Congenital disorder of true cyclopia with polydactylia: case report and review of the literature.

Cyclopia is a rare type of holoprosencephaly and a congenital disorder characterized by the failure of the embryonic forebrain to properly divide the orbits of the eye into two cavities (the embryonic forebrain is normally responsible for inducing the development of the orbits). As a result a birth defect in which there is only one eye is developed. This eye is centrally placed in the area normally occupied by the root of the nose. As a rule, there is a missing nose or a non-functioning nose in the form of a proboscis (a tubular appendage) located above the central eye. In this report the macroscopic, radiographic, and immunohistochemical findings of a case of true cyclopia in a female fetus are described. Cyclopia is a lethal condition that is associated with dramatic symmetric deformities of the nose, skull, orbits, and brain.

A case of diffuse bilateral scrotal neurofibroma in a rabbit.

This report details a rare case of diffuse bilateral scrotal neurofibroma complicated by hindlimb paralysis in a rabbit. The animal was evaluated for unusual bilateral scrotal enlargement. After physical examination, ultrasound scan, radiography, computed tomography and laparoscopy, surgical exploration of the scrotum was undertaken. A homogeneous rubbery firm mass was revealed in contact with the subcutaneous tissue expanding to the entire scrotum without involving the testicles. The mass was excised and diagnosed as diffuse scrotal neurofibroma based on histological and immunohistochemical findings (S-100 antibody positive). Over the following month, progressive neurological signs (faecal incontinence, flaccid bladder and hindlimb paralysis) were observed. After excluding central nervous system infection with Encephalitozoon cuniculi, expansion of the neurofibroma to the vertebral canal causing compression of the spinal cord was suspected, although not histopathologically verified.

Laparoscopic mesh repair of parastomal hernia. Is it a sufficient and free of complication technique? a case presentation and review of the literature.

Parastomal hernia is a complication of stoma formation. It is accompanied by high morbidity. It affects stoma's function and patient's quality of life. There several alternative treatment options including stoma relocation, primary prophylactic repair during the stoma construction and open or laparoscopic mesh repair. We describe the case of a young woman with Crohn's disease that presented a parastomal hernia at the site of an ileostomy. We performed a laparoscopic mesh placement and repair of the hernia. After 28 months of follow-up, the patient remains complications and recurrence-free. The laparoscopic mesh repair is a challenging way to treat parastomal hernias. In the studies have been done so far comparing this approach with the other alternative treatments, the laparoscopic way seems to offer remarkable therapeutic results with minor complication and recurrence rates. Our department's experience is suggesting that laparoscopic repair is an effective and sufficient treatment option.

Intraoperative touch imprint cytological analysis of sentinel lymph nodes for the presence of metastases in malignant melanoma.

AIM: Sentinel lymph node (SLN) biopsy has revolutionized lymph node staging in patients with malignant melanoma. Intraoperative evaluation is a new addition to the SLN procedure that allows for a one-step regional lymph node dissection to be performed when the SLN biopsy findings are positive. The discriminatory immunostaining pattern with the S-100 and HMB45 monoclonal antibodies allows intraoperative immunocytochemical evaluation of imprint smears of SLNs for melanoma metastases. METHODS: One hundred twenty eight SLNs from a cohort of 52 patient-cases that had been identified using sulfur colloid as a radioactive tracer and isosulfan blue were bisected for rapid Diff-Quick stained touch preparations. Intraopera-tive evaluation of sentinel node status by imprint cytology was correlated with the histopathological results of permanent sections. Tumor-negative nodes in routine paraffin sections were further investigated with the employment of the S-100 and HMB45 antibodies. RESULTS: Thirty-six of all SLNs harbored metastases in paraffin sections, from which 32 were identified by imprint cytology (sensitivity 88.8%). Three SLNs were positive by imprint cytology and negative by histopathology of paraffin sections. Comparison of the results of the touch preparations with the final histopathology (hematoxylin-eosin and S-100/ HMB45 stains) demonstrated a sensitivity of 83.3% and a negative predictive value of 92.5%. The specificity and positive predictive value were 100% respectively. CONCLUSION: Touch imprint cytology is potentially useful for intraoperative evaluation of SLNs in malignant melanoma patients. Results can be improved if the surface sampled is appropriately enlarged and a rapid immunohistochemical S-100/HMB45 stain on the imprints is utilized.

