Basal cell carcinomas in a young woman with Steinert's disease.

Steinert's disease or Myotonic dystrophy type I (DM1) is an autosomal dominant disease characterized by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and electrocardiographic alterations.Several tumors have been associated with DM1 such as pilomatricoma, thymomas and insulinomas. Herein, we describe the unusual onset of multiple basal cell carcinomas in a young woman with DM1.

Superficial leiomyosarcoma of the glans: report of a case and literature review.

Primary leiomyosarcomas of the penis are rare. Clinically and pathologically, these tumors fall into two groups: superficial and deep. Superficial lesions usually are low grade and show a limited tendency toward distant metastasis. In contrast, deep-seated tumors usually show a more aggressive behavior associated with a poor prognosis. A 62-year-old man with a superficial leiomyosarcoma of the glans penis is reported.

Primary metastatic neuroendocrine small cell bladder cancer: a case report and literature review.

Small cell carcinoma of the urinary bladder (SCCUB) is a rare variant of neuroendocrine nonepithelial tumor. Clinically, SCCUB appears like a flat or ulcerated lesion and microscopically can cause microvascular invasion and necrosis. Small cell cancer, rarely found in the urogenital tract in a primitive form, usually coexists with urothelial bladder cancers. It has an incidence of 0.35-0.7% of all bladder neoplasms and survival at 5 years is estimated to be around 8%. A 60-year-old man who was a smoker was referred to our department with episodes of gross hematuria and pain in the lumbar region. After an extensive transurethral resection of the bladder, including of the muscular layer, the diagnosis of small cell carcinoma of the bladder was made. The neoplastic cells were positive with immunohistochemical staining for chromogranin A, paranuclear reactivity to cytokeratin and neuron-specific enolase. A total-body CT scan revealed lymph node involvement and hepatic, adrenal and lung metastases. Because of the advanced stage it was decided to avoid radical cystectomy and perform chemotherapy. The patient underwent two different cycles of cisplatin chemotherapy following international recommendations, but unfortunately without any response. After palliative therapy, the patient died in January 2010.

Keratoconus: the possible involvement of inflammatory cytokines in its pathogenesis. An experimental study and review of the literature.

OBJECTIVE: Keratoconus (KC) is generally described as a non-inflammatory disease, characterized by thinning in the central region of the cornea with consequent tissue degradation producing impaired visual acuity. MATERIALS AND METHODS: In our experimental study, we analyzed the presence and implications of several inflammatory cytokines in the corneal tissues of patients suffering from keratoconus by immunohistochemical analysis. RESULTS: The analysis showed increased levels of inflammatory factors in the pathological tissues compared to controls, confirming that KC cannot be considered an entirely non-inflammatory pathology and that its etiopathogenesis includes several chronic inflammatory events. CONCLUSIONS: In the light of these results, the classification of KC as an inflammatory pathology or as a pathology related to inflammation might be useful in directing future research aimed at developing effective anti-inflammatory therapies to pharmacologically target the inflammatory mediators which contribute to the development and progression of the disease.

[Gastrointestinal opportunistic infections and human immunodeficiency virus (HIV). Case report]. / Infezioni opprtuniste gastrointestinali e HIV. Caso clinico.

There have been millions of people found to have AIDS. Death rates from AIDS have declined 15% to 20% in the past 5 years. However, nearly 75000 people will die with AIDS in this year. Patients with AIDS are also at risk for developing both Aids-defining cancers, such as Kaposi's sarcoma and non-Hodgkin lymphoma, and non-Aids-defining cancers and opportunistic infections. In patients with advanced Aids, the Cytomegalovirus is a frequent cause of chorioretinitis, pneumonitis, chronic perineal ulcerations and oesophagitis. It has been involved in endocrine, bone marrow, central nervous system and kidney abnormalities. CMV infection of the small bowel accounts for only 4.3% of all cytomegalovirus infection of the GI tract (large bowel 47%, duodenum 21,7%, stomach 17,4%); isolated cases of small bowel perforation due to CMV have been reported in AIDS patients, and all but one patient died. The Authors report a rare case of an HIV-positive young man with gastroenteric Cytomegalovirus infection responsible for generalized peritonitis from multiple perforations.

Axillary ectopic lobular carcinoma of breast: two rare case reports.

