Well-differentiated extraskeletal chondrosarcoma: about a new case.

Extraskeletal chondrosarcoma is a rare malignant tumor. The well differentiated histological type, which is found primary in soft tissue, is extremely rare. This report  describes the case of a 58-year-old woman presented with a large palpable mass in the right buttock. Imaging studies revealed a well-defined soft tissue mass, with extensive calcification. A histological examination after surgical resection confirmed the diagnosis of well-differentiated extraosseous chondrosarcoma. The outcome was favorable, without recurrence or metastasis.

An unusual tumour of the lung.

We report a case of a 51-year-old woman with a solitary mast cell tumour of the lung, a rare neoplasm with only three previously-reported cases reported in the literature. Unlike previous cases, the tumour in the present case was bulky, measuring 14 cm in diameter and budding into the segmental bronchus. Histologically, it showed proliferation of typical metachromatic mast cells intermingled with undifferentiated cells with a ratio of 3:1. The neoplastic mast cells stained strongly with tryptase, CD117, CD68 and CD45, CD14 and CD33; whereas the undifferentiated cells lacked all these markers and expressed EMA and cytokeratin. Histological examination of bone marrow and laboratory data were unremarkable. To our knowledge, this is the fourth case of solitary extracutaneous mastocytoma of the lung. The differentiating features of this neoplasm and a review of literature are presented.

[Schimmelpenning-Feuerstein-Mims syndrome: a case report]. / Le syndrome de Schimmelpenning-Feuerstein-Mims: à propos d'un cas.

Schimmelpenning-Feuerstein-Mims syndrome (SFM) is a congenital neurocutaneous disorder characterized by the association of nevus sebaceous with extracutaneous abnormalities. We report a new case of Schimmelpenning-Feuerstein-Mims with aortic coarctation and drug-resistant West syndrome. This case emphasizes the importance of exploring and monitoring patients with nevus sebaceous in order to diagnose associated anomalies.

Uterine tumour resembling ovarian sex cord tumours presenting as multiple endometrial and cervical uterine polyps: a case report.

BACKGROUND: Uterine tumours resembling ovarian sex-cord tumours (UTROSCT) are very rare, benign uterine tumours, composed solely of sex cord elements. These tumours have a polyphenotypic immunophentype that favours a derivation from uterine mesenchymal stem cells. CASE REPORT: A 43-year-old female presented with recurrent vaginal bleeding. On hysteroscopy, she had multiple endometrial and cervical polyps that were removed endoscopically. Histologically, the specimen contained epithelioid cells arranged in tubules, trabeculae and anastomosing cords, without significant cellular atypia or mitotic activity. Immunohistochemical studies were performed. The tumour was found to be diffusely positive for vimentin, calretinin and desmin, focally positive for cytokeratin, CD99 and inhibin and negative for chromogranin and CD10. A subsequent total hysterectomy was performed and revealed neoplastic infiltration of the myometrium. CONCLUSION: A polyphenotypic immunophenotype is a characteristic feature of UTROSCT, and may be helpful in diagnosis and in exclusion of other lesions. Familiarity with this tumour by gynaecologists and pathologists is essential to avoid misdiagnosis:correct diagnosis of this neoplasm is important in patient management.

BK virus-associated hemophagocytic syndrome in a renal transplant recipient.

Hemophagocytic syndrome (HPS) is a life-threatening hematological disorder in immunocompromised patients. Reactive HPS is observed in patients with systemic infection, neoplasia or auto-immune diseases. It is a rare hematological disorder after renal transplantation and must be suspected when fever and pancytopenia are seen in association with viral infections. HPS is usually associated with infection with the Cytomegalovirus and Epstein-Barr viruses. We report here a case of BK-virus-associated HPS.

Secondary oxalosis due to excess vitamin C intake: a cause of graft loss in a renal transplant recipient.