Induction of hepatic haematopoiesis with fibronectin expression by EMT stromal cells during the second trimester of development.

In an initial period of vertebrate phylogeny (bone marrow-less vertebrates), lymphohaematopoiesis takes place in numerous organs containing a suitable microenvironment. Among other organs (i.e., gonads, kidney and spleen), the liver is apparently the most appropriate site for homing and differentiation of haematopoietic cell precursors. Interaction between haematopoietic cells and stromal cells is important for regulation of haematopoiesis. Numerous soluble and membrane-bound factors directly regulating haematopoiesis have been documented, but little is known about the effect of the foetal hepatic epithelial-to-mesenchymal transition (EMT) stromal cells' activity and their product-fibronectin, on foetal hepatic haematopoiesis. The binding of late-stage erythroid cells to FN has been well characterised and is believed to be critical for the terminal stages of erythroid differentiation. The intention of this article is to provide a quantitative overview of FN, produced by hepatic EMT stromal cells, in foetal hepatic haematopoiesis during the first and second trimester of development. Paraffin-embedded specimens from the liver of 30 human embryos in the first and second trimesters of gestation were investigated by conventional histology and immunohistology for the presence of FN and specific haematopoietic cell types. The staining intensity, and localisation of FN and haematopoietic markers in sequential sections were examined. Furthermore, double immunohistochemical staining was performed to assess simultaneous detection of FN and haematopoietic markers. FN was expressed in the EMT stromal cells of the hepatic portal triads more strongly during the second trimester than the first. Furthermore, an intense immunostaining for haematopoietic lineages, and especially for erythropoiesis, was observed in the second trimester compared to the first. The results of the double immunostaining disclosed an intimate co-expression of the FN and CD haematopoietic markers. Foetal hepatic EMT stromal cells provide a unique microenvironment that supports the emergence, expansion and maintenance of human foetal haematopoietic development during the mid-gestational stage. FN produced by the EMT stromal cells follows a time course parallel to that of haematopoiesis. We suggest that in foetal liver, phenotypic modifications of EMT stromal cells expressing FN concerning the cell adhesion capacity of the protein are associated with proliferation and differentiation of specific haematopoietic cell lineages during the second trimester of gestation, probably reflecting the increasing demand of the growing foetus for mature erythroid and myeloid cells.

High grade primary adrenal intravascular large B-cell lymphoma manifesting as Addison disease.

We report a rare case of a 68 aged male who presented with adrenal failure and was diagnosed of high grade large B-cell lymphoma primarily arising in the adrenal glands. The patient was administrated with additional chemotherapy but he passed away 7 months later due to infection in the lungs. Intravascular lymphoma should be suspected in patients with bilateral adrenal masses who present with rapidly progressive adrenal insufficiency.

Oral complaints caused from metastases to the mandible and maxilla.

Jaw bone disorders causing oral complaints are common in primary care settings. Most of these conditions are of a chronic and benign nature. However they also may be the symptoms of a primary or secondary malignant process in the bone. The most common malignant bone tumor is metastatic carcinoma, and tumors arising in the breast, prostate, thyroid, lung and kidney have a special propensity to spread to bone. Yet metastases to the bones are rare; less than one per cent of all neoplasms metastases to the maxillofacial area. We describe four cases of metastatic tumours to the jaws. Two cases originated from the thyroid gland while the rest were from the oesophagus and the liver respectively. Three lesions occurred in the mandible and one in the maxilla. Patients presented with oral discomforts disregarding the primary tumor. Physicians who frequently advise patients with oral complaints should keep in mind that whereas these symptoms are mostly of a chronic and benign nature, metastases from a malignant tumor must be included in the differential diagnosis.

Clinical, radiological and histological correlation in the diagnostic work-up of cemento-ossifying fibroma of the maxilla: case report.

Cemento-ossifying fibroma is a relatively rare tumor classified between fibro-osseous lesions. This lesion appears within the bone although in some occasions it involves the gingivae soft tissues. It is a slow growing and well-defined tumorous lesion, because of this, it is considered as a benign lesion. We report a case of a young female presenting a mass in the right cheek. The evolution of the process was 4 years. She was treated with surgical resection via a Weber-Fergusson approach. The histology was that of a benign fibro-osseous proliferation composed of bony spicules and spherules admixed with a fibrous stroma. Clinical and radiological information was essential for the final diagnosis. The histologic findings alone may be similar to other pathologies such as osteoblastoma, low-grade osteosarcoma and particularly to fibrous dysplasia. An accurate diagnosis requires careful clinical, radiological and histological correlation in order to make an optimal treatment and an excellent outcome.

