Koppany Bodo

Histological assessment of PAXgene tissue fixation and stabilization reagents.

Within SPIDIA, an EC FP7 project aimed to improve pre analytic procedures, the PAXgene Tissue System (PAXgene), was designed to improve tissue quality for parallel molecular and morphological analysis. Within the SPIDIA project promising results were found in both genomic and proteomic experiments with PAXgene-fixed and paraffin embedded tissue derived biomolecules. But, for this technology to be accepted for use in both clinical and basic research, it is essential that its adequacy for preserving morphology and antigenicity is validated relative to formalin fixation. It is our aim to assess the suitability of PAXgene tissue fixation for (immuno)histological methods. Normal human tissue specimens (n = 70) were collected and divided into equal parts for fixation either with formalin or PAXgene. Sections of the obtained paraffin-embedded tissue were cut and stained. Morphological aspects of PAXgene-fixed tissue were described and also scored relative to formalin-fixed tissue. Performance of PAXgene-fixed tissue in immunohistochemical and in situ hybridization assays was also assessed relative to the corresponding formalin-fixed tissues. Morphology of PAXgene-fixed paraffin embedded tissue was well preserved and deemed adequate for diagnostics in most cases. Some antigens in PAXgene-fixed and paraffin embedded sections were detectable without the need for antigen retrieval, while others were detected using standard, formalin fixation based, immunohistochemistry protocols. Comparable results were obtained with in situ hybridization and histochemical stains. Basically all assessed histological techniques were found to be applicable to PAXgene-fixed and paraffin embedded tissue. In general results obtained with PAXgene-fixed tissue are comparable to those of formalin-fixed tissue. Compromises made in morphology can be called minor compared to the advantages in the molecular pathology possibilities.

A rare case of infantile myofibromatosis and review of literature.

Infantile myofibromatosis is a rare benign tumor-disease (1/400,000). Four different types have been reported in literature. The most commonly affected body areas are the head, the neck, and the trunk. We would like to present a rare case of a multicentric type with singular visceral involvement and a literature review of all case series with more than five patients. A 9-month-old boy presented with a swelling on the medial side of his proximal left tibia. The lesion which was present since birth, was well palpable, indolent, hard, and mobile in relation to the surrounding tissue. Radiographic films and ultrasound examination presented a pretibial soft-tissue tumor mass with calcifications and two osteolytic lesions with a sclerotic rim. A skeletal survey showed more osteolytic lesions, but the magnetic resonance imaging showed no more soft-tissue lesions. The rapid frozen section biopsy hinted at the diagnosis of histiocytosis X. The definitive histological result 6 days later was infantile myofibromatosis. As therapy, we determined a wait-and-see policy with controls all 3 months. At 20 months follow-up, the boy showed beginning of regression of all lesions. Infantile myofibromatosis is a very rare benign tumor-disease. Radiologically often soft-tissue masses with calcifications and osteolytic lesions with sclerotic rims are described. These findings also can be interpreted as histiocytosis X, which is a potential differential diagnosis. Histopathologically, cells characteristically appear as spindle-shaped fibroblast cells with pale pink cytoplasm and elongated nuclei and the immunophenotype is defined with a positive reaction on smooth-muscle antigen vimentin and the muscle-specific antigen HHF-35. The data of the literature review underline that a wait-and-see-policy should be considered as the first treatment of choice as in most instances the bony lesions regress spontaneously. However, a thorough examination has to be carried out to exclude lesion in other organs like gastro-intestinal or cardio-pulmonary nodular tumor masses. In conclusion, the present case report and the literature review support the notion that infantile myofibromatosis should be considered as a possible differential diagnosis for soft tissue expansions and/or osteolytic lesions in a newborn.

Two cases of calcaneal osteosarcomas presenting as aneurysmal bone cysts.