Renal oxalate deposition can be seen with primary hyperoxaluria, malabsorptive states, ethylene glycol toxicity and, rarely, with excessive vitamin C ingestion. We report a case of secondary hyperoxaluria in which the diagnosis was not considered initially because there was no past history of urinary calculi and no evidence of nephrocalcinosis on plain X-ray of the abdomen and ultrasonography. The disease was detected and diagnosed only after kidney transplantation. Secondary oxalosis can cause graft loss or delayed graft function. Biopsy of the allograft should be carefully examined for oxalate deposits even in the absence of a family history. When oxalosis is diagnosed, intensifying hemodialysis (HD) to eliminate calcium oxalate can help in the recovery of renal function in some cases. Systematic vitamin C supplementation in HD patients should be avoided as it can be a cause of secondary oxalosis.

Wnt signaling is involved in human articular chondrocyte de-differentiation in vitro.

Osteoarthritis is the most prevalent form of arthritis in the world. Certain signaling pathways, such as the wnt pathway, are involved in cartilage pathology. Osteoarthritic chondrocytes undergo morphological and biochemical changes that lead to chondrocyte de-differentiation. We investigated whether the Wnt pathway is involved in de-differentiation of human articular chondrocytes in vitro. Human articular chondrocytes were cultured for four passages in the presence or absence of IL-1 in monolayer or micromass culture. Changes in cell morphology were monitored by light microscopy. Protein and gene expression of chondrocyte markers and Wnt pathway components were determined by Western blotting and qPCR after culture. After culturing for four passages, chondrocytes exhibited a fibroblast-like morphology. Collagen type II and aggrecan protein and gene expression decreased, while collagen type I, matrix metalloproteinase 13, and nitric oxide synthase expressions increased. Wnt molecule expression profiles changed; Wnt5a protein expression, the Wnt target gene, c-jun, and in Wnt pathway regulator, sFRP4 increased. Treatment with IL-1 caused chondrocyte morphology to become more filament-like. This change in morphology was accompanied by extinction of col II expression and increased col I, MMP13 and eNOS expression. Changes in expression of the Wnt pathway components also were observed. Wnt7a decreased significantly, while Wnt5a, LRP5, ß-catenin and c-jun expressions increased. Culture of human articular chondrocytes with or without IL-1 not only induced chondrocyte de-differentiation, but also changed the expression profiles of Wnt components, which suggests that the Wnt pathway is involved in chondrocyte de-differentiation in vitro.

The roles of canonical and non-canonical Wnt signaling in human de-differentiated articular chondrocytes.

Osteoarthritis is the most prevalent form of arthritis in the world and it is becoming a major public health problem. Osteoarthritic chondrocytes undergo morphological and biochemical changes that lead to de-differentiation. The involvement of signaling pathways, such as the Wnt pathway, during cartilage pathology has been reported. Wnt signaling regulates critical biological processes. Wnt signals are transduced through at least three intracellular signaling pathways including the canonical Wnt/ß-catenin pathway, the Wnt/Ca2 + pathway and the Wnt/planar cell polarity pathway. We investigated the involvement of the Wnt canonical and non-canonical pathways in human articular chondrocyte de-differentiation in vitro. Human articular chondrocytes were cultured through four passages with no treatment, or with sFRP3 treatment, an inhibitor of Wnt pathways, or with DKK1 treatment, an inhibitor of the canonical pathway. Chondrocyte-secreted markers and Wnt pathway components were analyzed using western blotting and qPCR. Inhibition of the Wnt pathway showed that the canonical Wnt signaling probably is responsible for inhibition of collagen II expression, activation of metalloproteinase 13 expression and regulation of Wnt7a and c-jun expression during chondrocyte de-differentiation in vitro. Our results also suggest that expressions of eNOS, Wnt5a and cyclinE1 are regulated by non-canonical Wnt signaling.

Lymphoma presenting as a peritonsillar abscess.