Primary MALT lymphomas of the stomach: a pathological study of 18 cases.

AIM: It is doubtful that whoever is suffering from gastric malt lymphoma will escape from the disease, if treated with medication against helicobacter pylori. MATERIAL AND METHODS: A cohort of 18 patients was analysed. Ten hosts had primary gastric malt lymphoma and were treated with gastric resection as the initial therapy. Eight hosts received antibiotics against Helicobacter pylori as the initial treatment. In all 18 patients Helicobacter pylori status, endoscopic findings and pathology features were evaluated. Immunohistochemistry was performed to assess the bcl-2 and p53 status. RESULTS: Patients with low grade malt lymphoma: a) were Helicobacter pylori positive (5 of 5); b) had a superficial lesion (5 of 5); c) had no lymph node involvement (5 of 5); and d) were downstaged by comparison to patients with high grade tumor. Bcl-2 was positive in 4 of 5 low grade tumors, and p53 was positive in 12 of 13 high grade ones. Investigation of patients with 5-year follow up (n = 18) revealed that all but one low-grade tumors remained superficial with no progression. These tumors were bcl-2+/p53-, and the one with a bcl-2+/p53+ immunophenotype progressed to an ulcerated low-grade tumor after disappearance of Helicobacter pylori. Complete regression was found in 6 of 8 patients from the non surgically treated group (n = 8) after Helicobacter pylori eradication. These tumors were superficial/low grade/node negative/bcl-2+/p53 inconclusive (n = 2), superficial/low grade/node negative/bcl-2+/p53- (n = 2), and ulcerative/high grade/node negative/bcl-2+/p53- (n = 2). The two persistent tumors were ulcerative/high grade/node negative/bcl-2+/p53+. CONCLUSION: Gastric malt lymphoma Helicobacter pylori+/superficial/low grade/bcl-2+/p53- will disappear after Helicobacter pylori eradication.

Primary combined carcinoid and adenocarcinoma of the ileum associated with transitional carcinoma of the bladder. Single case report.

Composite neoplasms, carcinoid and adenocarcinoma have been reported to occur in several parts of the body, including the stomach, ampulla of Vater, large bowel, lung, and urinary bladder. Here we report a case of a 74-year-old male with a composite carcinoid-adenocarcinoma of the ileum associated with a transitional cell carcinoma of the bladder. The microscopical examination of the composite tumor showed an admixture of typical carcinoid tumor and moderately a differentiated adenocarcinoma. Immunohistochemically, the two components showed clear-cut differentiations. A review of the literature revealed that this is the first reported case of composite carcinoid-adenocarcinoma of the ileum associated with transitional cell carcinoma of the urinary bladder.

Concurrent low grade B-cell non-Hodgkin's lymphoma of MALT type arising in the large intestine, small intestine and stomach.

Low-grade non-Hodgkin's lymphomas (NHL) of mucosa associated lymphoid tissue (MALT) are indolent neoplasms that, although tending to remain localized for many years, may spread to other mucosal sites. Despite increasing identification of concurrent gastric and intestinal lymphoma of MALT type, the clonal relationship between the tumors and their sequential development are poorly understood. It is also unknown whether the development of these concurrent tumors is closely associated with direct antigen stimulation, which is thought to play an important role in the clonal expansion of low grade MALT lymphomas. The most important function of B-cells is production of specific antibodies. This is largely achieved during B-cell development by recombination of the Ig heavy chain variable (V), diversity (D), and joining (J) segments and hypermutation of the rearranged gene. The rearranged Ig genes of a mature B-cell record much of its evolution history. We report a case of synchronous development of intestinal and gastric low grade MALT lymphomas in a 70 years old female and discuss their possible clonal relationship and sequential appearance.

A stromal myoid cell line provokes thymic T-cell immigration at the second and third gestational trimesters.

