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Biomedical subjects

E J Perlman

Publications and source records attributed to E J Perlman.

82 records · Page 5Linked to original sources
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Devastating sequelae of alloimmune thrombocytopenia: an entity that deserves more attention.

UNLABELLED: In alloimmune thrombocytopenia, maternal sensitization to a fetal platelet alloantigen results in fetal thrombocytopenia. Even in primipara, 20% of offspring can suffer intracranial hemorrhage, half of which occur in utero. Ninety percent of subsequent pregnancies will be equally or more severely affected. We describe two patients whose previous pregnancies were complicated by neonatal alloimmune thrombocytopenia (NAIT). As expected, NAIT recurred, with devastating sequelae in both cases. One case presented with hydrops fetalis, a previously unreported association; the other fetus developed extensive intracranial hemorrhages in utero. Because both previous obstetrical histories had gone unrecognized, no preventative strategies had been undertaken. CONCLUSION: Better recognition of this disease through a positive obstetrical history is needed in order to properly counsel patients and institute appropriate prenatal treatment regimens.

Adult↗
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Patterns of congenital lower urinary tract obstructive uropathy: relation to abnormal prostate and bladder development and the prune belly syndrome.

The pathogenesis of lower urinary tract obstruction is disputed, particularly its relation to both abnormal prostatic development and the prune belly syndrome (PBS). In an attempt to clarify this issue we examined 11 males (17-38 weeks gestation) with PBS who were autopsied at our institution. The lower urinary tract was embedded intact and prepared as serial histologic sections. Of the 11 cases, 8 demonstrated mechanical obstruction of the lower urinary tract. In five of these eight cases, a "flap-valve" structure was formed by an abnormal angulation between the prostatic and penile portions of the urethra. These had dilated, thin-walled bladders and prostates and moderate to severe renal dysplasia. One of the eight cases had a valve-like obstruction at the level of the mid-prostatic urethra associated with a complex cloacal malformation and a thin-walled bladder, another case had an epithelial plug at the penile meatus, and the last of the eight cases had a posterior urethral valve. The three remaining cases showed no mechanical obstruction. However, each had megacystis with marked thickening, interstitial fibrosis, and disarray of smooth muscle bundles in the bladder wall. In 10 cases, the prostate had no or only sparse, flattened glands. These results suggest that the abnormal development of the prostate in PBS may be explained as a pressure-induced dysplasia rather than a primary maldevelopment. The findings further suggest that abnormal prostatic development and the prune belly syndrome may arise from either anatomic obstruction of various types or functional obstruction from megacystis.

Gestational Age↗
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The frozen section yesterday and today: pediatric solid tumors--crucial issues.

This article is the offshoot of a Pediatric Oncology Group (POG) seminar presented at the Adams Mark Hotel, Denver, Colorado, Friday, May 21, 1999, titled "The Frozen Section in Pediatric Solid Tumors--Crucial Issues." There were eight presenters who spoke on a wide range of topics that included historical perspectives of the frozen section and discussion of the following systems: brain, renal, germ cell, bone, soft tissue, and lymph nodes. To complement these presentations, a pediatric surgeon explained his concern and philosophy regarding the use of frozen sections, and a lawyer tackled the issues and risks in rendering a frozen section diagnosis. We think that this review covers all the important aspects of the frozen section in our current practice of pediatric pathology.

Child, Preschool↗
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Occult pulmonary synovial sarcoma confirmed by molecular techniques.

We report a unique case of a minute, occult synovial sarcoma of the lung detected intraoperatively during a pneumothorax repair in a 17-year-old boy. No alternative primary site could be detected upon complete body imaging studies and physical examinations. The diagnosis was confirmed by demonstration of the characteristic SYT/SSX gene fusion by reverse transcriptase polymerase chain reaction (RT-PCR) performed upon RNA extracted from the paraffin block of the biopsy. This case demonstrates the utility of this technique in diagnostic pathology.

Adolescent↗
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Pediatric germ cell tumors: protocol update for pathologists.

The therapy for pediatric germ cell tumors has historically been widely variable and institution dependent. The efforts to provide consistent, biology-driven therapy through Intergroup protocols has been a relatively recent phenomenon that has provided the framework for future protocol designs. The first Intergroup protocols confirmed that stage I malignant testicular germ cell tumors and immature teratomas at all sites in children could be treated with surgery alone followed by close observation. Future protocols currently in the planning stages may extend this low-risk category to stage I ovarian germ cell tumors of all histologic types. Low-stage extragonadal germ cell tumors may be placed in a new intermediate risk category. Particular pathologic issues that were raised and reported during the first protocols and that may impact on future protocol design include the presence and size of foci of endodermal sinus tumors within low-stage immature teratomas at all sites. Accurate staging will grow more critical in future protocols. The ability to recruit international cooperative groups will determine the success of chemotherapy tailored to specific subgroups that now must be lumped for statistical purposes. Lastly, companion biologic studies will be critical to defining the different subtypes of germ cell tumors and to determining predictors of biologic behavior.

Adolescent↗
PubMedDate not supplied

Genetic analysis of childhood germ cell tumors with comparative genomic hybridization.

