morphometric analysis showed that the myelomeningocele stillborn fetuses have a significant increase in the volumetric content of connective tissue compared to control stillborn fetuses. The bladders of myelomeningocele patients who underwent autopsy or augmentation cystoplasty had a 3-fold increase in connective tissue when compared to normal controls. These findings reveal that structural changes in the histological components of the myelodysplastic bladder can be demonstrated not only in patients of varying ages undergoing autopsy or augmentation cystoplasty but also in the developing fetus. These findings enhance our understanding of the relationship of connective tissue proliferation to smooth muscle in the myelodysplastic bladder. We discuss the relationship of these findings to pathological detrusor morphology and detrusor dysfunction.

Child↗
PubMed1978

Sebaceous gland carcinoma of the eyelid.

We diagnosed sebaceous gland carcinoma of the right lower eyelid in an 82-year-old man. Computed tomography showed the lesion extending from the eyelids anteriorly to the optic foramen posteriorly. With this orbital neoplasm, was an occlusion of the central retinal artery in his right eye. The right orbit was removed surgically and biopsy of the optic foramen region indicated malignant cells. Localized radiation to the right orbit was then initiated postoperatively.

Aged↗
PubMedDate not supplied

Selenium deficiency and cardiomyopathy in acquired immunodeficiency syndrome.

Selenium deficiency is common in patients with human immunodeficiency virus infection and may contribute to the development of cardiomyopathy. A 5-year-old boy with congenital human immunodeficiency virus infection developed cardiomyopathy. Evaluation for reversible causes of cardiomyopathy was notable for the diagnosis of selenium deficiency. Cardiac function improved on selenium supplementation. The role of selenium in cardiac dysfunction and the need for nutritional evaluation and supplementation of malnourished patients with acquired immunodeficiency syndrome is discussed.

Acquired Immunodeficiency Syndrome↗