Lucio Pollice

Malignant deciduoid mesothelioma of the pleura: report of two cases with long survival.

Malignant deciduoid mesothelioma of the pleura: report of two cases with long survival

Comparative genomic hybridization analysis of hepatoblastoma reveals high frequency of X-chromosome gains and similarities between epithelial and stromal components

Hepatoblastoma (HB) is the most common liver tumor in childhood and differs in its environmental risk factors and genetic background from hepatocellular carcinoma. HB is associated with inherited conditions such as familial adenomatous polyposis and Beckwith-Wiedemann syndrome, suggesting the importance of genetic abnormalities in the pathogenesis and progression of this disease. It has a very polymorphous morphology. A diverse range of cytogenetic alterations has been reported to date, the most frequent being trisomy 2 and trisomy 20. Thirty-five HB specimens from 31 patients (22 purely epithelial, 4 purely mesenchymal, 9 mixed) were examined by comparative genomic hybridization (CGH), a technique that enables us to screen the entire tumor genome for genetic losses and gains. Our aims were as follows: (1) to characterize chromosome abnormalities that appear in this tumor and (2) to identify possible differences between different histologic subtypes of HB. We found significant gains of genetic material, with very little difference in the number and type of alterations between the different histologic components of HB. The most frequent alterations were gains of Xp (15 cases, 43%) and Xq (21 cases, 60%). This finding was also confirmed by fluorescent in situ hybridization performed on nuclei extracted from 6 specimens. Other common alterations were 1p-, 2q+, 2q-, 4q-, and 4q+. We found no difference between different histologic subtypes, a finding that may be in agreement with the hypothesis of a common clonal origin for the different components. An hitherto-unreported high frequency of X chromosome gains may support the assumption that X-linked genes are involved in the development of this neoplasm.

Immunohistochemical evaluation of pRb2/p130, VEGF, EZH2, p53, p16, p21waf-1, p27, and PCNA in Barrett's esophagus.

Control of the G1/S‐phase transition as well as angiogenic switch are two of the most studied mechanisms in cancer. The current study examined the correlation between the immunohistochemical expression of pRb2/p130, VEGF, EZH2, p53, p16, p21waf‐1, p27, and PCNA in Barretts esophagus (BE). Overall, p53 showed a much higher expression in BE patients (up to 50%) than in controls (1–10%) (P < 0.005). Also p21 showed a downregulation in BE when compared to normal esophagus (70% of cells vs. 65%), but the difference did not show any statistical significance (P = 0.45). pRb2/p130 was detected in 80% of cells in normal controls, but showed positive in only 20% of cells in BE biopsies. Additionally, Rb2/p130 expression was inversely correlated to that of VEGF, EZH2, and PCNA (P < 0.0001, P = 0.0032, P < 0.001, respectively). p27 stained more intensely and in a widespread manner (70%) cells in normal esophageal tissues but about only 30% in BE samples (P < 0.001). Lastly, in accordance with other reports, we also found p16 expressed by immunohistochemistry at high levels in normal controls and at low levels in BE (P < 0.001). In conclusion, p16, p21, p27, and p53 staining confirmed previously published data. Interestingly, pRb2/p130 expression was found significantly decreased in metaplastic epithelium compared to normal controls and showed significant inverse correlation with the expression of other markers, such as VEGF, EZH2, and PCNA. These data, taken together, indicate that these molecular events occurring in Barretts metaplasia (BM) may represent one of the many steps taking place during esophageal malignant progression such as impairment of cell‐cycle control, altered differentiation, and unbalanced angiogenesis. J. Cell. Physiol. 207: 512–519, 2006.

Insulin-like growth factor 1 (IGF-1) in multinodular goiters: a possible pathogenetic factor.

In order to support previous in vitro studies which had stressed a possible autocrine role for Insulin-like Growth Factor 1 (IGF-1) in thyroid growth regulation, we have investigated the presence of IGF-1, as detected by means of radioimmuno assay and of immunocytochemistry, in thyrocytes from normal thyroid and from multinodular goiter. Our study revealed that IGF-1 is detectable in thyroid cells from multinodular goiter and, to a lesser extent, from normal thyroid. Both techniques used in this study demonstrated that thyrocytes are the site of accumulation of IGF-1 and that stromal cells contain lower amounts of this growth factor. The findings of the present study seem to suggest that thyrocytes could produce IGF-1 in vivo. This feature gives further support to the hypothesis that IGF-1 may regulate thyroid growth and therefore it might be involved in the pathogenesis of multinodular goiter.

Inflammatory Fibroid Polyp of the Rectum

A case of inflammatory fibroid polyp of the rectum in an 8 years old boy is reported. This lesion is not infrequently found in the gastro-intestinal tract, is very rare in childhood and has never been reported in the rectum. The pathogenetical hypothesis that fibroid represents a dynamic response to recurrent small injuries with possible different histological patterns is prospected.

