[Local failures of nasopharynx carcinoma: Anatomoclinical aspects and therapeutic results]. / Aspects anatomocliniques et thérapeutiques des récidives locales des carcinomes du nasopharynx.

PURPOSE: Retrospective analysis of clinical aspects and therapeutic results of nasopharynx cancer local failures. PATIENTS AND METHODS: Forty patients with local failure with or without nodal involvement of nasopharyngeal carcinoma were treated between 1993 and 2013. Reirradiation of nasopharynx was delivered at the dose of 60Gy. Platinum-based chemotherapy was indicated in case of locally advanced disease and/or associated nodal failure. RESULTS: The mean age at diagnosis of primitive tumour was 41.9 years (26-67 years). The mean time of relapse occurrence was 31.7 months (6-104 months). Sixty five percent of failures were confined to the nasopharynx. Nodal failure was seen in 14 cases. Twenty-eight patients had chemotherapy. Twenty-five patients had reirradiation of nasopharynx. Mean follow-up was 98 months (12-191 months). Fourteen patients were still alive and in complete remission. Five-year survival was 40.7%. Xerostomia was the most frequent late toxicity. No haemorrhage was seen. CONCLUSION: Reirradiation is the mainstay treatment of nasopharyngeal local failure. Late toxicity seems to decrease with novel techniques of reirradiation.

A novel BRCA2 in frame deletion in a Tunisian woman with early onset sporadic breast cancer.

BACKGROUND: Breast cancer is increasing among young women in Tunisia. Germline mutations in the BRCA1/2 genes are associated with a high risk for breast cancer development. However, the true contribution of BRCA1/2 mutation in sporadic breast cancer is not well documented. Our aim is to identify the BRCA2 mutation spectrum in Tunisian young women with breast cancer. METHODS: Screening the BRCA2 gene was performed using DHPLC, DNA sequencing and PCR-RFLP. RESULTS: We identified, in a woman diagnosed with early onset breast cancer, and without family history, a novel in frame deletion 5456delGTAGCA in the exon 11 of the BRCA2 gene which causes a loss of two residues Ser1743-Ser1744. The absence of this deletion in the patients' parents suggests that it is a de novo variant. Furthermore, we screened 108 sporadic cases, 50 familial cases, and 60 controls for the identified del6bp using PCR-RFLP. None of them carried this deletion suggesting that this variant is not a benign polymorphism and probably rare in our population. With regards to the position of the Ser1743-1744 in the BRCT domain, sequence alignment revealed that the Ser1743 is conserved among several species, which may reflect its importance in the BRCA2 function. A modeling of the wild-type and mutated BRC5-BRC6 domain revealed that the deletion of the 2 Serine residues might affect the structure of this BRCA2 domain. CONCLUSIONS: A novel in frame deletion 5456del6bp in BRCA2 gene was identified in an early onset woman with breast cancer and without family history.

What common biomarkers characterize a triple-negative profile in breast cancer?

Triple-negative breast cancers are not a homogeneous subgroup. There is substantial intra-subgroup diversity in tumor biology, prognosis and treatment sensitivity. Then, these triple-negative phenotype (TNP) groups, having specific features, can be again divided into subclasses based on an added immunohistochemical markers. The challenge in treating TNP breast cancers is that they are not responsive to antiestrogens or trastuzumab secondary to negative receptor status, and as a result have a poor prognosis. Therefore, the presence or absence of supplementary markers could help predict which therapies are best suited for patients based on the pattern that their disease markers show. In this review, we will recapitulate the major supplementary biomarkers related to triple-negative breast cancer, which could give new therapeutic options.

[Primary neuroendocrine tumors of the breast: a retrospective study of 21 cases and literature review]. / Tumeurs neuroendocrines primitives du sein: étude rétrospective de 21 cas et revue de la littérature.

