Identification of G2607A mutation in EGFR gene with a significative rate in Moroccan patients with Bladder Cancer.

The epidermal growth factor receptor (EGFR) is involved in the regulation of several cellular processes and in the development of many human cancers. Somatic mutations of EGFR at tyrosine kinase domain have been associated with clinical response to tyrosine kinase inhibitors (TKIs) in lung cancer patients. In this study, we evaluated the frequency of point mutations in EGFR for future use of TKI in clinical treatment of bladder cancer. A total, 50 Moroccan patient specimens with bladder cancer and 48 healthy controls were analysed for EGFR mutations in the region delimiting exons 18-21 by PCR amplification and direct sequencing. Our results showed the absence of mutations in the EGFR kinase domain in these exons in all analysed specimens. However, sequence analysis of the EGFR-TK domain, revealed the presence of (G2607A) polymorphism at exon 20. Statistical analysis showed significant difference in the frequencies of G2607A polymorphism between cancer cases and healthy controls (p=0.0001) and the frequencies of the GG and GA/AA genotypes among the cancer cases were 28% and 72%, respectively. Moreover, allelic frequencies of G2607A polymorphism showed significant difference between cancer cases and healthy controls (p=0.0025). Data analysis showed no significant association between G2607A polymorphism and patients' age, clinical stage and tumor grade (p > 0.05). However, a significant difference was found between this polymorphism and patients' sex that could be a sampling bias due to the very limited number of women with bladder cancer. Our findings highlight that, mutations in EGFR kinase domain is a rare event in bladder cancer, suggesting, that treatment of bladder cancer patients with TKI may not be effective. However, the EGFR G2607A polymorphism in exon 20 is frequent in bladder cancer cases and must be further explored for its relevance in the treatment of this disease.

Bacteriological features of infectious spondylodiscitis at Mohammed V Military Teaching Hospital of Rabat.

To review the bacteriological features of infectious spondylodiscitis and provide recommendations for the initial therapy which remains empirical in our context. Retrospective study including patients diagnosed with spondylodiscitis over a period of 4 years (2006-2009) at the Rabat Military Teaching Hospital. During the study period, we analysed 30 cases: the mean age was 49.9 years and 21 cases (70%) were male. The patients were predominantly hospitalized in neurosurgery department (15/30) followed by rheumatology department (10/30). The site of infection was lumbar in 21 cases (21/30), dorsal in 7 cases (7/30). 26 cultures were positive of which 19 (19/26) were monomicrobial. Tuberculosis (TB) was implicated in 10 cases (10/30) including 4 cases in association with common organisms (Propionibacterium acnes, Staphylococcus aureus, Staphylococcus epidermidis, Corynebacterium species). Brucella melitensis was isolated in 1 case. Infections caused by pyogenic bacteria were isolated in 15 cases of which 12 (12/15) revealed simple organisms including Gram-positive cocci in 9 cases (9/12) with 3 cases of S. aureus and Gram-negative bacilli in 3 cases (3/12) with 2 cases of P. aeruginosa. Blood cultures carried out for 16 patients were positive in 7 cases. The anatomopathologic exams carried out for 20 patients found in 6 cases epithelioid granulomata and giants cells with caseous necrosis in total concordance with TB culture. TB is the most frequent cause of spondylodiscitis in Morocco. Our study found the same frequency for non-specific and specific germs. Empirical treatment must take into account S. aureus and M. tuberculosis.

[Erysipelas of the face revealing a mucormycosis]. / Érysipèle de la face révélant une mucormycose.

BACKGROUND: Mucormycosis is an opportunistic fungal infection, typically affecting immunocompromised patients. Rhino-orbital location is the most frequent form with cerebral blood vessels invasion and a fatal outcome. CASE REPORT: An immunocompetent 38-year-old woman, with previous history of primary cutaneous mucormycosis, was admitted for a febrile erythemato-oedematous lesion of the face with well-demarcated edge evoking erysipelas. No cutaneous portal of entry was identified. Oral cavity examination found an ulceronecrotic lesion of the hard palate. Diagnosis of mucormycosis was retained after nasal endoscopy and histological findings. The patient was first treated for erysipelas, then by ascending dose of intravenous amphotericin B. A good outcome was observed despite the occurrence of nephrotoxicity which normalized by alkaline hyperhydratation. Healing was obtained after 1month of effective dose leaving cleft palate sequelae. DISCUSSION: Mucormycosis occurs rarely in immunocompetent, even more if it is a second episode. Affecting the face, it may simulate or be revealed by superficial skin infection. Within that, a meticulous otorhinolaryngeal examination is required when the portal of entry is not obvious.

