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Solitary extramedullary plasmacytoma (SEP) is a rare malignant neoplasm arising from plasma cells most commonly occurring in the nasal cavity, nasopharynx and larynx. Thyroid involvement is rare and less than 75 cases of SEP of the thyroid gland have been reported to date. A 74-year-old woman with an history of multinodular goiter presented with dysphonia and painful neck swelling, related to a rapidly growing nodule in the right thyroid lobe. Thyroid function tests showed subclinical hypothyroidism; no evidence of Hashimoto's disease was found. Ultrasound confirmed the presence of an isoechoic nodule, 35 mm in diameter, with a CDIII vascular pattern. FNAC showed a monotonous population of atypical cells, interpreted as suspicious for malignant neoplasia (Thyr. 4). The patient underwent total thyroidectomy. Histopathological examination showed a unencapsulated neoplasm composed of atypical tumour cells characterized by abundant cytoplasm and eccentric nuclei. At immunohistochemistry, tumour cells revealed diffuse reactivity for CD138 and CD45RB and predominant staining for kappa chains. Pan-cytokeratins, TTF1, thyreoglobulin, calcitonin, CD20 and CD79a were negative. Clinically, a complete multiple myeloma workup was negative. On this basis, a definitive diagnosis of SEP was made. At 16 months follow-up, the patient showed good clinical conditions without evidence of multiple myeloma. In conclusion, SEP should be considered in the differential diagnosis of a rapidly enlarging thyroid nodule. Clinical correlation and immunocytochemistry are crucial in avoiding pitfalls. Surgery remains the best modality of treatment whenever the lesion is localized and easily removable.

The aim of this study is to report on a case of tumoral calcinosis (TC) mimicking hydatid cyst, which was diagnosed in a 51-year-old Caucasian woman of Sardinian origin. This lady presented with two symmetrical enlarging masses of soft tissue in the hips. The CT findings were suggestive of hydatid cysts. Grossly the two lesions appeared as unencapsulated firm, rubbery masses extending into the surrounding muscles. On cut surface the two specimens were multiloculated and contained either calcareous material or milky fluid. At histology the main findings were represented by multiple foci of amorphous calcified material bordered by proliferating macrophages, fibroblasts and multinucleated giant cells, separated by fibrous septa. The following characteristics are worth of note: the presentation in adulthood (late onset); the Caucasian race of the patient; the radiological appearances indicative of hydatid cyst; the aggressive clinicopathologic course, with multifocal involvement, rapid growth, infiltrative pattern. Histologically the TC exhibited the typical pattern of stage II according to Slavin's classification of disease.

Background: Wilson's disease (W.D.) is a metabolic disorder that occurs predominantly in children, adolescents, young adults and, rarely, in patients over 35 years., Aims: In order to verify the prevalence of the clinical presentation of W.D. in adulthood, we analyzed a wide number of clinical presentation of W.D. with particular attention to the age of onset and to the evolutive stage of liver disease at presentation., Patients: Our study is relative to 11 Sardinian adult subjects, aged 36-57 years, 6 males and 5 females, selected from a series of 120 patients affected by W.D. The only criterion utilized to select the patients was their age at presentation, with a cut off of 35 years., Methods: Liver biopsies were routinely processed and stained with rhodanine, rubeanic acid, orcein and Timm's methods. On the basis of the histological picture, liver biopsies were subdivided into four evolutive stages: stage I = steatosis; stage II = interface hepatitis; stage III = bridging fibrosis; stage IV = cirrhosis. Molecular characterization of W.D. for gene mutations in the Sardinian population was performed in 7 out of 11 cases (-441/-427 del, 5' UTR and 3436 G > A Exon 16)., Results: 3 patients showed histological features of the first evolutive stage, 2 of the second, 1 of the third, and 5 of the fourth stage. Histochemistry for copper resulted positive in 9 of 11 cases at least with one of the four employed methods. In the seven patients in whom molecular characterization was perfomed, the gene mutation of W.D. was the same observed more frequently in the Sardinian population (-441/-427 del, 5'UTR)., Conclusions: Our data show that: 1) W.D. with late onset is not rare in Sardinian population; 2) in spite of the late clinical presentation, W.D. may present in the first (3/10) and in the second evolutive stage (2/10) with mild to moderate changes of the liver architecture; 3) patients may show, at presentation, a severe liver disease, characterized by bridging fibrosis or cirrhosis; 4) from a practical point of view, we ask to consider the diagnosis the W.D. in all patients with chronic liver disease of unknown etiology, even if aged over 35 years.

