Primitive pituitary perivascascular epithelioid cell tumor: A challenging diagnosis of melanocytic pituitary lesion.

BACKGROUND: Perivascular Epithelioid cell tumors (PEComa) are rare mesenchymal tumors. They generally occur in the gynecologic or digestive tract. The diagnosis of Central Nervous System PEComa is exceptional and challenging. CASE DESCRIPTION: We report the case of a 46-year-old woman, with no particular medical history, who presented a secondary amenorrhea and a slight hyperprolactinemia. She was diagnosed on MRI with a pituitary tumor showing spontaneous hypersignal in T1-weighted images. After failure of medical treatment with cabergoline, surgical resection was required due to progressive tumor growth. Macroscopic aspect and initial immunohistochemical features were in favor of a primitive hypophyseal melanocytoma. However, molecular and transcriptional study through targeted exome- and RNA-sequencing led to the exceptional diagnosis of pituitary Perivascular Epithelioid Cell Tumor (PEComa). Three-years of postoperative radio-clinical follow-up showed an asymptomatic non-evolutive small remnant. CONCLUSION: PEComa is an exceptional diagnosis among pituitary tumors. It should be evoked as a potential differential diagnosis in case of primitive melanocytic lesion of the pituitary gland. Specific molecular analysis is mandatory to confirm the diagnosis and exclude differential diagnosis.

Pemphigus vulgaris antigen mRNA quantification for the staging of sentinel lymph nodes in head and neck cancer.

BACKGROUND: Molecular diagnosis has been proposed to enhance the intra-operative diagnosis of sentinel lymph node (SLN) invasion in head and neck squamous cell carcinoma (HNSCC). Although cytokeratin (CK) mRNA quantification with real-time reverse transcriptase-PCR (QRT-PCR) has produced encouraging results, the more discriminating markers remain to be identified. METHODS: Pemphigus vulgaris antigen (PVA), squamous cell carcinoma antigen (SCCA), and CK17 mRNA were quantified using QRT-PCR, and the results were compared with an extensive histopathological examination of the entire SLNs on 78 SLNs harvested from 22 patients with HNSCC. RESULTS: SCCA and CK17 quantification showed significantly higher mRNA values for macrometastases (MAs) than for either negative or isolated tumour cell (ITC) SLNs (P<0.01). Pemphigus vulgaris antigen allowed the discrimination of all MAs and micrometastases from both negative and ITC SLNs (P<0.001). For the neck staging of patients, considering metastatic vs non-metastatic status, receiver-operating characteristic curve analysis found areas under the curve of 93.8, 97.9, and 100% for CK17, SCCA, and PVA, respectively. With PVA, a cutoff value of 562 copies per 100 ng of cDNA permitted the correct distinction between patients with positive as opposed to negative neck nodes in all cases. CONCLUSION: PVA seems to be a highly promising marker for accurate intra-operative SLN staging in HNSCC by QRT-PCR.

Pituitary metastasis of malignant melanoma misdiagnosed as pituitary adenoma: A case report and systematic review of the literature.

We report a case of malignant melanoma revealed by a metastasis to the pituitary gland. The tumor was misdiagnosed as a pituitary adenoma and aggressive transsphenoidal surgery was complicated by a cerebrospinal fluid fistula. Nine weeks later, the patient presented multiple leptomeningeal and brain metastases spreading from the sellar region. Regarding these observations, we conducted a systematic review of the literature in order to investigate clinicoradiological features that should lead clinicians to suspect pituitary metastasis and how it should impact the surgical management.

[Sinonasal adenocarcinomas reviewed. Prognostic value of WHO 2005 histological classification]. / Les adénocarcinomes nasosinusiens revisités. Intérêt pronostique de la classification histologique OMS 2005.

OBJECTIVES: The WHO 2005 histological classification separates sinonasal adenocarcinoma (ADC) into three classes: intestinal-type adenocarcinoma (ITAC), low-grade sinonasal ADC and high-grade sinonasal ADC. The goal of this study was to check the relevance of this classification on the prognosis of patients treated for ADC. PATIENTS AND METHODS: All the files of patients treated consecutively in the ENT department of the Montpellier University Hospital for ADC between 1980 and 2003 were retrospectively re-examined. Each case was reviewed for anatomical and pathological data based on the immunohistochemistry results according to the WHO 2005 classification, with a study of a panel of markers: cytokeratin 7 (CK7), cytokeratin 20 (CK20), Villin, CDX2 and EGFR. The epidemiologic data, the methods of treatment and the follow-up were studied. The survival probabilities were calculated using the Kaplan-Meier method and the survival graphs were compared using a log-rank test. RESULTS: Sixty-two files were reviewed. Twelve patients were reclassified into the adenoid cystic carcinoma category and excluded from the study. In the 50 remaining cases, there were 36 ITAC cases, four low-grade ADC cases and 10 high-grade dedifferentiated carcinomas. For all of the ADC cases, the total survival at 5 years and without recurrence was 64 and 52%, respectively. The analysis of the three subgroups showed a total survival of 72.2% for ITAC, 100% for low-grade and 20% for high-grade ADC with a significant difference (p=0.044). This immunohistochemical distinction was mainly based on the expression of CK20 found in 98% of the ITAC cases and absent in low- and high-grade ADC patients. CONCLUSION: The WHO 2005 classification for sinonasal ADC provides a valuable prognosis by showing a difference in the progression profile between ITAC, low-grade ADC and high-grade ADC. Moreover, broader studies should be conducted to investigate the different subtypes of ITAC.