[Nasoethmoidal psammomatoid cemento-ossifiying fibroma with intraorbital extension]. / Fibrome cémento-ossifiant psammomateux nasoéthmoïdal à extension orbitaire.

INTRODUCTION: Psammomatoid cemento-ossifying fibroma (PCOF) is a rare benign fibro-osseous lesion. It affects the maxilla, the nasal cavity, paranasal sinuses, and the ethmoid. It is slow-growing, progressive, and benign but it can be locally extended and mimic a malignant tumor. OBSERVATION: We report the unusual case of a 36-year-old woman with a nasal and ethmoid PCOF with orbital and endocranial extension. The tumor was revealed by exophthalmia and nasal obstruction. The diagnosis was proven histologicaly on biopsies. The treatment was transfacial surgery. There was no recurrence 1 year later. DISCUSSION: Intraorbital and endocranial extension of PCOF are rare aggressive behaviours. Histologically, the differential diagnosis is difficult between fibrous dysplasia or psammomatoid meningioma. Complete surgical excision is necessary to prevent recurrence.

[Papillary carcinoma in a thyroglossal duct cyst, a case report: Which management]. / Carcinome papillaire sur kyste du tractus thyréoglosse à propos d'un cas : quelle prise en charge ?

Cysts of the thyroglossal duct are common but malignant degeneration is rare, occurring only in 1% of the cases. The most frequent histological type is papillary carcinoma. The clinical presentation of these cancers is generally nonspecific, diagnosis being established postoperatively using the Sistrunk method. Debate remains open concerning appropriate management strategies and post-therapeutic follow-up for this type of neoplasia. We report the case of a 45-year-old patient who underwent surgery for an anterior neck mass that had developed over three years. Histology favored multifocal papillary carcinoma in a thyroglossal duct remant. Total thyroidectomy was performed. The postoperative protocol, established empirically due to the absence of consensus, included radioactive iodine and hormone suppression even though the thyroid was intact. After one year of follow-up, outcome has remained favorable.

Cystic schwannoma of the cauda equina mimicking hemangioblastoma.

Cystic schwannoma is highly unusual and intraspinal involvement seems to be even more rare. We report a case of intradural lumbar-cystic schwannoma in a 50-year-old man who presented with chronic low-back pain and sciatalgia, which were initially related to a bulging disc. Diagnosis of a tumor origin was suspected two years later on MRI as a hemangioblastoma. The lesion was histologically confirmed to be a schwannoma. Only eight cases of spinal schwannoma with large cyst have been previously reported. Cystic schwannoma should be considered in the differential diagnosis of lumbar intradural-cystic lesion.

[Orbital location of Kaposi's sarcoma]. / A propos d'une localisation orbitaire du sarcome de Kaposi.

Kaposi's sarcoma is a proliferative disease, probably induced by human herpes virus type 8 (HHV8). Its expression is cutaneous and visceral, with four clinical forms. An orbital location of Kaposi's sarcoma remains exceptional. In order to evaluate the epidemiological, clinical, and therapeutic objectives of this tumor location, we report a case of a 58-year-old patient hospitalized in the ophthalmology department for a surgically treated right orbital tumor.

[Gorlin-Goltz phacomatosis: ophthalmological aspects in one case]. / La phacomatose de Gorlin-Goltz: aspects ophtalmologiques.

We report the case of a 21-year-old girl who presented an eyelid tumor with retinal hamartoma. General examination revealed a basal cell nevus on the face, jaw cysts, skeletal malformations and brain calcifications. Histological examination of the eyelid lesion and of the skin nevus showed basal cell carcinoma. Familial investigation evidenced the hereditary nature of this disease. We review Gorlin-Goltz phakomatosis, an uncommon disease often unrecognized by ophthalmologists, and discuss nosological considerations.

[Small cell neuroendocrine carcinoma of the bladder. A new case report]. / Tumeur neuro-endocrine à petites cellules de la vessie. Une nouvelle observation.

This rare but aggressive bladder tumour presents the morphological and immunohistochemical characteristic common to all neuro-endocrine tumours observed in other organs. The authors report a case of primarymalignant neuro-endocrine bladder tumour. Combined surgery-cisplatin-based adjuvant chematherapy is recommended.

[Neuroendocrine tumor of the prostate. A case report]. / Tumeur neuroendocrine de la prostate. Une observation.

We report one case of neuroendocrine tumour of the prostate in a 74 years old patient. The clinical symptomatology was dominated by pollakuria, dysuria. Digital rectal examination showed a bulky prostate, hard and irregular. The rate of PSA was high (23 ng/mL). The endorectal ultrasonography revealed a pelvic heterogeneous mass depending of prostate. The biopsy showed an adenocarcinoma of prostate. The patient underwent a transuretral resection of the prostate (TURP) and pulpectomy. Histology and immunohistochemistry through antibody anti NES and antibody antisynaptophysin of shavings of resection revealed a neuroendocrine tumour of the prostate. Twelve months after, the lung X-ray, abdominal ultrasonography and bone scintigram was normal. The rate of PSA was 2.1 ng/mL.