OBJECTIVE: The presence of ectopic or supernumerary breast tissue is a rare event, related to a not complete regression of breast tissue along the milk line. Primary ectopic breast cancer of the axilla can create many difficulties in differential diagnosis with subsequent delayed specific treatments. The incidence of ectopic breast tissue is 0.2-6%, and the axilla is the most common site involved. In this tissue, the same physiologic and pathologic changes as seen in ectopic breast tissue may occur, including carcinoma formation. PATIENTS AND METHODS: Two patients (a 56 years old and 70 years old women) came to our attention for the recent development painless nodular axillary lesions, clinically characterized by an increased thickness, irregular margins and adherence to the floors below. RESULTS: Patients underwent ultrasonography (US) and mammography (MMG) revealing non-specific features of the lesions. Magnetic resonance imaging (MRI), demonstrated margins slightly irregular and a non-specific appearance of each lesion. Both patients underwent wide local excision with axillary lymph node dissection. Histological examination showed infiltrating lobular carcinomas of the breasts. CONCLUSIONS: We describe two unusual cases of ectopic axillary breast carcinoma localization. It is important a correct and fast diagnosis with a local examination, diagnostic instruments, surgical excision and histological examination.

Altered expression of hMSH2 in sporadic colorectal cancer, surrounding mucosa and at distant colonic mucosa.

BACKGROUND: Mismatch repair gene hMSH2 is involved in correction of mispairing during replication and its mutation is associated both with microsatellite instability and with hereditary colorectal cancer. We evaluated its involvement in sporadic colorectal cancer tumorigenesis too. MATERIALS AND METHODS: The protein expression pattern of hMSH2 was evaluated on 29 cases of resected sporadic adenocarcinoma using an immunohistochemical approach. RESULTS: In 14 cases, lack of hMSH2 protein expression was observed in adenocarcinoma and in peritumoral mucosa. In 12 patients, hMSH2 resulted in strong expression in the tumour as well as in the surrounding mucosa and at distant mucosa. In three cases, hMSH2 protein expression in tumoral, adjacent and at distance normal mucosa resulted negative. CONCLUSION: Repair genes could play an important role in tumour progression and in sporadic colorectal cancer. Detection of protein expression by immunohistochemistry may be a method to select tumours for successive genetic investigations.

Detection of Chlamydia pneumoniae in atherosclerotic coronary arteries.

Chlamydia pneumoniae has recently been associated with the development of coronary heart diseases by sero-epidemiological studies and by direct detection of the organism in atherosclerotic tissues. The aim of our study was to employ a semi-nested PCR approach to investigate the presence of C. pneumoniae in both normal and atherosclerotic coronary arteries of humans obtained at autopsy. Moreover, we have evaluated the role of infection with C. pneumoniae in relation to the extent of coronary atherosclerosis. One hundred and eighty coronary artery specimens were collected at autopsy from 60 consecutive subjects (three arterial segments from each subject). Atherosclerosis in each arterial segment was graded histologically by the Stary classification. Thirty normal coronary arteries were also taken at autopsy as control. PCR results evidenced the presence of C. pneumoniae DNA in atherosclerotic coronary arteries in 19 (31.7%) of 60 subjects examined, while none of the 30 subjects with non-atherosclerotic tissues was positive (p=0.001). Moreover, of the 180 atherosclerotic specimens examined, C. pneumoniae DNA was detected in 3.4% (2/59) of mild atherosclerotic lesions, and in 14.0% (17/121) of advanced atherosclerotic lesions (p=0.05). Our results demonstrate that the presence of C. pneumoniae DNA may be associated with the severity of coronary atherosclerosis.

Oral focal mucinosis of the tongue.

Oral focal mucinosis (OFM) is an uncommon clinicopathological entity which is considered to be the oral counterpart of cutaneous focal mucinosis and cutaneous myxoid cyst. It is comprised of a clinically elevated mass with a histological feature of localised areas of myxomatous connective tissue. The present study adds a rare case of OFM of the tongue to the literature, and we present a review of the most characteristic oral myxomatous lesions.

Tenascin expression in elastotic cuffs of invasive ductal carcinoma of the breast.

