Immunohistochemical expression of WT1 by desmoplastic small round cell tumor: a comparative study with other small round cell tumors.

Desmoplastic small round cell tumors (DSRCTs) present a reciprocal chromosomal translocation, t(11;22)(p13;q12), that results in fusion of Ewing's sarcoma and Wilms' tumor (WT1) genes. The authors evaluated 15 DSRCTs and 71 other tumors often considered in the differential diagnosis for immunoreactivity using a polyclonal antibody directed against the WT1 part of the chimeric protein resulting from this translocation. WT1 immunostaining was performed on paraffin material using the WT(C-19) antibody after heat-antigen retrieval. All the DSRCTs (15 of 15, 100%) demonstrated strong WT1 nuclear immunoreactivity. Ten of 14 nephroblastomas (71%) disclosed WT1-positive nuclei in accordance with the staining reported by others, and rare and focal nuclear positivity was detected in two of 17 rhabdomyosarcomas. WT1 immunoreactivity was not observed in Ewing's sarcoma/primitive neuroectodermal tumors (zero of 21, 0%), neuroblastomas (zero of 17, 0%), or rhabdoid tumors of the kidney (zero of two, 0%). In nephroblastoma, differential diagnosis with DSRCT was not difficult: Clinical and morphologic data are not similar for these two entities. The current study validates WT1 immunoreactivity as a useful marker to separate DSRCT from other small round cell tumors.

Foreign body histiocytosis reaction after hip replacement with concomitant metastatic adenocarcinoma in the same lymph node.

Infiltration of regional lymph nodes by macrophages has been shown after total joint arthroplasty. These pelvic lymph nodes were obtained most often from patients during staging procedures for carcinoma and may be a diagnostic pitfall in the frozen section diagnosis of nodal metastasis. We report an unusual case of association in the same lymph node between histiocytosis and prostatic carcinoma metastasis. Histiocytosis was caused by wear debris from two different prostheses. Inductively coupled plasma mass spectrometry verified this diagnosis.

A malignant gastrointestinal stromal tumour in a patient with multiple endocrine neoplasia type 1.

Loss of heterozygosity for polymorphic markers flanking the multiple endocrine neoplasia type 1 (MEN-1) gene in parathyroid and pancreatic islet tumours from subjects with MEN-1 has been well documented and has led to the hypothesis that the MEN-1 gene functions as a recessive tumour suppressor gene. We report a case of MEN-1 with duodeno-pancreatic gastrinoma, parathyroid hyperplasia, pituitary adenoma, adrenal adenoma, and lipomas, whose rare association with a malignant gastrointestinal stromal tumour (GIST) represents an undescribed combination. MEN-1 mutation in this family was shown as a frameshift (1607delA) in exon 10. To assess the role of the MEN-1 gene in the pathogenesis of tumours less commonly associated with MEN-1, we studied GIST DNA for loss of the unaffected MEN-1 gene allele. Stromal tumour and peripheral leucocyte DNAs from our patient were examined for loss of heterozygosity using the PYGM microsatellite polymorphism and an intragenic polymorphism (D418D in exon 9) in the MEN-1 gene. We showed no evidence for loss of the wild-type MEN-1 allele in GIST. The MEN-1 germline inactivating mutation 1607delA-ter558 in exon 10 was detected in the stromal tumour DNA, but no somatic mutation in the wild-type MEN-1 allele in GIST DNA was detected. Occurrence of GIST could be consistent with the possibility that this MEN-1-related uncommon neoplasm arose independently by a mechanism unrelated to the MEN-1 gene.

Desmoplastic small round cell tumor: RT-PCR analysis and immunohistochemical detection of the Wilm's tumor gene WT1.

Desmoplastic small round cell tumor is an aggressive neoplasm first described in 1991. Recently, a reciprocal translocation t(11;22)(p13;q12) has been characterized by conventional cytogenetic studies and molecular analysis. This translocation involves the Ewing's sarcoma gene on chromosome 22 and the Wilms' tumor gene WT1 on chromosome 11. The chimeric transcript corresponding to the fusion gene could be detected by the reverse transcriptase-polymerase chain reaction (RT-PCR). Using an anti-WT1 antibody, the WT1 part of the putative chimeric protein could be recognized by immunohistochemistry. We describe two well-characterized cases of intraabdominal desmoplastic small round cell tumor in two male patients aged 14 and 28 with both RT-PCR analysis and immunostaining for WT1. In this report, we insist on the necessity to increase the RT-PCR analysis in DSRCT in order to obtain a precise differential diagnosis. In addition, WT1 immunostaining may serve as a useful diagnostic marker for DSRCT.

[Renal inflammatory pseudotumor manifesting as a prolonged fever]. / Fièvre prolongée révélatrice d'une pseudotumeur inflammatoire rénale.