Aneurysmal bone cysts (ABC) (benign lesions of bone that can arise as a primary or secondary lesions to other bone pathology) and osteosarcomas (malignant bone-forming tumors) are different pathological entities; however, sometimes they share strikingly similar clinical, radiological, and histological features. Osteosarcomas, as a whole, affect the same age group as ABC. Symptoms often are the same, and the long bones are predominantly affected.9 Especially the radiographic features of telangiectatic osteosarcoma in its early stages may mimic a benign process, such as primary ABC,9,15 hence, the synonym ‘‘ABC-like osteosarcoma.13,14 The occurrence of these two entities in the calcaneus is rare with less than 1% for osteosarcomas14 and three in a series of 135 patients (136 locations) with ABC.11 While the treatment for osteosarcomas is well established, with biopsy followed by chemotherapy and a wide or radical resection, the optimal treatment for primary ABC is controversial. Treatment with percutaneous sclerotherapy (Ethibloc injection) has been reported in patients with suspected ABC without histological diagnosis.5 These authors stated that histological examination was not mandatory if the clinical presentation and radiographic features are characteristic for an ABC. Between January, 1998, and January, 2003, 135 patients with benign and 83 patients with malignant primary bone tumors, including 21 patients diagnosed

Microcystic/reticular schwannoma of the pancreas: A potential diagnostic pitfall

Schwannomas occurring in the pancreatic head are rare benign non‐recurring mesenchymal neoplasms and are reported to show classic morphologic features. Herein we report a case of a 62 year old male presenting with a 5 cm mass in the pancreatic head encasing the portal vein and the truncus coeliacus. Preoperative fine needle aspiration revealed malignant tumour cells consistent with a moderately differentiated adenocarcinoma. A Whipple surgery was performed after palliative chemotherapy. Histological evaluation revealed a multinodular unencapsulated tumour with focal infiltration into pancreas parenchyma and a striking microcystic/reticular growth pattern. Anastomosing and intersecting strands of spindle cells with eosinophilic cytoplasm set in a myxoid partly collagenous stroma were observed. The tumour cell nuclei were round oval and tapered and showed inconspicuous small nucleoli. Degenerative nuclear atypia was seen. Mitotic activity was sparse (1/50 HPF). Pleomorphism or necrosis was absent. The tumour cells showed strong nuclear and cytoplasmic positivity for S‐100 protein, and focal positivity for glial fibrillary acidic protein. The diagnosis of a microcystic/reticular schwannoma was made. The awareness of and, to some extent, the knowledge about this rare tumour are needed to achieve the correct diagnosis and to avoid confusion, especially with malignant pancreatic neoplasms.

Intraosseous epidermoid cysts of the hand skeleton: a series of eight patients

This paper reviews the clinical and radiographic features and treatment results in eight patients with intraosseous epidermoid cysts in the terminal phalanx of a finger seen over a period of 26 years. Data on age, sex, occupation, diagnostic findings, history of injury in six cases, treatment and follow-up were obtained by reviewing medical records and the histopathological findings using the hospital database. The most frequent symptoms of pressure pain, tenderness, redness and swelling occurred at a median time of 12 years after trauma. Male patients were mainly affected (7:1). In four the intraosseous epidermoid cysts were confused with other osteolytic diseases before surgery. Magnetic resonance imaging is recommended in any case of an osteolytic, expanding lesion, particularly in cases that are clinically and radiologically not obviously an intraosseous epidermoid cyst.

Disappearance of a cervical spine chordoma after nonoperative treatment. A case report.