We studied immunohistochemically one thousand one hundred and thirty-seven cases of primary invasive breast cancers (NST) and adjacent normal mammary glands for tenascin expression, and compared their elastic content to verify if a relationship exists between tenascin expression and elastosis. Periductal, perivascular and stromal elastosis were graded on a scale from 0 to 3 (absent to massive). All carcinomas showed tenascin expression and elastosis with various histological appearances. In the adjacent breast, teanscon was distributed around the normal ducts or with extasia and uctal hyperplasia without atypia. Digestion of the sections with elastase prior to staining resulted in a loss of the specific staining reactions in all areas where elastosis was present. Tenascin staining was observed in the mesenchyme closely surrounding the neoplastic ducts and the cancer cell nests. Stromal tenascin staining appeared stronger in those carcinomas that exhibited marked desmoplastic reactions. The highly differentiated tumours contained more elastosis in their tumour tissue than the poorly differentiated ones, whereas tenascin expression was stronger in poorly differentiated tumours than well differentiated tumours. A strong staining for tenascin was observed in the elastotic cuff. Tenascin staining did not disappear afterwards with elastase. We did not find a statistically significant correlation between tenascin expression, elastosis and prognostic factors such as size of the tumour, lymph node metastasis, tumour necrosis and age. In our study tenascin proved to be an additional element in elastotic areas even though the significance of an association between elastosis and tenascin is still unknown, as is that of elastosis itself.

Benign tumors of heterotopic tissue in the thyroid gland: a report of two cases of lipomatous lesions.

A report of two cases, concerning heterotopic nests of fat cells in the thyroid gland, is presented here together with a review of lipomatous lesions in the literature. Both cases involved patients who presented with goiter; one had Grave's disease and the other had adenomatous hyperplasia. The fat cells were principally located in the subcapsular areas and scattered among the follicles. The distribution of the immunohistochemical staining, and the morphologic characteristics of the adipose tissue, suggested a probable origin of the fat cells from inclusion nests during embryogenesis of the thyroid gland.

Expression of bcl-2, c-erbB-2, p53, and p21 (waf1-cip1) protein in thyroid carcinomas.

The study was carried out on 53 patients who had thyroid cancer with various degree of differentiation. We studied the expression of bcl-2, a-erbB-2, p53, and p21 ras protein. The protein encoded by bCL-2 proto-oncogene is implicated in the prolongation of cell survival by blocking programmed cell death, i.e. apoptosis. The role of p53 and bcl-2 genes in the regulation of apoptosis has important implications in oncogenesis. Wild-type p53 is thought to promote apoptosis, whilst mutant p53 has a similar effect on apoptosis as bcl-2 that is inhibition of programmed cell kinase activity. C-erb-2 protein overexpression is currently being evaluated as a potential risk factor in breast cancer patients? The ras gene family codes for a 21 kD protein (p21), which binds guanine nucleotides and possesses GTPase activity. Through this mechanism, the ras p21 protein participates in the control of cell proliferation, possibly as a signal transducer from cell surface receptors to the nucleus. Activation of ras genes has been implicated in neoplastic transformation of cells. The aim of our study is to evaluate the expression of these markers in thyroid carcinomas. All immunohistochemical study was performed in paraffin-embedded tissues pathology specimen. Any well differentiated tumor in our study was positive for bcl-2 protein. C-erb-2 immunostaining was present in tumor samples in 60% of cases. In most cases, specific membrane staining as well as a weak cytoplasmic positivity of tumor cells were seen. Immunoreactivity for p53 was positive only in 10% of cases. By immunostaining, p21 protein was expressed in 55% of the 53 tumors tested, with different degree of expression. Only some poorly differentiated tumours were positive for bcl-2, furthermore all markers tested were strongly positive in these tumours. In conclusion, our results indicate that bcl-2, c-erbB-2, p53, and p21 ras protein are differently expressed in thyroid carcinomas in relation to the degree of aggressiveness and differentiation.

Calcified retroperitoneal fibroma.

A case of 31-year-old male with a retroperitoneal tumor is described. Abdominal ultrasound revealed a left para-aortic calcific mass, adjacent to the left lobe of the liver and to the upper pole of the left kidney. A CT-scan of the abdomen showed the mass to originate from the left adrenal gland. At operation, a large, retroperitoneal mass, adherent to the left kidney and the spleen, but not infiltrating, was excised. Histologically the tumor was diagnosed as a calcified osteo-producing fibroma. Benign retroperitoneal tumors represent about 25% of all retroperitoneal neoplasm. This reported case represents a retroperitoneal tumor of slow growth and benign clinical course whose characteristic consists of the heavy calcifications which are normally absent in a fibroma type mass.

Inductive inference from noisy examples using the hybrid finite state filter.

Recurrent neural networks processing symbolic strings can be regarded as adaptive neural parsers. Given a set of positive and negative examples, picked up from a given language, adaptive neural parsers can effectively be trained to infer the language grammar. In this paper we use adaptive neural parsers to face the problem of inferring grammars from examples that are corrupted by a kind of noise that simply changes their membership.We propose a training algorithm, referred to as hybrid finite state filter (HFF), which is based on a parsimony principle that penalizes the development of complex rules.We report very promising experimental results showing that the proposed inductive inference scheme is indeed capable of capturing rules, while removing noise.

