Cytogenetic abnormalities and clonal evolution in an adult hepatoblastoma.

Hepatoblastomas usually occur in children < 3 years of age, and only occasional adult cases have been described. To date, 20 cytogenetically abnormal childhood hepatoblastomas have been reported. Karyotypic investigations have shown that most hepatoblastomas are diploid or hyperdiploid, often displaying trisomies for chromosomes 2 and 20. We have cytogenetically investigated an adult hepatoblastoma for which no previous karyotypic data exist. A hypertriploid stemline with multiple numerical and structural chromosomal aberrations, including +2 and +20, was found. In addition, the tumor displayed extensive clonal evolution with 11 subclones. Although the tumor thus displayed some chromosomal abnormalities commonly observed in childhood tumors, providing further support for the importance of these abnormalities in the development of hepatoblastoma, the level of genomic complexity seen in the present case has never been described in childhood hepatoblastomas and may suggest a different etiology or pathogenesis.

Cellular localisation in placenta of placental type plasminogen activator inhibitor.

A specific plasminogen activator inhibitor is known to occur in placenta and in pregnancy plasma. Immunohistochemical methods with polyclonal and monoclonal antibodies against the inhibitor were used for its localisation in term placentas. Immunoreactive material was found in the trophoblastic epithelium. It was absent in the stroma of the chorion villi.

Cytogenetic findings in pediatric germ-cell tumors.

Three pediatric germ cell tumors (GCT) were cytogenetically analyzed. A mediastinal mature teratoma in a 15-year-old girl had a balanced t(8;22)(p21;q12) as the sole clonal aberration, an intrathoracic immature teratoma in a 2-year-old girl had the complex karyotype 46,XX,der(6) ins(6;2)(q15;q11q23),de1(8)(q22),-1O,der(12)t(10;12),(q22;q22- 23),der(16)t(1;16)(q12;q11),+mar and a congenital presacral endodermal sinus tumor was characterized by the karyotype 47,XY,add(11)(p15),der(13)t(1;13)(q21;p13),add(14)(p13),d e1(15)(q24),+der(?)t(?;11)(?;q13). The present three tumors had no chromosome aberration in common, nor has any specific change been detected in the 13 previously reported cytogenetically aberrant pediatric GCT. The karyotypic picture comes across as far more heterogeneous than that of GCT of adults. Whereas gain of 12p material, in the vast majority through i(12)(p10) formation, dominates in the adult setting, the most common cytogenetic abnormalities in pediatric GCT seem to be unbalanced recombinations leading to gain of 1q. Other recurrent changes include, in decreasing order of frequency, numerical and structural aberrations leading to gain of 8q and 12p, loss of distal 1p, +3, loss of 7q22-32, -10, -13 and -18.

Rearrangement of chromosomal bands-3p13-14 in 2 hamartomas of the breast.

Cytogenetic aberrations have until now not been reported in mammary hamartomas. The finding of multiple, karyotypically abnormal clones in short-term cultures from 2 such tumors supports the interpretation that these are genuinely neoplastic lesions. The deletion del (3) (p13p14) and trisomy 18, both known to occur as primary chromosome abnormalities in breast carcinoma, were among the clonal changes in one case each. Since both tumors had structural abnormalities of 3p13-14, admittedly leading to different derivative chromosomes, rearrangement of this region might represent a unifying feature in the genesis of mammary hamartomas.

Does the Z gene variant of alpha-1-antitrypsin predispose to hepatic carcinoma?

In 10 of 56 patients with primary liver carcinoma the nontumorous hepatocytes contained diastase resistant, periodic acid-Schiff positive and alpha-1-antitrypsin positive (immunoperoxidase technique) globules. This is a frequency of 18 per cent among patients with liver carcinoma against 6 per cent in an unselected autopsy series. The tumors were of the hepatocellular or mixed type in nine of the 10 patients, and the frequency among such patients was 23 per cent. We consider that these globules indicate a carrier of the protease inhibitor allele of the Z gene variant (single or double).

Parietal cell carcinoma of the stomach.

Two cases of parietal cell carcinoma are reported and compared with seven cases previously described. Eight of nine patients have been male. The tumours grow mainly outside the mucosa and can macro- and microscopically be misinterpreted as leiomyoblastomas or lymphomas. The survival, also with metastases, is long. The proper diagnosis requires ultrastructural investigation.