BACKGROUND: Germ Cell Tumors (GCTs) in children and adolescents constitute a clinically and histologically heterogeneous group of tumors. Compared to GCTs in adults, the numbers of GCTs in children analyzed with cytogenetic and molecular genetic techniques is limited. However, the data available to date reveal a pattern of cytogenetic aberrations different from that in adults. Comparative genomic hybridization (CGH) is a valuable technique for the genetic profiling of tumors that allows screening for chromosomal imbalances consistent with amplification of oncogenes and loss of putative tumor suppressor genes. As CGH does not require tissue culture, it also allows analysing archival tissue samples. PATIENTS: This study focuses exclusively on GCTs in children younger than ten years of age and summarizes the genetic data of 51 tumors. Eighteen teratomas and 33 malignant GCTs were included. Primary sites were the testis (n=10), coccyx (n=13), mediastinum (n=20), ovary (n=5), CNS (n=2), and the face (n=1). METHODS: The experimental procedure includes differential enzymatic fluorescence labeling of tumor and control DNA followed by comparative hybridization to normal male chromosomes, karyotyping and computerized analysis of the fluorescence profiles. RESULTS: With the exception of one testicular and two ovarian tumors, malignant GCTs in children do not show chromosomal gain of 12p, which is characteristic of GCTs in adult patients. Irrespective of the primary site, childhood GCTs show chromosomal imbalances of chromosome 1 (loss of distal 1p, gain of 1q), deletion of 4q and 6q as well as gain of 20q at a high frequency. CONCLUSIONS: These studies will help guiding further investigations elucidating the role of putative tumor suppressor genes at e.g. 1p36 and 6q. In addition, further studies incorporated in prospective therapeutic protocols are necessary to evaluate the prognostic relevance of specific genetic aberrations.

Adolescent↗
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Genetic analysis of childhood endodermal sinus tumors by comparative genomic hybridization.

Childhood endodermal sinus tumors (CEST) are a distinct category of germ cell tumors that involve the testis and extragonadal sites of young children. Recurrent deletions of 1p and 6q have been reported by classic cytogenetic analysis of a small number of cases. Comparative genomic hybridization, a technique that screens the entire genome for genetic abnormalities, is applied to additionally define the genetic changes present in CESTs. Sixteen frozen CESTs (10 testicular, 6 extragonadal) obtained from Pediatric Oncology Group-affiliated institutions or from the Cooperative Human Tissue Network were analyzed. The most common changes were gain of 20q (10 tumors), 1q (6 tumors), 11q and 22 (4 tumors each), and loss of 6q (8 tumors with common deleted region of 6q24-qter), 16q (4 tumors), and 1p (4 tumors). Localized regions of gain were identified at 8q24 (2 tumors both showing c-myc amplification by fluorescence in situ hybridization). Gain of 12p, characteristic of adolescent germ cell tumor, was present in one testicular tumor. Comparative genomic hybridization was useful in defining genetic differences between adult and childhood tumors, in determining the common regions deleted on chromosome 6, and in identifying other involved loci to be correlated with clinical parameters in future studies.

Child, Preschool↗
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Cytogenetic analysis of childhood endodermal sinus tumors: a Pediatric Oncology Group study.

Most adult germ cell tumors have a consistent cytogenetic abnormality, i(12p), and are aneuploid. Many pediatric germ cell tumors are biologically distinct from their adult counterparts, particularly endodermal sinus tumors (ESTs) of young children. We report cytogenetic and ploidy analysis of nine ESTs involving children under 3 years of age (four extragonadal and five testicular). Structural abnormalities were present in seven tumors and were identifiable in six: 5/6 had a structural abnormality of chromosome 1, usually terminal deletion of 1p; 5/6 showed 6q deletion; 3/6 had structural abnormalities of 3p; 2/6 showed abnormalities of chromosome 2. None showed an i(12p) or abnormality of chromosome 12. Ploidy analysis of the tumors correlated with the cytogenetic analysis; in particular, the tumor that was cytogenetically normal showed no aneuploid peaks. To determine if a marker chromosome was derived from chromosome 12 or if karyotypically normal cases included nondividing tumor cells, interphase fluorescence in situ hybridization using an alpha satellite probe for chromosome 12 was performed. These studies showed no evidence of an i(12p). We conclude that ESTs in young children show cytogenetic differences from their adult counterparts and that loci on 1p, 6q, and 3q need to be further studied.

Child, Preschool↗
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Apurinic/apyrimidinic endonuclease expression in pediatric yolk sac tumors.

BACKGROUND: The enzyme apurinic/apyriminidic endonuclease/redox factor 1 (Ape1/ref1), a key protein in the base excision repair pathway, displays repair and redox activity. We examined the role of Ape1/ref1 and a protein it regulates, hypoxia inducible factor 1 alpha (HIF-1 alpha) in pediatric yolk sac tumors. PATIENTS AND METHODS: Using an immunohistochemical evaluation, 16 pediatric yolk sac tumors were evaluated for Ape1/ref1 and HIF-1 alpha expression. Samples were obtained from archival tissue. RESULTS: We demonstrated high levels of expression of Ape1/ref1 in 14/16 of the tumors. This expression was limited to the nucleus of the viable portion of each tumor. High levels of HIF-1 alpha expression was noted in half of the same tumors and localized to both the nucleus and cytoplasm of the viable tumor. CONCLUSIONS: The high levels of expression of Ape1/ref1 in this group of chemosensitive tumors may be related to the subcellular location or redox regulatory activity of one of the other factors controlled by Ape1/ref1.

Carbon-Oxygen Lyases↗