[Secondary costal myxoid chondrosarcoma. Presentation of a clinical case]. / Condrosarcoma mixoide costale secondario. Presentazione di un caso clinico.

A type of malignant neoplasm of not frequent observation is reported and the difficulties concerning the distinction from the benign counterpart are underlined, for which a detailed instrumental study is made necessary, integrated with pre and, above all, postoperative histologic analysis. A white male patient of 83, affected by plurirecidivant chondromyxoma of the rib, was admitted for local recurrence. The lesion objectively appeared not dissimilar from the preceding ones, as an ovalar mass fixed on the underlying plains. Radiologic and ultrasonographic examinations seemed to confirm the admission diagnosis; at the end the patient underwent a new intervention. Histologic examination of the lesion yielded a diagnosis of chondromyxosarcoma. The clinical case is made even more interesting by the finding, through the TC technique, preoperatively performed, of a metastatic repetition on the opposite side. The authors examine the problem of the early recognition of a malignant neoplasm developing, in a patient with a clinical history of recidival chondromyxoma. Physical examination and laboratory analysis are not useful in the assessment of the occurring transformation. At molecular level chondromyxosarcoma is characterized by several genomic rearrangements and mutations. Though primitive chondromyxosarcoma often involves the ribs, chondromyxoma's transformation into its malignant counterpart is not a common event. The development of distant metastasis characterizes long term cases. Given the lack of encouraging results about chemo and radio-therapy efficacy in influencing the natural course of the disease, a systematic approach will be made necessary in patient management.

[Angiodysplasia of the large intestine: unusual rectal localization]. / L'angiodisplasia del grosso intestino: una rara localizzazione rettale.

The authors report a case of lower gastrointestinal hemorrhage in a 69-year-old male, in which the sequence colonoscopy-angiography identified the source of bleeding as a rare Angiodysplasia (AD) of the rectum. Such vascular abnormalities are one of the most common causes of major lower gastrointestinal tract bleeding in the elderly and usually occurs predominantly in the right side of the colon. The clinical presentation of Angiodysplasia is varied and accurate diagnosis usually requires a combination of diagnostic techniques such as colonoscopy and angiography. The optimal management is uncertain and should be individualized for each patient depending on severity and rate of rebleeding. A conservative medical approach is indicated for many patients, while endoscopic treatment does not seem modify the risk of recurrent bleeding. In case of massive hemorrhage or recurrent bleeding surgery still represents the definitive treatment for Angiodysplasia. However the risk of rebleeding following surgery is a considerable problem and varies in literature from 5% to 30%.

[Prognostic markers of the epithelial tumors of the large intestine]. / Indicatori prognostici della patologia tumorale di tipo epiteliale del grosso intestino.

The surgical treatment of large bowel malignant tumors is now the most important therapeutic approach. The aim of our study was to evaluate a possible prognostic implication of ploidy and NM23 expression. The study includes 120 non selected patients who underwent surgery for colorectal cancer. The analysis of ploidy was obtained with cytometric test. The cases with only one gaff G0/G1 were considered as diploid. Patteras with more than one aneuploidic population were classified as multiploidic or poliploidic. While NM23 expression was evaluated with a double blind retrospective study by two separate equipe of authors in different centres. NM23 positivity degree was classified in 3 classes: absent or weak if < 10%; moderate if 10-50%; strong if > 50%. Forty-two patients (35%) were classified as diploidic; 30 patients (25%) as aneuploidic; 40 patients (33.2%) as multiploidic; in 8 cases (6.7%) the material was inadequate. Among the two groups who evaluated NM23 expression the group I a positivity: absent or weak in 32 cases (26.7%); moderate in 62 cases (51.7%); strong in 26 cases (21.6%); while the group II shows positivity: absent or weak in 30 cases (25%); moderate in 52 cases (43.3%); strong in 38 cases (31.7%). We cannot consider ploidy and the NM23 research as independent prognostic factor.

[Adrenal hemorrhagic cysts: apropos of a clinical case and review of the literature]. / Cisti emorragiche del surrene: a proposito di un caso clinico e revisione della letteratura.

Adrenal cysts are uncommon lesion and present complex problems in differential diagnosis. The treatment options are not univocal. Starting from the study of a personal case the authors review the existing literature and discuss the problem of diagnosis and treatment.