[Study of the platysma coli muscle vascularisation by the facial artery. Implication during the elevation of the musculo-cutaneous platysma coli muscle flap]. / Etude de la vascularisation du muscle platysma coli par les branches de l'artère faciale. Implications lors du prélèvement du lambeau musculo-cutané de platysma coli.

AIM OF THE STUDY: The purpose of this study was to assess the vascularity of the platysma muscle by the branches of the facial artery, in order to determine the best means of harvesting a musculo-cutaneous flap while ensuring maximum vascular security. PATIENTS AND METHODS: Ten platysma muscles were dissected on 4 fresh specimens and one formaldehyde-preserved specimen. The dissection was performed after injection of the facial artery in 6 cases, while 4 muscles were dissected without any previous injection. RESULTS: The vascular supply of the platysma muscle comes essentially from the branches of the submental artery and from branches descending straight from the facial artery. Other collateral branches contribute to this vascularization, but their importance is minor. All these arteries reach the muscle, entering its visceral aspect, then proceed to the sternal notch in a radial axis. CONCLUSION: The size of the flap has to be defined within a quadrilateral figure with its base formed by the mandibular edge and its apex by the inferior limit of the flap. It is essential to preserve the maximum possible muscular thickness, especially on the medial side of the flap. If the facial artery needs to be ligated, this has to be done as it enters the submandibular space in order to protect most of the collateral branches destined to the muscle. The vascularization is then taken back by the homo- and contro-lateral facial vascularisation in an inverted flow in the remaining segment of the facial artery.

Endoscopic transnasal transseptal pituitary surgery.

Pituitary surgery is performed via a transsphenoidal approach in the vast majority of cases according to various methods that have changed over the years. A microscopic transseptal approach via a sublabial mucosal incision or a nasal mucosal incision has also been extensively used. An endoscopic transnasal approach was first described in the 1990's, followed by the concept of a microscopic transseptal approach and an endoscopic strictly endonasal approach. We use an entirely endoscopic transseptal transsphenoidal approach via an incision in the nasal mucosa for both access and tumour resection. This procedure has a number of advantages: strictly midline approach to the sella turcica, large operative field, no interference between instruments and a low rate of nasal complications.

Head and neck carcinoma of unknown primary.

In adult cervicofacial pathology, carcinoma of unknown primary is defined as lymph-node metastasis the anatomic origin of which is not known at the time of initial management. It constitutes up to 5% of head and neck cancers. Presentation may suggest benign pathology, delaying and confusing oncologic treatment. Diagnostic strategy in cervical lymph node with suspicion of neoplasia requires exhaustive work-up to diagnose malignancy and, in 45% to 80% of cases, depending on the series, to identify the primary site. Histologic types comprise squamous cell carcinoma, thyroid carcinoma, adenocarcinoma, neuroendocrine carcinoma and undifferentiated carcinoma. Association is sometimes found with human papilloma virus or Epstein Barr virus, guiding treatment. The objective of the present study was to provide clinicians with the necessary diagnostic tools, based on the current state of clinical, imaging and pathologic knowledge, and to detail treatment options.

Direct identification of molds by sequence analysis in fungal chronic rhinosinusitis.

Fungi are widely implicated in chronic rhinosinusitis. Direct microscopic examination (DME) is used to confirm the biological diagnosis of fungal rhinosinusitis (FRS). Diagnostic sensitivity of DME is better than culture, however DME does not allow fungal species identification. In this study, we included 54 sinus samples demonstrating hyphae on DME. Direct sequencing was compared to culture for the identification of the fungal species. Sequence analysis identified fungi in 81.5% of cases while culture was positive in only 31.5%. The most common genus was Aspergillus and the identified species belonged to section Fumigati or to section Flavi. Among other fungi identified by sequence analysis, Schizophyllum commune was present in three samples attesting to the importance of this Basidiomycetes in FRS. Our results clearly demonstrate the superiority of sequencing compared to culture when performed on specimens with hyphal elements at DME, and contributes to the epidemiological knowledge of fungi involved in FRS.