A novel type of cytokeratin, cytokeratin 20 (CK20), was added in 1990 to the classic catalog of human cytokeratins, a heterogeneous group of proteins present in almost all epithelia. In man, the expression of CK20 is almost entirely confined to the gastro-intestinal epithelium, to the urothelium and to Merkel cells. Since only few data are available regarding the expression of CK20 in the developing human intestinal mucosa, we studied CK20 immunoreactivity in fetal and neonatal human gut. Immunoreactivity for CK20 was tested in fetuses and newborns, from the twelfth up to the fortieth week of gestation. In each subject, a specimen from the oesophagus, stomach, small intestine, colon, appendix was studied. Tissue samples were routinely processed and paraffin sections were stained with the CK20-specific antibody IT-Ks 20.8. CK20 immunoreactivity was absent in the oesophageal epithelium and it was unevenly distributed in the gastrointestinal mucosa. Three main patterns of immunoreactivity were observed during normal development: the first, found in the stomach and in the small bowel, is characterized by a progressive increase in CK20 expression during gestation; the second pattern, found in the duodenum, shows a progressive decrease in CK20 expression during gestation; in colon and appendix (third pattern), we did not find significant changes in the degree of immunoreactivity for CK20 during gestation. CK20 is unevenly expressed in developing human intestinal mucosa. The degree of positivity for CK20 appears to be related to the epithelial maturation stage only in gastric and small bowel mucosa. Further studies are needed to verify if the uneven CK20 immunoreactivity in the gastrointestinal tract persists even in adulthood.

Thalassemia Intermedia (TI) is a clinical definition in use for a spectrum of clinical conditions ranging in severity from the asymptomatic carrier status to the transfusion-dependent status. The histological lesions of the liver in patients affected by TI has not seen well characterized yet. The aim of this study was to define the histological picture of liver disease in TI. To this end we studied our pool of 22 Thalassemia Intermedia patients who underwent liver biopsy; none of them had blood transfusion. We took into consideration fibrosis according to Ishak's staging and iron overload according to Sciot's grading. Moreover, we determined the hepatic iron content by atomic absorption spectroscopy. Our results have shown that, in all patients studied, the histological picture was characterized by the increase in liver iron stores. By Perls's stain haemosiderin appeared to be stored mainly in hepatocytes in the majority of cases. Inspite of the large amounts of liver iron in these patients, fibrosis was absent or mild. We also noted the presence of iron-free-foci, in part of the patients. Our data show that the histological and histochemical picture of liver disease in Thalassemia Intermedia is very similar to that found in Thalassemia Major. The finding of iron-free-foci could induce to consider a follow up of these patients, even if asymptomatic.

Elastofibroma is a rare benign tumor of soft tissues that has the elective localization in peri- or interscapular region. It is characterized by the proliferation of fibroblast-like cells which appear enveloped by abundant elastic and collagen fibers. Here we present a case of elastofibroma, observed in a 63 year old woman in the interscapular region. The neoformation has been studied by transmission electron microscopy (TEM) and scanning electron microscopy (SEM). Our hypothesis is the possibility that elastofibroma is the consequence of active neoformation of fibers elastic normal in the quality that subsequently is meet to progressive degenerative phenomenons.