PURPOSE: The aim of the present study was to discuss the epidemiology, clinical and pathologic features, treatment, and prognosis of primary neuroendocrine carcinomas of the breast. PATIENTS AND METHODS: We report 21 cases diagnosed over a period of 12 years (1995-2011) at the university hospital of Sfax. A review of the clinical data with pathology and immunohistochemistry study was carried out for all the cases. RESULTS: The average age was 62 years (34-86 years). At the time of the diagnosis, tumours were classified T1 and T2 (16 cases), N1 (11 cases) and M1 in two cases. The histological examination has shown 13 cases of solid neuroendocrine carcinoma, six cases of large cell type and two cases of atypical carcinoid. Grade I and II SBR were found in 18 cases. Eighty-one percent of the tumours were reactive for synaptophysin; all tumours were positive for chromogranin. Thirteen (61.9%) tumours were estrogen receptor-positive and 12 (57.5%) progesterone receptor-positive. Nineteen (90.5%) tumours were negative for HER2/neu. Overall five-year survival was 72.7%. All patients had surgical treatment with modified radical mastectomy in 13 cases. Adjuvant treatment was indicated according to histopronostic elements. CONCLUSION: For primary neuroendocrine carcinoma of the breast, multivariate analysis identified three predictive factors for mortality: disease stage, histological grade and lymph node involvement.

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.

Seminal androgens, oestradiol and progesterone in oligoasthenoteratozoospermic men with varicocele.

This study aimed to assess seminal androgens, oestradiol, progesterone levels in oligoasthenoteratozoospermic (OAT) men with varicocele (Vx). In all, 154 men with matched age and body mass index were investigated that were divided into healthy fertile controls (n = 35), OAT men with Vx (n = 55), OAT men without Vx (n = 64). They were subjected to assessment of semen parameters, seminal levels of testosterone (T), androstenedione (A), 5α-androstane-3 α,17 ß-diol (3 α-diol), oestradiol (E2 ), 17-hydroxyprogesterone (17-OHP) and progesterone (P). Seminal levels of T and A were significantly decreased where seminal levels of 3 α-diol, E2 , 17-OHP, P were significantly higher in OAT men with/without Vx compared with fertile controls. Sperm count, sperm motility and sperm normal forms percentage demonstrated significant positive correlation with seminal T and A and significant negative correlation with seminal 3 α-diol, E2 , P. It is concluded that in fertile men, seminal T and A are significantly increased and seminal 3 α-diol, E2 , 17-OHP, P are significantly decreased compared with infertile OAT men with/without Vx. Association of Vx demonstrated a nonsignificant influence on these hormonal levels in OAT cases. Sperm count, sperm motility and sperm normal forms demonstrated significant positive correlation with seminal T, A and significant negative correlation with seminal 3 α-diol, E2 , P.

Mixed stromal and smooth muscle tumours of the uterus: a report of two cases.

Mixed stromal and smooth muscle uterine tumours, defined as those containing at least 30% of each component as seen by routine light microscopy, are rare. This report describes the morphological features of two such tumours diagnosed in 44-year-old and 50-year-old females complaining from recurrent uterine bleeding that was unresponsive to medical treatment. Morphological and immunohistochemical evaluations were performed, and a final diagnosis of mixed endometrial stromal nodule and smooth muscle tumour of the uterus was rendered in both cases.

Biological therapy of strontium-substituted bioglass for soft tissue wound-healing: responses to oxidative stress in ovariectomised rats.

New synthetic biomaterials are constantly being developed for wound repair and regeneration. Bioactive glasses (BG) containing strontium have shown successful applications in tissue engineering account of their biocompatibility and the positive biological effects after implantation. This study aimed to assess whether BG-Sr was accepted by the host tissue and to characterize oxidative stress biomarker and antioxidant enzyme profiles during muscle and skin healing. Wistar rats were divided into five groups (six animals per group): the group (I) was used as negative control (T), after ovariectomy, groups II, III, IV and V were used respectively as positive control (OVX), implanted tissue with BG (OVX-BG), BG-Sr (OVX-BG-Sr) and presented empty defects (OVX-NI). Soft tissues surrounding biomaterials were used to estimate superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx) and malondialdehyde (MDA) concentration. Our results show that 60 days after operation, treatment of rats with BG-Sr significantly increased MDA concentration and caused an increase of SOD, CAT and GPx activities in both skin and muscular tissues. BG-Sr revealed maturation of myotubes followed a normal appearance of muscle regenerated with high density and mature capillary vessels. High wound recovery with complete re-epithelialization and regeneration of skin was observed. The results demonstrate that the protective action against reactive oxygen species (ROS) was clearly observed in soft tissue surrounding BG-Sr. Moreover, the potential use of BG-Sr rapidly restores the wound skin and muscle structural and functional properties. The BG advantages such as ion release might make BG-Sr an effective biomaterial choice for antioxidative activity.