INTRODUCTION: Peritonsillar abscess is generally seen as a complication of acute tonsillitis in young subjects. It may, however, in rare cases reveal a malignant tumor of the tonsil: most often squamous cell carcinoma or, more rarely, lymphoma. We report a rare case of tonsillar lymphoma revealed by a peritonsillar abscess. CASE REPORT: A 66-year-old woman, without history of recurrent tonsillitis, was admitted for right peritonsillar abscess with fever. She underwent incision-drainage of the abscess with 10 days' intravenous antibiotics. As tonsillar hypertrophy persisted, tonsillectomy was performed; histology with immunohistochemical examination found tonsillar lymphoma. DISCUSSION/CONCLUSION: Possible tumoral etiology should be considered in any peritonsillar abscess occurring in an atypical subject. Acute-stage tonsillectomy enables early diagnosis.

[A long survival after the treatment of a squamous cell carcinoma of the gallbladder]. / Une longue survie après traitement d'un carcinome épidermoïde de la vésicule biliaire.

We report the case of a long survival after the treatment of a squamous cell carcinoma of the gallbladder. The patient is a 58-year-old man, who was treated by cholecystectomy, followed by postoperative radiotherapy of the tumour bed at a dose of 45Gy, combined with 5-fluoro-uracil chemotherapy. After 18 years, the patient is alive in complete remission. The end point of this work was to study the clinical and therapeutic characteristics of squamous cell carcinoma of the gallbladder and its prognosis through this case and a review of literature.

Circulating antimyenteric autoantibodies in Tunisian patients with idiopathic achalasia.

The physiopathology of idiopathic achalasia is still unknown. The description of circulating antimyenteric autoantibodies (CAA), directed against enteric neurons in sera of patients, suggests an autoimmune process. Recent data showed controversies according to the existence and the significance of CAA. The aims of this study were to investigate whether CAA are detected in Tunisian patients with idiopathic achalasia and to look for associated clinical or manometrical factors with CAA positivity. Twenty-seven patients with idiopathic achalasia and 57 healthy controls were prospectively studied. CAA were assessed by indirect immunofluorescence on intestinal monkey tissue sections. Western blot on primate cerebellum protein extract and dot technique with highly purified recombinant neuronal antigens (Hu, Ri, and Yo) were further used to analyze target antigens of CAA. CAA were significantly increased in achalasia patients compared with controls when considering nuclear or cytoplasmic fluorescence patterns. (33% vs. 12%, P = 0.03 and 48% vs. 23%, P = 0.001 respectively). By immunoblot analysis, CAA did not target neuronal antigens, however 52/53 and 49 kDa bands were consistently detected. CAA positivity was not correlated to specific clinical features. The results are along with previous studies demonstrating high CAA prevalence in achalasia patients. When reviewing technical protocols and interpretation criteria, several discrepancies which could explain controversies between studies were noted.

[Antisynthetase syndrome: a report of four cases and literature review]. / Le syndrome des antisynthétases : à propos de quatre observations et revue de la littérature.

The antisynthetase syndrome (ASS) includes inflammatory myopathy (polymyositis or dermatomyositis), interstitial lung disease (ILD), arthritis, Raynaud's phenomenon, and mechanic's hands, associated with antibodies against aminoacyl-tRNA-synthetases, the most well-recognized being the anti-Jo1 antibody (anti-histidyl-tRNAsynthetase). We report four cases of antisynthetase syndrome and review the clinical characteristics and prognosis factors dominated by ILD. We report the cases of four women with a mean age of 42 years (28-62 years). The interstitial lung disease was found in four cases and was objectified by CT-scan in all cases. The pulmonary symptoms were consisted of dyspnea (one case) and respiratory distress (one case). The anti-Jo1 antibodies were present in the four patients. The myopathy was concomitant with pulmonary involvement (two cases), preceded it in 6 months (one case) and in the course of evolution and after 1 month (one case). All patients received corticosteroid treatment. The immunosuppressive treatment was necessary for two patients because of the severity of the pulmonary involvement. The outcome was favorable in two patients, partially favorable in a patient who presented pulmonary fibrosis. However, one patient died after developing brain abscesses.