Introduction: Rhabdoid tumour of the kidney is a new independent entity. Before it was considered a variant of Wilms tumor of the kidney. Now we have enough parametres to define the rhabdoid tumor: immunohistochemistry positive by the vimentin, special histological features and behaviour., Case: We report a very aggressive case of rhabdoid tumor found in a two week old infant., Results: We studied aspects of histology and histochemistry. We found a positivity for vimentin and many cells in apoptosis., Discussion: The mild positivity for vimentin and the high number of cells in apoptosis suggest a relationship between apoptosis and behaviour.

Conflicting results have been reported on the usefulness of histochemistry for copper in the diagnosis of Wilson's Disease (W.D.). In spite of the high number of methods proposed in the literature, no-one has shown to have the characteristics typical of a good histochemical method: high sensitivity associated with high specificity. On this basis, it seemed of interest to evaluate, in a large series of patients with W.D., the diagnostic value of the most commonly used histochemical methods for copper (rhodanine, orcein and Timm's method). To this end, 74 liver needle biopsies from patients affected by W.D., 39 males and 35 females, aged 4-60 years (mean age 28.5 years), were stained with rhodanine (R), orcein (O) and Timm's (T) methods. On the basis of the histological picture, liver biopsies were subdivided in four evolutive stages: stage I = steatosis; stage II = interface hepatitis; stage III = bridging fibrosis; stage IV = cirrhosis. In stage I, histochemistry for copper was positive in 11 out of 21 cases: 6 cases were T+; 1 case R+ and 2 cases O+; 2 cases were T+, R+, O+. In stage II, 11 out of 14 cases were positive for copper staining: 4 T+, 2 R+ and 2 O+; 3 cases were contemporary positives for T, R, O. In stage III, 22 out of 25 cases resulted positive: 8 T+, 3 R+ and 1 O+; 10 cases were positives, in the mean time, for more of one method. In stage IV, 12 of 14 cases were positives: 5 T+, 2 R+, 2 O+ and 3 cases were contemporaneously positives for multiple methods. Our data show that: 1) the percentage of positivity obtained using three histochemical methods for copper is higher than using only one method. From a practical point of view, it is mandatory to utilize, in clinical practice, multiple histochemical stains in order to increase the diagnostic utility of histochemistry for copper; 2) the Timm's method appears to be the most sensitive method for the demonstration of copper in all stages of W.D.; 3) even though hepatic copper already abounds in the early stages of W.D., this pool of intrahepatic copper is not yet demonstrable with any of the three histochemical techniques utilized.

Wilson's disease (WD) is an inherited disorder of copper metabolism, characterized by copper accumulation in different organs. The clinical presentation of WD is variable: juvenile cirrhosis, with or without neurological symptoms, fulminant hepatitis, acute intravascular hemolysis or late onset with neurological or psychiatric symptoms. The histological picture, the histochemical stains and the ultrastructural findings of the liver are variable in WD. The recent cloning of the WD gene and the report of several mutations (at least 25) of the WD gene suggest the hypothesis that the clinical and pathological variability of this disease is related to a genetic polymorphism. These data may explain why the diagnosis of WD is often extremely difficult for the pathologist, since histochemical stains for copper may be highly variable or negative, despite increased levels of tissue copper concentrations. The most important pathological data are: 1) the evaluation of liver architecture, relevant in the staging of liver disease in three stages; 2) histochemistry for copper, which is variable and needs the use of multiple methods: Timm's method is probably the most useful one, since it shows copper deposits even in the first stage of WD, when liver changes are often reversible; 3) the determination of copper concentration may be crucial in WD diagnosis; copper levels exceeding 250 ug/g of dry tissue are considered diagnostic for the disease; 4) transmission electron microscopy shows, mainly in youngsters, mitochondrial changes considered typical of WD; the ultrastructural picture may be diagnostic for WD in cases with not specific histology and negative histochemical stains; 5) scanning electron microscopy after osmic maceration may be a new useful tool in the study of this liver disease: this technique may give both panoramic and high-power enlargements and allows the localization in the acinar zones of the intracellular hepatocytic changes. Finally, only the optimal approach to liver biopsy, obtaining the highest number of histological, histochemical, quantitative and ultrastructural data, may allow the pathologist to an early diagnosis of WD.