UNLABELLED: Once lymphoid precursors enter the thymus form the blood stream, they come into contact with thymic stromal cells that guide their maturation into functionally competent T cells. Thymic myoid cells are one such cell type. They have been described as a regular constituent of the thymus of embryonic and young vertebrates and express muscle proteins including myosin, desmin, acetylcholine receptor (AChR), C-protein, MyoD, troponin T, rapsyn, and utrophin. It has been emphasized recently that the thymic myoid cells play an important role in the protection of thymocytes from apoptosis, and in the process of T-cell differentiation and maturation. AIM: To provide a quantitative estimation of thymic myoid cells and T-cell population in different stages of development. A probable interaction between these two populations could explain an additional mechanism to the active T-cell migration from the thymus that is a direct contact to a specific myoid cell line. MATERIALS AND METHODS: Paraffin-embedded specimens from the thymus of forty five human embryos at the first, second and third trimester of gestation respectively, were investigated by conventional histology, and immunohistology for the presence in the stroma of the thymic medulla, of myosin in the myoid cells, and UCHL1 (pan T-cell) antigen in the medullary thymocytes. RESULTS: Our results demonstrated a quantitative difference in the second and third trimester of development concerning the expression of myosin in the stromal myoid cells of the thymic medulla over the equivalent expression of the protein in the first trimester. Similar changes in the above periods were found concerning the population of medullary thymocytes expressing UCHL1 antigen. CONCLUSIONS: Our results indicate that: (1) Thymic myoid cells play an important role in the thymic microenvironment as they are well conserved throughout species evolution. (2) The increased population of myoid cells in the medullary area during mid and late gestational age, in comparison with first trimester, probably reflects the increased demand of the growing fetus for mature T lymphocytes. Contractions of myoid cells mediated by their cytoplasmic structural proteins, including myosin which is well preserved during development, might aid the movement of thymocytes expressing UCHL1 antigen, across or out of the gland, suggesting a potential involvement of myoid cells in the thymic function. Further studies on larger series are needed to corroborate this.

Loss of chromosome 1 in myxopapillary ependymoma suggests a region out of chromosome 22 as critical for tumour biology: a FISH analysis of four cases on touch imprint smears.

OBJECTIVE: Ependymomas are glial tumours. They constitute approximately 5-10% of intracranial tumours and are tumours which can recur. Predictive factors of outcome in ependymomas are not well established. Karyotypic studies are relatively scarce and loss of chromosome 22 has been described to correlate with recurrence. We are unaware of any reports involving chromosome 1 aberrations in the malignant progression of ependymomas. METHODS: Cytogenetic analysis of four myxopapillary ependymomas was performed using double target fluorescent in situ hybridization (FISH), focusing on chromosomes 1 and 22. RESULTS: One patient's tumour had recurred. FISH was performed on 500 nuclei/tumours. All four cases showed a loss of chromosome 22q while only one showed an additional loss of chromosome 1p, and this was the one that recurred. CONCLUSIONS: We support the presence of a tumour suppressor gene on 1p associated with relapse in myxopapillary ependymomas and suggest that status of chromosome 1p by FISH may indicate a high-risk group of patients harbouring this tumour. More studies of this type are needed towards this direction as our results refer to a minimal number of individuals analysed.

Distribution of somatostatin in pancreatic ductal adenocarcinoma remodels the normal pattern of the protein during foetal pancreatic development: an immunohistochemical analysis.

AIM: To determine the immunoreactivity of somatostatin during the development of the human fetal pancreas and pancreatic ductal adenocarcinoma, given that, somatostatin-positive cells were demonstrated either into its embryonic anlage or into pancreatic cancer. METHODS: Tissue sections from 15 pancreatic fetal specimens, and an equal number of ductal adenocarcinoma specimens were assessed. RESULTS: The density of positive cells in the primitive exocrine ductal epithelium and endocrine epithelium was significantly different from the relevant density in the neoplastic pancreatic tissue of mixed (ductal-endocrine) and pure ductal type (P1=0.021 P2=0.001, P3<0.0001, P4=0.003 respectively). The above values were estimated from the 8th to 10th week. There was no significant difference in the density of positive cells in the mantle zone of the islets from the 13th to the 24th week, and the neoplastic tissue of mixed (P5=0.16) and pure ductal type (P6=0.65). CONCLUSION: The immunostaining for somatostatin identifies a subgroup of pancreatic ductal adenocarcinomas with a neuroendocrine component, (initially considered as pure ductal tumors), and mixed ductal and neuroendocrine tumors. This pattern of expression in neoplasms recapitulates the normal pattern during the embryonal development of the organ, raising the question of therapeutic efficacy of somatostatin and analogues as monotherapy in pancreatic cancer management.