[Hamartoma of the palate: case report and review of literature]. / Hamartome du palais: à propos d'un cas avec revue de la littérature.

INTRODUCTION: A hamartoma is a benign tumor-like malformation, often taking the form of vascular malformation such as hemangiomas and lymphangiomas; hamartoma composed of other tissue types are much rarer in the oral cavity, exceptionally reported in the palate. We report herein a new case of palatal hamartoma. Our aim is to describe the epidemiological, clinico-pathologic and therapeutic features of this lesion. OBSERVATION: A 53-years-old woman had a painless mass located on the right hard palate, measuring 2×1.5 cm of diameter, the mass was elastic with a smooth surface. On imaging, this mass was well-circumscribed, homogenous with moderate enhancement and thinning of the bone. A surgical excision was performed. Histological examination showed an ill-defined mass composed of hyperplasic salivary gland, nerve fibers, blood vessels and adipose tissue. According to these findings, the palatal lesion was interpreted as hamartoma. CONCLUSION: The palatal hamartoma can mimic clinically a malign neoplasm; its diagnosis is histological. Its treatment is essentially surgical. The prognosis is usually favorable without recurrence.

[Clinical, radiographic and biologic particularities of ankylosing spondylitis in Tunisian patients according to the presence or the absence of the HLA B27 and its sub-types]. / Particularités cliniques, radiologiques et biologiques de la spondylarthrite ankylosante en Tunisie selon la présence ou l'absence du HLA B27 et de ses sous-types.

To assess the clinical, radiographic and biologic particularities of ankylosing spondylitis (AS) in Tunisian patients according to HLA B27 and its sub-types statute. This was a case-control study that included 100 patients (85 males/15 females) with AS according to the modified New York criteria. Demographic, clinical, AS specific indexes, radiographic and biologic parameters were determined. HLA-B and B27 subtypes typing of all subjects were performed by PCR-SSP. Patients mean age was 38.4 years +/- 12.6 HLA-B27 was found in 62% of patients. The comparison of B27 positive and B27 negative patients revealed a correlation of B27 with age, male gender, family history of spondylarthropathies, age at disease onset, acute onset of the disease, inaugural spinal involvement, uveitis, bilateral and destructive hip arthritis as well as a high score of mSASSS. The most frequent sub-types of HLA B27 were B*2702 (49.2%) and B*2705 (36.3%). No significant difference of the clinical presentation of the disease or severity factors was found among these patients. This study confirmed the contribution of the HLA B27 to the determination of the clinical presentation of AS. The variability of factors linked to B27 may be explained by the polygenic model of the disease.

Rubella associated with hemophagocytic syndrome. First report in a male and review of the literature.

A 22-year-old man was admitted to our hospital because of fever, skin rash and epistaxis. Physical examination revealed fever (39.5°C), generalized purpura, lymphadenopathy and splenomegaly. Blood tests showed pancytopenia. Bone marrow aspiration and biopsy showed hemophagocytosis with no evidence of malignant cells. Anti rubella IgM antibody were positive and the IgG titers increased from 16 to 50 UI/mL in 3 days. Therefore, he was diagnosed to have rubella-associated hemophagocytic syndrome. We report herein the first case in a man and the sixth case of rubella-associated hemophagocytic syndrome in the literature by search in Pub Med till March 2012.

[Extramedullary plasmocytomas]. / Plasmocytomes extraosseux.

