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ABSTRACT: We report on a 34-week-old infant with restrictive dermopathy (RD), a rare lethal genodermatosis, characterized by an abnormal skin growth and differentiation with thin, tightly adherent skin that causes a dysmorphic face, generalized flexion joint contractures, and respiratory insufficiency. Kaplan-Meier analysis of 32 previously well-described infants affected with RD showed a median survival of 132 hours. Lethal congenital contractural syndromes, including Pena-Shokeir phenotype, cerebro-oculo facio-skeletal syndrome, and lethal multiple pterygium syndrome, should be considered first in the differential diagnosis. Other lethal contractural syndromes are discussed.
American Journal of Perinatology 02/2001; 18(1):39-47. · 1.32 Impact Factor
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ABSTRACT: Hepatoblastoma is a rare malignant tumor of the liver that occurs in children at an average age of 2 to 3 years. Epidemiologic studies have shown an increased frequency of this tumor type in families affected by adenomatous polyposis coli. In addition to the epidemiologic data, molecular genetic studies suggest that inactivation of the APC tumor suppressor may be involved in hepatoblastoma tumorigenesis. A major function of APC is the downregulation of beta-catenin, a transcription-activating protein with oncogenic potential. In an ongoing immunohistochemical study of beta-catenin expression in sporadic cases of tumor types that are associated with adenomatous polyposis coli, we observed increased beta-catenin levels in the cytoplasm and in the nuclei of three investigated hepatoblastomas. Sequencing of exon 3 of the beta-catenin gene (CTNNB1) revealed an activating mutation in one of the tumor samples. Our data indicate for the first time that beta-catenin accumulation may play a role in the development of hepatoblastoma and that activating mutations of the beta-catenin gene may substitute biallelic APC inactivation in this tumor type. Genes Chromosomes Cancer 25:399-402, 1999.
Genes Chromosomes and Cancer 09/1999; 25(4):399-402. · 3.31 Impact Factor
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ABSTRACT: In order to investigate genetic alterations specific to liver metastases of colorectal carcinomas, losses of heterozygosity and replication errors have been compared in 15 cases of primary colorectal carcinoma and in the corresponding metastatic liver tumours. Fifteen microsatellite markers located on 13 different chromosomal arms were used in the study. The LOH patterns of the primary and the metastatic tumours were identical in eight cases and showed differences in seven cases. Areas of deletion predominantly or completely common to the colorectal and the metastatic tumour were detected on chromosomes 5q, 8p, 17p, 18q, and 22q. Preferential loss in metastatic tumours was observed on chromosomal arm 3p. Replication errors were found in four primary tumours and in three of the corresponding secondaries. A replication error phenotype specific to a metastasis was not observed.
The Journal of Pathology 08/1999; 188(3):258-62. · 6.32 Impact Factor
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ABSTRACT: We report about a two and a half year old girl with a primary yolk sac tumor (YST) of the heart, located in the interventricular septum. The girl was admitted to the hospital with a systolic cardiac murmur. Echocardiography revealed a smoothly surfaced tumor which based on the interventricular septum below the aortic valve and filled out more than half of the left ventricular cavity. Diagnosis of a yolk sac tumor was established on a frozen section of a biopsy taken at surgery and confirmed by the examination of the resected material. Excessively elevated serum alpha-fetoprotein (AFP) levels contributed to this diagnosis. Follow up examinations of the patient including computed tomography (CT) of head, thorax and abdomen, did not indicate an extracardiac tumor manifestation. We found no previous report of a primary intracardial yolk sac tumor in the literature.
Pathology - Research and Practice 02/1999; 195(3):193-7. · 1.21 Impact Factor
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ABSTRACT: This paper reports a case of the rare entity of an extraneural metastasizing ependymoma of the spinal cord. The tumor which arose in the conus medullaris and in the cauda equina was first diagnosed in 1956 when a thoracolumbar myeloresection was performed. At autopsy, 40 years after the primary diagnosis, a massive local tumor recurrence with extraneural metastases in the lungs, the pleura, the liver, and the thoracal and abdominal lymph nodes were found. Immunohistochemical stains of the extraneural metastases showed a strong cytoplasmatic expression of glial fibrillary acidic protein (GFAP). Neither the primary tumor nor its metastases showed any of the conventional morphological criteria of malignancy. Reviewing the literature we discuss the possible mechanism of extraneural tumor spread and the incidence of metastases with regard to the tumor type.
Pathology & Oncology Research 02/1999; 5(1):56-60. · 1.37 Impact Factor
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ABSTRACT: The authors describe the histopathology of the resting cartilage and the growth plate in a case of diastrophic dysplasia and review the differential diagnosis with pseudo-diastrophic dysplasia and atelosteogenesis type II.
Der Pathologe 10/1998; 19(5):379-83. · 0.67 Impact Factor
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ABSTRACT: An einem eigenen Fall und anhand der Literatur besprechen die Autoren die histopathologischen Ergebnisse im Bereich des sog.
ruhenden Knorpels und der Epiphysenfuge der selten auftretenden diastrophischen Dysplasie. Außerdem wird die Differentialdiagnose
zum pseudodiastrophischem Kleinwuchs und zur Atelosteogenese Typ II tabellarisch dargestellt.
The authors describe the histopathology of the resting cartilage and the growth plate in a case of diastrophic dysplasia and
review the differential diagnosis with pseudodiastrophic dysplasia and atelosteogenesis type II.
Der Pathologe 08/1998; 19(5):379-383. · 0.67 Impact Factor