A case control study of chorioamniotic infection and histological chorioamnionitis in stillbirth.

In order to elucidate the role and aetiology of chorioamnionitis in stillbirth a case referent study was carried out in 58 pregnant women with late foetal death (cases) and in 58 pregnant women at term with live foetus (referents) matched for age and parity in Maputo Mozambique. Samples from women, stillborns and liveborns, were collected for microbiological and histological assessment. Histological chorioamnionitis was diagnosed in 96% of the cases and in 67% of the referents (OR = 13.5; 95% CI: 2.9-123.9). Escherichia coli was the species most frequently isolated in stillborns; in 14/16 (88%) cases it was isolated from intracardiac fluid. E. coli was associated with chorioamnionitis in 28% of the stillborns as compared to 5% of the referents (OR = 6.9; 95% CI: 1.4-65.4). No group B streptococci were recovered from any placenta or newborn. Vasculitis was present in 12 (21%) cases and in 3 (5%) referents (OR = 4.8; 95%, CI: 1.2-27.7). Histological chorioamnionitis was thus associated with stillbirth. E. coli was common in stillborns. The presence of vasculitis in one fifth of the stillborns indicated that the foetus was alive at the onset of infection.

Interobserver variation in diagnosing coeliac disease. A joint study by Danish and Swedish pathologists.

There is an almost 40-fold difference in incidence rates of symptomatic coeliac disease between Denmark and Sweden. In an attempt to explain this difference, the present study focused on the interobserver agreement when pathologists were assessing small intestinal biopsy specimens from children suspected of suffering from coeliac disease. The study was performed on 90 biopsy specimens from 73 children. Most of the biopsies came from children who turned out not to suffer from coeliac disease after a clinical evaluation including small intestinal biopsy. Using the kappa methodology, the interobserver agreement between two Danish pathologists and one Swedish pathologist, all of whom were experienced, was "moderate" to "substantial" or 0.57-0.75. Kappa indices when the pathologists evaluated selected histological elements were in the interval from 0.24 to 0.67. A comparison of a previous routine diagnostic assessment of the 90 biopsies (14 pathologists) with the results of the experienced pathologists in the present study gave kappa indices of from 0.53 to 0.57. The study could prove no major differences in the histopathological assessment of small intestinal biopsy specimens made by Danish and Swedish pathologists. The difference in clinical presentation of coeliac disease in Denmark and Sweden does not relate to differences in the histopathological assessment of small intestinal biopsies.

Microvasculature architecture of small liver metastases in man. A correlation between microfil vascular preparations and histologic sections.

The hepatic artery and the portal vein of 12 human cadaver livers with metastases of various sizes and origins were injected with Microfil. The microvascular appearances of the metastases were studied in order to receive an explanation to findings at angiography and contrast enhanced computed tomography. Histologic examinations were also performed of Microfil-injected specimens.

Intra- and extracellular alpha 1-antitrypsin in liver disease with special reference to Pi phenotype.

In order to study the relation between intra- and extrahepatocellular alpha 1-antitrypsin (alpha 1-AT) concentrations in patients with various Pi phenotypes, a prospective series of needle liver biopsies was stained with both periodic acid-Schiff (PAS) and a specific immunoperoxidase technique to demonstrate intracellular alpha 1-AT. Concomitant blood samples from all patients were analysed for alpha 1-AT. Pi phenotypes were determined by isoelectric focusing. Non-globular intrahepatocellular alpha 1-AT can be seen in biopsies from Pi M patients with increased plasma alpha 1-AT concentrations and active liver disease. No evidence was found in this study of 250 patients (including 22 controls) for predisposition toward liver disease in any phenotypic group. PAS or immunoperoxidase staining (or both) for alpha 1-AT demonstrated characteristic globular inclusions in 11 of 15 cases having the Z allele, one case being diffusely positive and three negative. Biopsies from 3 of 207 patients with liver disease and lacking the Z allele had globular inclusions seen with both PAS and immunoperoxidase techniques. alpha 1-AT globules in absence of the Z allele are most often found in elderly patients with severe disease and high plasma alpha 1-AT concentrations.