PURPOSE: To study the localization, treatment and prognosis of extramedullary plasmocytoma through a series of eight patients and a literature review. PATIENTS AND METHODS: Eight patients with extramedullary plasmocytoma were treated in the university's hospital of Sfax in Tunisia. The average age was 57.3 years. Female represented 75% of patients. The diagnosis of plasmocytoma was based on anatomo-pathology and immunohistochemistry of a biopsy or resected tumour. Extramedullary location was confirmed if biological and radiological exams and medullary biopsy were normal. The therapeutic decision was made after multidisciplinary meetings regarding tumour location and anterior treatment. RESULTS: Solitary extramedullary plasmocytoma was located in nasal cavity, cervical node, testis, ovary, bladder and the tongue. One patient was treated for three simultaneous locations of extramedullary plamocytoma (node, bowel, pleura) without evidence of myeloma. Radiotherapy was proposed in six cases but refused in one case (plasmocytoma of the bladder is currently receiving radiotherapy). Treatment consisted in chemotherapy in two cases. Evaluation after treatment revealed complete remission in 86% of the cases. Nodal recurrence was noted in two cases. These two patients were lost to follow up. The five other patients were in complete remission after a mean follow up of 5.7 years. No local recurrence or myeloma was noted. CONCLUSION: Extramedullary plasmocytoma is a rare affection. It can occur in any region of the body. Head and neck is most frequent localization. The treatment is irradiation or surgery in some localization. Progression to myeloma is the most important factor that influences the prognosis of the disease.

Expression patterns of Notch receptors and their ligands in human osteoarthritic and healthy articular cartilage.

Notch pathway plays a pivotal role in cell fate determination. There is much interest surrounding its therapeutic potential, in osteoarthritis, but the expression profile of Notch-related molecules, as well as their relation with cartilage pathological parameters, remains unclear. The purpose of our study is to analyze the expression pattern of Notch family members, type II and type I collagen, in normal (healthy) and osteoarthritic human knee cartilage. Osteoarthritic cartilages were obtained from 3 patients undergoing a total knee replacement. Macroscopically normal cartilage was dissected from 3 human knees at the time of autopsy or surgery. Immunohistochemical staining was performed using Notch1,2,3 and 4, Delta, Jagged, type II collagen and type I collagen antibodies. In healthy cartilage, type II collagen was abundantly expressed while type I was absent. This latter increased proportionally to the osteoarthritic grade. Type II collagen expression remained intense in osteoarthritic cartilage. In healthy cartilage as well as in cartilage with minor lesions, Notch family member's proteins were not or just weakly expressed at the surface and in the cells. However, Notch molecules were over-expressed in osteoarthritic cartilage compared to healthy one. This expression pattern was different according to the cartilage zone and the severity of OA. Our data suggest that Notch signaling is activated in osteoarthritic cartilage, compared to healthy cartilage, with a much more abundant expression in the most damaged areas.

[Ovarian metastasis from bronchial carcinoma]. / Métastase ovarienne d'un carcinome bronchique.

INTRODUCTION: The ovary, being a richly vascular organ, may receive metastases from numerous tissues, particularly of gynecologic origin. Extragenital cancers are dominated by gastro-intestinal and breast tumors. The lung is exceptionally described as a primary site of ovarian metastasis. CASE REPORT: We report a 28-year-old woman who was found to have a right perihilar opacity. The diagnosis of small cell bronchial carcinoma was made by bronchial biopsy. A right-sided uterine mass was also identified. This was resected and histopathology identified it as an ovarian metastasis from the pulmonary tumor. CONCLUSION: We report, through this case, and present a review of the literature on ovarian metastasis originating from bronchopulmonary neoplasms.

[Hereditary complement deficiency in Tunisian adults with purulent meningitis]. / Le déficit héréditaire en complément au cours des méningites purulentes de l'adulte en Tunisie.

Inherited complement deficiency is a rare disease. It predisposes to autoimmune diseases, glomerulonephritis, angioedema, and meningococcal meningitis. A prospective study was conducted over five years. The goal was to evaluate the prevalence of deficiency in Tunisian patients presenting with community acquired purulent meningitis and identify the type of deficiency. We enrolled 122 patients, 15 of whom presented with a complement deficiency (12.3%). This prevalence was higher than the one observed in the global Tunisian population and in reported international data. The mean age of deficient patients (13 men and two women) was 24.7 years.