INTRODUCTION: Inflammatory pseudo-tumors (IPT) are benign neoplasms associated with local or general manifestations. Renal localization seems exceptional, and no case of fever of unknown origin caused by renal inflammatory pseudo-tumors have been reported. EXEGESIS: The authors report the case of a man presenting fever of unknown origin and inflammatory syndrome. Computerized tomography showed a renal mass. Nephrectomy was performed, and renal inflammatory pseudo-tumor was diagnosed. After surgical exeresis, the clinical and biological abnormalities vanished. CONCLUSION: This rare diagnosis must be considered in these situations. The outcome is excellent.

[Neuropathologic data in drug-resistant partial epilepsy. Report of a series of 195 cases]. / Données neuropathologiques dans l'épilepsie partielle pharmacorésistante. Etude d'une série de 195 observations.

This report concerns the histopathological findings in 195 consecutive surgical specimens of patients with chronic drug-resistant epilepsy. Six pathological groups were identified corresponding to 63 tumors, 51 developmental lesions, 39 Ammon's horn sclerosis, 27 non specific changes, 11 glial or gliomesodermal scars and 4 Rasmussen's encephalitis. In 14 patients, 2 distinct abnormalities were observed with Ammon's horn sclerosis as one part of the dual pathology. All tumors were of low histopathological grade and included 30 dysembryoplastic neuroepithelial tumors, 17 gangliogliomas, 5 subependymal giant cell astrocytomas of tuberous sclerosis, 4 pleomorphic xanthoastrocytomas, 3 astroblastomas, 3 astrocytomas and 1 oligodendroglioma. Developmental lesions included 22 hamartomas, 12 focal dysplasias, 5 microdysgenesis, 1 nodular cortical heterotopia, 1 arachnoid cyst and 10 cavernomas. These findings emphasize two pathological features. Firstly, well-defined changes were present in all specimens. Secondly, the most common lesions were respectively tumors and developmental abnormalities.

[Liver transplantation with a graft taken from a heart transplant patient who was brain-dead]. / Transplantation hépatique avec un greffon prélevé chez un greffé cardiaque en état de mort cérébrale.

The shortage of organ donors has led to progressive softening of selection criteria for organ donation. We report on hepatic transplantation in a 55-year-old woman with primary biliary cirrhosis, whose donor was a 50-year-old heart transplant recipient who became brain stem dead, due to cerebral bleeding 8 months after transplantation. An orthotopic liver transplantation was performed. The postoperative course was uneventful and the recipient was alive and had normal liver function after a 42-month follow-up. Analysis of the literature included ethical consideration, potential hepatotoxic effects of immunosuppressive drugs and modification of the graft immunogenicity. It confirms that transplanted patients should not be a priori excluded from organ donation.

[Microscopic extensions of head and neck squamous cell carcinomas: impact for clinical target volume definition]. / Approche anatomopathologique de l'extension microscopique des carcinomes épidermoïdes ORL : implications pour la définition du volume cible anatomoclinique.

PURPOSE: To assess microscopic extensions of head and neck squamous cell carcinomas aiming at a proposal for target volumes of radiation therapy. MATERIALS AND METHODS: Surgical specimens were prospectively analysed macroscopically and microscopically. Tumour borders were identified per macroscopic visual examination and inked on stained slides. Then microscopic implants (perineural or lymphatic involvement, or in situ carcinomas) were looked for with an optic microscope in the macroscopic healthy tissue surrounding the tumour. The maximal length from tumour border was correlated with the maximal length of macroscopically healthy tissues assessable. RESULTS: Twenty-one specimens were analysed and 12 were locally advanced tumours. Mean and median maximal microscopic extensions were 2.9 and 1.0mm (0-15mm), respectively. The 90th and 95th percentiles were 5 and 11mm, respectively. The ratio between healthy tissue length and maximal microscopic tumour extension was 10%. No correlation was found with tumour grade or volume. CONCLUSION: The presence of microscopic tumour was unlikely after 5mm from macroscopic tumour (≤5% of patients in this series) but should be assessed along with other histoclinical factors and particularities of tumour behaviour by anatomic site. A rigorous terminology should authorize a relevant appreciation of local risk of recurrence, particularly in adjuvant setting or for clinical target volume definition. Larger and more homogenous confirmatory series are needed.

Histologic study of periprosthetic osteolytic lesions after AES total ankle replacement. A 22 case series.