C hordoma is a low-grade to intermediate-grade malignant bone tumor that arises from remnants of the embryonal notochord1. The tumor is characterized by slow growth, thus resulting in a relatively long history of symptoms related to it2. The generally accepted treatment of choice for a chordoma is en bloc excision2. However, a chordoma often may have a very late recurrence2. In this report, we present the case of a patient who had a tumor that disappeared without surgical excision or local radiation therapy. We are not aware of a report on a chordoma that has demonstrated a similar behavior. Our patient was informed that data concerning the case would be submitted for publication. A twenty-four-year-old man began having neck pain in the summer of 2002. He had no history of a fall or trauma. The symptoms progressed, and he had episodes of paresthesias in both hands and the chest. Later, urinary and bowel dysfunction occurred. A neurological examination at a local hospital revealed hyperreflexia of the upper and lower extremities. Computed tomography scans of the head showed no abnormality. Subsequently, a computed tomography scan and magnetic resonance imaging study of the cervical spine demonstrated a large tumor (2.5 × 2 × 4 cm) in the second cervical vertebra as well as bone destruction and local calcification resulting in severe spinal stenosis (Figs. 1-A and 1-B). The findings on the routine laboratory tests were normal. Because of the neurological symptoms, the patient was managed with intravenous administration of dexamethasone. A computed tomography-guided needle biopsy of the tumor was performed in November 2002, but no representative tissue was obtained. A specimen obtained from a second closed biopsy with use of a trephine needle also showed no signs of a tumor. An open biopsy from …

Pathologic fracture of the distal humerus due to a textiloma

Textiloma, also known as gossypiboma, is defined as a tumor-simulating process composed of cotton matrix or synthetic fibers surrounded by granulomatous reactions resulting from retained surgical gauzes. Forgotten surgical material, despite precautions taken, is well described in the literature. The global occurrence is estimated to be between 1 in 1000 and 1 in 10,000 interventions. Most of the cases result from abdominal surgery (52%) and gynecologic surgery (22%). The most common localization of textilomas is in the abdomen, with 75%, whereas only 6% occur in the extremities. Reports of textilomas after musculoskeletal surgical procedures in the upper extremity are rare. The cotton matrix or synthetic fibers of a retained surgical gauze are not absorbable. The human body reacts to a retained surgical gauze in 2 ways, either (1) exudative, with abscess formation, or (2) with an aseptic fibrous inflammatory response, producing adhesions and encapsulation. The clinical presentation can be either acute or delayed. Because of secondary superinfections and sepsis or formation of fistulas, the exudative form manifests earlier clinically. The delayed form appears after 2 or more years and is usually a tumorous mass. In a few cases, patients stay asymptomatic for many years and the textiloma is discovered incidentally. Because of the polymorphism and the presumptive malignant degeneration, the diagnosis can be very challenging and investigations such as computed tomography (CT) and magnetic resonance imaging (MRI), which do not always give reliable diagnoses, are often performed. A textiloma could be misinterpreted as a chondrosarcoma, osteosarcoma, chronic expanding hematoma, or metastasis. Definitive diagnosis can only be made by histopathologic examination. Pathologic fracture due to a textiloma has been reported in only 2 patients so far, with the textiloma occurring in the thigh in both cases. We report a case of a pathologic fracture of the distal humerus due to a textiloma.

Effect of Laminin‐A4 inhibition on cluster formation of human osteoarthritic chondrocytes

Formation of chondrocyte clusters is not only a morphological sign of osteoarthritis but it is also observed in cell culture. Active locomotion of chondrocytes is controlled by integrins in vitro. Integrins bind to Laminin‐A4 (LAMA4), a protein that is highly expressed in vivo in clusters of hypertrophic chondrocytes. We tested if LAMA4 is relevant for cluster formation. Human chondrocytes were cultured in a 2D matrigel model and treated with different concentrations of a monoclonal inhibitory anti‐LAMA4‐antibody. Migration and cluster formation was analysed using live cell imaging technique. Full genome gene expression analysis was performed to assess the effect of LAMA4 inhibition. The data set were screened for genes relevant to cell motility. F‐actin staining was performed to document cytoskeletal changes. Anti‐LAMA4 treatment significantly reduced the rate of cluster formation in human chondrocytes. Cells changed their surface morphology and exhibited fewer protrusions. Expression of genes associated with cellular motility and migration was affected by anti‐LAMA4 treatment. LAMA4‐integrin signalling affects chondrocyte morphology and gene expression in vitro, thereby contributing to cluster formation in human osteoarthritic chondrocytes.