Clinical review--breast adenoid cystic carcinoma.

OBJECTIVES: To review the published literature on the diagnosis and management of adenoid cystic carcinoma (ACC) of the breast. MATERIALS AND METHODS: Papers were identified by searching PubMed using the terms « adenoid cystic carcinoma ¼ and « breast ¼. Additional papers were identified by reviewing references of relevant articles. RESULTS: ACC of the breast is a rare tumour comprising less than 0.1% of breast malignancies. Its cellular origin in the breast remains unclear. The histological characteristics of ACC in the breast are similar to those of ACC of the salivary glands. However the prognosis of ACC of the breast is better than that of other localizations with prolonged survival. Breast-conserving treatment including postoperative radiotherapy seems to be equivalent to mastectomy alone with respect to survival. The value of adjuvant systemic therapies is not established. Late relapses can occur, so long-term follow-up is mandatory for these patients. CONCLUSIONS: ACC of the breast has a favourable prognosis. An accurate diagnosis and appropriate treatment are therefore important.

[Rare cause of pulmonary embolism in a child]. / Embolie pulmonaire hydatique chez un enfant.

Cardiac hydaticyst is a rare condition and accounts for only 0.5 to 2% of all visceral locations of hydatid disease. The objective of this study was to point out the main clinical, radiological, and disease-course characteristics of this rare and serious pathology. We report a 13-year-old patient with a hydatid pulmonary embolism caused by a hydatid cyst of the interauricular septum. The diagnosis was established by transthoracic echocardiography, thoracic CT scan, and hydatid serology. Surgery was performed without delay and the outcome was good after 15 months of follow-up. This case underlines the need for rapid diagnosis and surgery before complications of cardiac hydatid cyst.

Occult lymph node metastasis in laryngeal squamous cell carcinoma: therapeutic and prognostic impact.

OBJECTIVES: To assess the incidence and impact on treatment and prognosis of occult lymph node metastasis in laryngeal cancer. PATIENTS AND METHODS: A retrospective study was performed on 164 patients treated for laryngeal cancer, initially classified as N0, with cervical lymph node dissection. RESULTS: Occult metastases were found in 41 neck specimens (12.5%) from 32 patients (19.5%). Involvement per neck level was: 7% level IIa, 2.4% IIb, 4.2% III and 2.7% IV. Lymph node involvement was significantly increased in case of T3T4 tumor or invasion of the pre-epiglottic space or cartilage. Survival was significantly influenced by pN status (pN- = 12 years, vs pN+ = 9 years; P = 0.006). CONCLUSION: Level IIb or IV involvement is rare. Superselective neck dissection (IIa, III) seems to be indicated in T1T2 N0 tumor. In case of advanced tumor or pre-epiglottic space or cartilage invasion, functional neck dissection is mandatory.

[Cystic lymphangioma of the pancreas: an exceptional location]. / Lymphangiome kystique du pancréas : une localisation exceptionnelle.

Cystic lymphangioma of the pancreas is a rare benign vascular tumor. Its histogenesis is still hypothetical and preoperative diagnosis is difficult. We report a new case in a 14-year-old girl hospitalized for pain in the epigastrium and vomiting. Radiologic findings concluded in a cystic tumor of the head of the pancreas. The mass was completely excised. The pathological examination of the surgical specimen revealed cystic formations whose wall consisted of a squamous endothelial epithelium on a fibrous tissue and a few scattered lymphoid clusters, arguing in favor of a cystic lymphangioma.

Association of squamous cell carcinoma of the larynx and chronic lymphoid leukemia.