APUD CELLS IN NORMAL AND HYPERPLASTIC PROSTATES

SummaryArgyrophilia and argentaffinity, as basic properties of APUD cells, were investigated in 50 normal and hyperplastic prostates, which included both autopsy and surgical specimens from patients of various ages. Normal prostates (including glands from 3 foetuses) had 62% of argyrophil-positive granules in the glandular epithelia, while only 44% of the hyperplastic glands were positive. Argentaffin-positive cells were found in 12% of the surgical hyperplastic cases. Both argyrophil and argentaffin cells were distributed in zones, often in lobule-like shapes, lying along the basal membrane. On the basis of these findings, there is a discussion on the possible roles played by the so-called APUD cells in hyperplastic and neoplastic growths of the prostate, such as carcinoid tumours (apudomas) or endocrine-associated syndromes in the course of prostatic cancer.

Differential diagnosis between thyroid follicular adenoma and carcinoma. Analytic morphometric approach.

In this study some nuclear dimensional and analytical parameters were evaluated in order to distinguish follicular atypical adenoma from follicular carcinoma of the thyroid. Eighty nuclei from carcinomas, 80 from adenomas and 80 from normal thyroid were studied. Analytical parameters obtained by the nuclear shape study (by S.A.M. system) as well as dimensional parameters were submitted to univariate statistical analysis. On the ground of our results atypical adenoma could be considered as an intermediate aspect of a progressive change from benign to malignant even if they are closer to normal thyroid than to carcinoma.

NEOPLASTIC DISEASE AND DELETION 22q11.2: A MULTICENTRIC STUDY AND REPORT OF TWO CASES

Deletion 22q11.2 is a chromosomal abnormality detected in young patients with clinical manifestations of the DiGeorge/velocardiofacial syndrome. Conotruncal heart defects are also associated with del22q11.2. An association of these cardiac malformations with neoplasias has been observed. Our series includes two cases of malignancies, a hepatoblastoma and a renal-cell carcinoma, arising in children with complex cardiac malformations. The aim of the study was to determine if the deletion at 22q11.2 was present and could be responsible for both pathological processes. Del22q11.2 was identified in both cases. Comparative genomic hybridization revealed terminal gains on chromosomes 1q and Xq and terminal loss on 1p in the hepatoblastoma, and gains in 1p, 12q, 16p, 20q, 22q, and whole chromosome 19 and loss of Xq in the renal-cell carcinoma. Our results confirm a common genetic basis for cardiac malformations, and del22q11.2 presents a risk factor for the development of pediatric tumours.

Comparative genomic hybridisation in malignant deciduoid mesothelioma

Background: Malignant deciduoid mesothelioma is a rare variant of epithelioid mesothelioma. This tumour generally has poor prognosis, and can be asbestos related. Aim: To identify peculiar genetic changes responsible for critical phases in pathogenesis of malignant deciduoid mesothelioma and their prognostic relevance. Methods: Comparative genomic hybridisation was carried out in six cases of malignant pleural deciduoid mesothelioma, four sporadic and two familial. All cases were found to be asbestos related. Four patients died during follow-up and the mean survival was 29.5 (SD 14.2, range 12–43) months. Results: Genetic abnormalities were found in all the tumour tissues, the most frequent being chromosomal gains at 1p, 12q, 17, 8q, 19 and 20 and losses at 13q, 6q and 9p. Survival was found to be longer in those patients who presented a smaller number of losses (⩽2) in the tumorous chromosomes. Conclusions: Although numerous genetic changes are presented by deciduoid mesotheliomas, certain chromosomal regions are preferentially affected. The clinical outcome for this mesothelioma subtype is predicted by the number of losses.

Full pancreatic endocrine differentiation in a mediastinal teratoma

In a mediastinal teratoma containing pancreatic tissue rich in islet cells, immunofluorescence studies showed a high degree of differentiation of the endocrine tissue. Insulin-, glucagon-, somatostatin-, and pancreatic polypeptide(PP)-containing cells were all consistently represented. They showed the same precise topographic distribution that is seen in normal islets (i.e., a central core of insulin-containing cells with the other cell types in a peripheral position) and that is thought to be important for the integrated function of the islets. This may explain the absence of clinical symptoms of hypoglycemia. In addition, a nonrandom distribution of endocrine cell types, with PP-rich and PP-poor areas, similar to that found in pancreatic regions embryologically derived from the ventral and dorsal anlagen, respectively, was observed. This finding suggests that the unknown mechanisms responsible for the dissimilar endocrine cell contents in pancreatic regions of different embryologic origins were operating in the teratoma.