[A rare cause of posterior mediastinal tumors: extramedullary hematopoiesis]. / Une cause rare des tumeurs du médiastin postérieur: l'hématopoïèse extra-médullaire.

We report a case of a patient with intrathoracic extramedullary hematopoiesis presenting as a posterior mediastinal tumor, without associated myelofibrosis. Pathophysiology and the options for diagnosis and treatment in this condition are discussed.

[Degenerated Buschke Loewenstein tumor of the scrotum]. / Tumeur de Buschke Loewenstein scrotale dégénérée.

The Buschke-Loewenstein tumour (BLT) is a sexually transmissible benign tumour of viral origin. It is characterized by a large tumour volume, the possibility of local recurrence and especially its potential for malignant transformation. We report a case of scrotal BLT in a 49-year-old patient with a history of recurrent scrotal fistula, with negative HIV serology, but in whom the search for Human Papilloma Virus (HPV) was not performed. The tumour arising from the scrotal skin was resected and the testis was found to be normal. Histology confirmed transformation of the tumour into a squamous cell carcinoma. The clinical course was favourable, after a follow-up of 8 months with no local recurrence. In the light of this case of rare tumour, especially in its malignant form and its unusual scrotal site, the authors review the problems related to clinical classification, histology (differential diagnosis with primary squamous cell carcinoma), clinical course and treatment raised by this tumour.

[Infratemporal metastasis from a renal cell carcinoma]. / Métastase infratemporale d'un carcinome à cellules rénales.

INTRODUCTION: Kidney cancer, particularly clear cell carcinoma, has an unpredictable clinical course with a variable metastatic potential in time. Some metastatic sites are atypical, such as head and neck (6% of cases). We report an extremely rare case of clear cell renal carcinoma with a metastasis in the infratemporal fossa. OBSERVATION: A 67 year old male patient, operated in 2007 for a Fuhrman grade I clear cell carcinoma of the left kidney (radical nephrectomy), consulted for swelling of the left temporo-zygomatic region. A local biopsy allowed diagnosing clear cell renal carcinoma metastases. The patient was inoperable and was treated by antiangiogenic drugs. DISCUSSION: The recommended treatment is surgical exeresis when the metastasis is single and can be resected. Antiangiogenic therapy is an alternative in other cases.

[Temporomandibular joint primitive tumors and pseudo tumors]. / Pseudotumeurs et tumeurs primitives de l'articulation temporomandibulaire.

The temporomandibular joint (TMJ) can be the site of bone, cartilaginous, or synovial tumors. There is no well-defined histological classification. We listed all benign tumors, malignant primitive tumors, and rare pseudo tumors of the TMJ. We provide a list to help for the diagnosis and the differential diagnosis of non-tumoral lesions by far the most frequent.

[Heterotopic ossification on a midline laparotomy scar after digestive surgery: etiopathogenic discussion about two cases]. / Ossification heterotopique sur cicatrice mediane abdominale apres chirurgie digestive: discussion etiopathogenique a propos de deux cas.

Heterotopic ossification (HO) is rarely seen after abdominal surgery and usually occurs after orthopedic surgery. It is a benign affection with an unknown mechanism and an unpredictable occurrence rate; but some etiopathogenic hypotheses have been put forward. Therapeutic attitudes were not assessed in this study. We report two observations of heterotopic ossification on mid-line laparotomy scar which could support the etiopathogenic hypothesis of osteoblastic cells migration in granulation tissue from the neighbouring bone tissue, particularly from the sternum or pubian structures. The etiopathogenic mechanism and treatment of this affection are discussed with regards to previously published literature.

L'ossification hétérotopique (OH) est rare au cours de la chirurgie abdominale et intéresse surtout la pathologie orthopédique. C'est une affection bénigne, de survenue imprévisible, de mécanisme encore discuté et des hypothèses étiopathogéniques sont proposées. L'attitude thérapeutique n'est pas codifiée. Nous rapportons deux observations d'ossification hétérotopique sur cicatrice médiane sus ombilicale qui pourraient supporter l'hypothèse étiopathogénique d'une greffe de cellules ostéoblastiques au sein du tissu de granulation à la faveur d'un tissu osseux de voisinage notamment les structures osseuses xiphoïdiennes ou pubiennes. L'étiopathogénie et le traitement de cette affection sont discutés à la lumière des données de la littérature.