INTRODUCTION: The association of squamous cell carcinoma of the larynx and chronic lymphocytic leukemia (CLL) is exceptional. We report an observation of this association and present the therapeutic problems as well as the effects on prognosis. OBSERVATION: Direct laryngoscopy showed a tumor of the right hemilarynx, with the biopsy concluding in moderately differentiated keratinizing squamous cell carcinoma. The patient had a total laryngectomy, with bilateral lymph node evidement. The anatomopathological examination of the operative specimen demonstrated infiltration of the larynx and squamous cell carcinoma adenopathies and CLL. It was decided to monitor the chronic lymphoid leukemia, classified as Binet stage B. The synchronous or metachronous onset of a second cancer in a patient with CLL is more frequent than in the general population. The synchronous association of squamous cell carcinoma of the larynx and CLL has been described only rarely. The therapeutic strategy should focus first on the cancer with the shortest survival rate. The prognosis is more negative in an association of cervicofacial squamous cell carcinoma and leukemia than in a single cervicofacial cancer.

[Juvenile nasopharyngeal carcinoma: anatomoclinic, biologic, therapeutic and evolutive aspects]. / Les cancers du cavum juvéniles: aspects anatomocliniques, biologiques, thérapeutiques et évolutifs.

Nasopharyngeal carcinoma (NPC) represents one of the most frequent epithelial tumours of the child in intermediate risk regions. In the Maghreb, it represents the first cancer of teenagers of 15-20 years old. The Epstein Barr virus (EBV) is the most important etiologic factor. Its role in the pathogeneses of NPC has been confirmed by several studies. Young NPCs are characterized by a low rate of EBV antibodies and a high level of LMP1 cell expression than in adult's NPC. The undifferentiated carcinoma nasopharyngeal type (UCNT) represents the most frequent histological type. Immunohistochemical analyses of North Africa early onset NPC is characterized by a weak expression of bcl-2 and p53 and a strong expression of LMP1 and c-kit what makes them different from the adult's NPC. Clinically, cervical node involvement is constantly present. Juvenile NPC is characterized by a very important locoregional extension as well as a high rate of distant metastases. More than 15% of patients had metastases at diagnosis. Radiotherapy is still the standard therapy of NPC. Only some retrospectives studies have been published to determine the benefit, the type and the timing of the chemotherapy in the treatment of juvenile NPC. Metastatic relapses constitute the main cause of death at these young patients. An improvement of the prognosis can be waited with concomitant chemotherapy and intensity modulated radiotherapy. However, randomized multi institutional studies are necessary to standardize the treatment of the NPC in childhood.

[North African and Southeast Asian nasopharyngeal carcinomas: between the resemblance and the dissemblance]. / Le carcinome nasopharyngé en Afrique du Nord et dans le Sud-Est asiatique: entre similitude et différence.

Nasopharyngeal carcinoma (NPC) is an unusual head and neck cancer because of its unequal geographical distribution and its consistent association with the Epstein-Barr virus (EBV). This malignant tumor poses a serious public health problem in many countries, especially in Southeast Asia and North Africa where the recorded incidence are highest. During the past decade, a growing number of studies were undertaken to define the molecular basis of NPC. However, the analysis of several clinical and biological parameters of North African and Southeast Asian NPCs has shown notable differences, suggesting that they could result from a distinct combination of etiological factors. One intriguing characteristic of North African NPC, concerns its bimodal age distribution with a secondary peak of incidence in the range of 15-25 years, not observed in Asian NPC. In this juvenile form of NPC, immuno-histochemistry assay has shown that the two key proteins controlling the apoptotic-survival balance p53 and Bcl-2 are less frequently expressed whereas the transmembrane tyrosine-kinase receptor c-kit and the main EBV oncoprotein LMP1 were more abundant. In addition, the EBV serological alterations are less informative for the diagnosis of the juvenile compared to the adult form. In addition, most North African NPCs contain EBV strains with genetic polymorphisms distinct from those described in the Southeast Asia series (predominance of F, D, H1-H2, XhoI+ and f, C, H, XhoI- respectively). In contrast, studies relating on tumor chromosomal alterations or aberrant promoter methylation result in data very similar to those obtained from the Southeast Asia series, supporting the concept of a common molecular basis for all NPC regardless of patient geographic origin.