Clinicopathologic and prognostic significance of cyclooxygenase-2 expression in endometrial carcinoma.

BACKGROUND: Endometrial carcinoma is the most common malignancy of the female genital tract in the Western world. COX-2 is highly expressed in endometrial carcinoma, but there is controversy regarding its clinical role and its possible prognostic role. COX-2 expression was determined by immuno-histochemistry and was correlated to standard clinico-pathologic variables in a series of primary untreated endometrial carcinoma patients. COX-2 as an accurate predictor of the disease was also analyzed. METHODS: One-hundred and ten cases of primary untreated endometrial carcinoma hosts who were admitted to the Department of Obstetrics and Gynecology, University General Hospital of Alexandroupolis, were investigated. Immunohistochemistry was performed using rabbit polyclonal antiserum against human COX-2. RESULTS: Twenty-eight patients (25.5%) were scored as COX-2 positive. A statistically significant association was found between COX-2 overexpression and FIGO stage (p=0.010). A positive correlation was also found with histological grade (p=0.019) and myometrial invasion (p=0.026). No significant association was found with histologic type of the tumor (p=0.164). COX-2 positive patients had a significant association with sort survival (p=0.028). CONCLUSIONS: COX-2 expression is an independent clinicopathologic factor and an independent prognostic factor in endometrial carcinoma. It could be used to plan treatment modalities for hosts.

Primary gastric Hodgkin's lymphoma: a case report and review of the literature.

Primary gastric Hodgkin's lymphoma is a rarely encountered lesion. Most cases are observed in the course of systemic disease. Other cases have been reclassified in retrospective studies as non-Hodgkin's lymphomas, after the employment of immunohistochemistry. Some Hodgkin's lymphomas may masquerade non-Hodgkin's lymphomas, and vice versa. Therefore, an accurate diagnosis is important, as treatment and outcome differ significantly for these entities. We report a case of primary Hodgkin's lymphoma arising in the stomach of a 46-year-old male, and discuss the diagnostic approach as well as the differentials of Hodgkin's disease in this anatomic site.

Bilateral metastatic rhabdomyosarcoma to the breast in an adolescent female: touch imprint cytology and implication of MyoD1 nuclear antigen.

BACKGROUND: Rhabdomyosarcoma accounts for approximately 4% of all childhood malignancies. Breast metastases from rhabdomyosarcoma are uncommon with an incidence of 6%. CASE REPORT: We present a patient who developed bilateral mammary metastases from rhabdomyosarcoma arising in the right lower extremity. An 11-year-old female with a 20-month history of rhabdomyosarcoma was referred to our department because of bilateral breast enlargement. A needle core biopsy was performed and touch imprint slides were obtained. Cytology determined the masses to be metastases of rhabdomyosarcoma. MyoD1 immunostain and RT-PCR analysis confirmed the diagnosis. CONCLUSIONS: Cytomorphology with ancillary methods is essential in the diagnosis of metastatic breast deposits in order to avoid unnecessary mastectomy and to employ systemic treatment.

Inflammatory pseudotumor of the spleen.

We report a case of a patient with inflammatory pseudotumor (IPT) of the spleen. IPTs can appear at many sites and represent rear lesions of uncertain etiopathogenesis. Usually they present as mass lesions, so the clinical and radiologic features often suggest malignancy. However, the microscopic findings are quite characteristic, and the diagnosis can be made readily by identifying the reactive nature of the cells. Diagnostic problems can arise when these lesions occur in lymphoid organs or the spleen.

Diffuse large B-cell lymphoma arising from a multicentric mixed variant of Castleman's disease.

This case report describes a patient with multicentric mixed type Castleman's disease and concomitant non-Hodgkin's lymphoma of diffuse large B cell type in the neck. Multicentric CD is a systemic illness with disseminated lymphadenopathy; its aggressive and usually fatal course is associated with infectious complications and risk for malignant tumors, such as lymphoma or Kaposi sarcoma.