INTRODUCTION: Medium-term results for total ankle replacement (TAR) are in general satisfactory, but there is a high redo rate for periprosthetic osteolysis associated with the AES implant. HYPOTHESIS: Comparing radioclinical findings and histologic analysis of implant revision procedure specimens can account for the elevated rate of osteolysis associated with the AES TAR implant. MATERIAL AND METHOD: In a prospective series of 84 AES TAR implants (2003-2008), 25 underwent revision for osteolysis (including three undergoing revision twice) at a mean 59.8 months. Eight patients had hydroxyapatite (HA) coated models and the others had titanium-hydroxyapatite (Ti-HA) coatings. Radiographs were systematically analyzed on Besse's protocol and evolution was monitored on AOFAS scores. The 94 specimens taken for histologic analysis during revision were re-examined, focusing specifically on foreign bodies. RESULTS: Macroscopically, no metallosis or polyethylene wear was found at revision. AOFAS global and pain scores fell respectively from 89.7/100 at 1 year postoperatively to 72.9 before revision and from 32.5/40 to 20.6/40, although global scores were unchanged in 25% of patients. Radiologically, all patients showed tibial and talar osteolytic lesions, 45% showed cortical lysis and in 25% the implant had collapsed into the cysts. All specimens showed macrophagic granulomatous inflammatory reactions in contact with a foreign body; the cysts showed necrotic remodeling. Some of the foreign bodies could be identified on optical histologic examination with polyethylene in 95% of the specimens and metal in 60% (100% of HA-coated models and 33.3% of Ti-HA-coated models). Unidentifiable material was associated: a brownish pigment in Ti-HA-coated models (33.3%) and flakey bodies in 44.4% of the HA-coated models and 18.2% of the Ti-HA-coated models. DISCUSSION: The phenomenon of periprosthetic osteolysis is still poorly understood, although implant wear debris seems to be implicated. All the patients with HA-coated implants with modular tibial stem had metal particles in the tissue around the implant, although their exact nature could not be determined. The double-layer Ti-HA coating may induce delamination by fretting while the biological bone anchorage is forming. LEVEL OF EVIDENCE: Prospective cohort study - Level IV.

[Solitary fibrous tumor of the orbit: Possibly recurrent in the long-run]. / Les tumeurs fibreuses solitaires de l'orbite : une entité pouvant récidiver à long terme.

Solitary fibrous tumor (SFT) is a rare etiology of progressive unilateral exophthalmia. The tumor is of mesenchymal origin and it is usually well defined. But recurrences can occur despite of complete surgical resection. Metastases have been observed. Tumors of the SFT spectrum are considered as benign or low-grade malignant. Histological features do not currently allow any prognosis. The most important prognostic factor is complete surgical resection. Craniofacial approaches provide a good view of the tumor extensions and orbital contents. Recurrent tumors must be surgically removed when possible. Complementary treatments have not proved effective. A very long-term follow-up is mandatory.

Synovial sarcoma of the lateral pharyngeal wall.

OBJECTIVE: The present study describes the clinical, radiological and histological features of pharyngeal synovial sarcoma, on the basis of one clinical case, and discusses management. CASE STUDY: A male patient, aged 27 years, presented with synovial sarcoma of the lateral pharyngeal wall, revealed by pharyngeal discomfort and bloody sputum. CT and MRI showed a partially necrotic tumoral process centered on the upper half of the piriform sinus. Pathologic analysis found a malignant biphasic tumor, suggestive of synovial sarcoma. Partial pharyngolaryngectomy was performed on a lateral approach, with associated radiotherapy. DISCUSSION: Synovial sarcoma raises diagnostic and therapeutic issues. Prognostic factors are not clearly established. CONCLUSION: Pharyngeal synovial sarcoma is a rare tumor. Treatment is essentially surgical, requiring wide margins; radiotherapy is usually associated. The value of chemotherapy has yet to be assessed.

Localized nasopharyngeal amyloidosis.

OBJECTIVES: To illustrate, via a case report, how a differential diagnosis of amyloidosis is to be suspected in case of a nasopharyngeal mass. CASE REPORT: A 59-year-old woman presented with bilateral nasal obstruction with associated episodic tubal dysfunction. Physical examination found a mass occupying the entire nasopharynx, initially suggestive of tumor. DISCUSSION: Amyloidosis was diagnosed on histopathologic study of the biopsy and surgical specimens. Exploration for systemic disease proved negative. The localized amyloidosis was managed conservatively. At 9 months' follow-up, there was no recurrence. CONCLUSION: Localized amyloidosis, however rare, should be considered as differential diagnosis in any case of nasal obstruction with tubal dysfunction, even if bilateral. ENT physicians need to recognize and understand this pathology for adapted diagnostic and treatment planning.

A pancreatic metastasis from a colon cancer.

Pancreatic metastases from colorectal cancer are extremely rare. We report the case of a 74-years-old patient presented with a metachronous pancreatic metastasis, which was treated by segmental pancreatectomy. After reviewing literature, diagnosis and management of pancreatic metastasis from colorectal carcinoma are discussed.

Sclerosing polycystic adenosis of the parotid gland: diagnosis and management.

OBJECTIVE: To describe diagnostic and therapeutic management of a rare parotid lesion: sclerosing polycystic adenosis. PATIENT AND METHOD: We report a case of persistent right intraparotid tumefaction. RESULTS: A 68-year-old man was referred with a right parotid nodule of 2 years' evolution. Cytology diagnosed pleomorphic adenoma, verified on MRI. Conservative subtotal parotidectomy diagnosed sclerosing polycystic adenosis. Over 1 year's regular follow-up, there were no signs of local recurrence. CONCLUSION: Sclerosing polycystic adenosis of the parotid gland is a rare and recently described entity presenting several analogies to the much more frequent cystic mastitis. Although benign and well-delimited, it requires complete exeresis of the parotid, due to a non-negligible risk of recurrence.