[Appendicular cystadenocarcinoma with cutaneous fistula]. / Cystadénocarcinome appendiculaire fistulisé à la peau.

BACKGROUND: Cutaneous metastasis of colorectal cancer is rare. We report a case of fistular lesions of the buttocks revealing a mixed tumour of the appendix involving mucinous cystadenocarcinoma and carcinoid tumour. CASE REPORT: A 67-year-old woman was admitted for four skin fistulae of the right buttock present for 6 years. Histological examination of skin biopsy specimens identified infiltration of the dermis by metastatic mucinous adenocarcinoma while colonoscopy showed a caecal tumour measuring 4 cm. Surgical excision was performed involving right hemicolectomy, evacuation of retroperitoneal mucin collection and excision of fistulae. Histopathological examination of surgical specimen confirmed mixed tumour consisting of perforated mucinous cystadenocarcinoma and carcinoid tumour of the appendix. Recurrence of the fistular lesions was seen. The patient was hospitalized several times for surgical drainage of mucin. She died one year later. DISCUSSION: Cutaneous metastasis of colorectal cancer is an uncommon event that usually occurs after identification of the primary tumour and generally indicates advanced-stage disease and an ominous prognosis. This case is particular and underlines the need to rule out a metastatic origin of cutaneous fistulae, even in patients otherwise apparently in good health.

[Pediatric nasopharyngeal carcinoma: Anatomoclinic aspects, therapeutic results and evolutive particularities]. / Le cancer du cavum de l'enfant et l'adulte jeune : aspects anatomocliniques, thérapeutiques et particularités évolutives.

PURPOSE: We retrospectively analyzed anatomoclinic, therapeutic and evolutive particularities of 74 young patients (< or =20 years) with nasopharyngeal carcinoma treated between 1993 and 2005. PATIENTS AND METHODS: Initial work-up included a fiberoptic nasofibroscopy with biopsy, tomodensitometry and/or MRI of nasopharynx and neck, chest X-ray, abdominal ultrasonography and bone scan. Patients were treated with either primary chemotherapy (epirubicin and cisplatin) followed by radiotherapy or concomitant radiochemotherapy (five fluorouracil and cisplatin). Radiotherapy was delivered to a total dose of 70 to 75 Gy to nasopharynx and involved cervical lymph nodes and 50 Gy to the remainder cervical areas. RESULTS: The median age was 16 years. Sixty-three percent of patients had undifferentiated tumors. Sixty-six percent had locally advanced tumor. With a median follow-up of 107 months, one patient presented a local relapse, 24 patients developed distant metastases with a median delay of 7 months. The 5 years overall survival and disease-free survival were 66 and 65 %. Late complications were dominated by dry mouth and endocrine disorders. COMMENTS: Pediatric nasopharyngeal carcinoma is characterized by an early metastatic diffusion. Local control is excellent but with severe late toxicities. New techniques of radiotherapy and new molecules of chemotherapy could improve these results.

[Extrafollicular adenomatoid odontogenic tumour: report of two cases]. / Tumeur odontogène adénomatoïde extrafolliculaire: à propos de deux cas.

The purpose of this study was to analysis the clinicopathological features of adenomatoid odontogenic tumour extrafollicular and to discuss the diagnosis pitfull. We present two cases diagnosed and followed at the C.H.U. Habib Bourguiba, Sfax. It is about a 15 year-old boy and a 46 year-old woman who presented gingival swelling. The panoramic radiographs showed in both cases, a radiolucent area affecting teeth 23, 24 and 35 respectively. A computed tomography scan, realized at the second cas, demonstrated an expansile lesion with a sclerotic rim. An exploratory surgical approach was chosen and the final diagnosis was microscopically confirmed to be an extrafollicular variant of adenomatoid odontogenic tumour. The patients were healthy and have not shown any signs of recurrence at follow-up. The two cases described illustrate clinical and radiographic features of the extrafollicular variant of adenomatoid odontogenic tumour. Careful diagnostic procedure and adequate interpretation of radiographic findings may result in a correct diagnosis with otherwise may result in unnecessary endodontic treatment.