Guidelines of the French Society of Otorhinolaryngology (SFORL). Epistaxis and high blood pressure.

OBJECTIVES: The authors present the guidelines of the French Oto-Rhino-Laryngology - Head and Neck Surgery Society (Société Française d'Oto-Rhino-Laryngologie et de Chirurgie de la Face et du Cou: SFORL) on epistaxis in high blood pressure. METHODS: A multidisciplinary work group was entrusted with a review of the scientific literature on the above topic. Guidelines were drawn up, based on the articles retrieved and the group members' individual experience. They were then read over by an editorial group independent of the work group. The final version was established in a coordination meeting. The guidelines were graded as A, B, C or expert opinion, by decreasing level of evidence. RESULTS: It is recommended to measure the blood pressure of patients in acute-phase epistaxis (Grade A); to control high blood pressure medically in the acute phase of bleeding, to reduce its duration; to monitor blood pressure at the waning of nosebleed; and to control high blood pressure medically in the waning phase to reduce the risk of recurrence. In case of persistent high blood pressure on waning of severe epistaxis, it is recommended to prescribe cardiovascular evaluation to screen for underlying hypertensive disease (Grade B).

Guidelines of the French Society of Otorhinolaryngology (SFORL). Second-line treatment of epistaxis in adults.

OBJECTIVES: The authors present the guidelines of the French Oto-Rhino-Laryngology - Head and Neck Surgery Society (Société Française d'Oto-Rhino-Laryngologie et de Chirurgie de la Face et du Cou: SFORL) on second-line treatment of epistaxis in adults, after failure of anterior and/or anterior-posterior nasal packing. METHODS: A multidisciplinary work group was entrusted with a review of the scientific literature on the above topic. Guidelines were drawn up, based on the articles retrieved and the group members' individual experience. They were then read over by an editorial group independent of the work group. The final version was established in a coordination meeting. The guidelines were graded as A, B, C or expert opinion, by decreasing level of evidence. RESULTS: Arterial embolization should be performed by an experienced interventional neuroradiologist with adequate technical facilities, to reduce the risk of complications. Cerebral and supra-aortic vessel CT angiography should be performed in case of post-traumatic epistaxis with suspected internal carotid injury. In case of persistent bleeding despite endoscopic hemostasis of the sphenopalatine artery, anterior ethmoidal artery hemostasis should be performed via a medial canthal incision, with endoscopic assistance as needed. In case of persistent epistaxis despite the usual surgical and neuroradiological procedures, surgical exploration of the sinonasal cavities should be performed, with elective coagulation in case of bleeding from secondary branches, and/or ethmoidectomy in case of diffuse bleeding. A decision-tree was drawn up for the management of second-line treatment of epistaxis.

Guidelines of the French Society of Otorhinolaryngology (SFORL). First-line treatment of epistaxis in adults.

OBJECTIVES: The authors present the guidelines of the French Otorhinolaryngology-Head and Neck Surgery Society (SFORL) on first-line treatment of epistaxis in adults. METHODS: A multidisciplinary work-group was entrusted with a review of the scientific literature on the above topic. Guidelines were drawn up, based on the articles retrieved and the group members' individual experience. They were then read over by an editorial group independent of the work-group. The guidelines were graded as A, B, C or expert opinion, by decreasing level of evidence. RESULTS: In first-line, clearing out blood-clots and bidigital compression are recommended. In case of persistent bleeding, local anesthesia with a vasoconstrictor is essential before nasal diagnostic and therapeutic procedures. When the origin of bleeding is not anterior, nasal endoscopy is an essential procedure, identifying the bleeding site in most cases. In case of active bleeding, cauterization is recommended but is only feasible if the bleeding site is clearly visible. When the bleeding site is not identifiable or the first measures failed, anterior packing may be performed by a non-specialist physician. Epistaxis requires subsequent nasal endoscopy performed by an ENT specialist. Patients should be informed of the measures to be taken in case of epistaxis at home, and the risks associated with the various treatments.

Guidelines of the French Society of Otorhinolaryngology (SFORL). Managing epistaxis under coagulation disorder due to antithrombotic therapy.

OBJECTIVE: The authors present the guidelines of the French Society of Otorhinolaryngology concerning the management of epistaxis during antithrombotic therapy. METHODS: A review of the literature was performed by a multidisciplinary work group. Guidelines were drafted, then re-edited by a reading group independent of the work group to produce the final text. The proposed recommendations were graded A, B, C or expert opinion, on decreasing levels of evidence. RESULTS: Before any decision to modify antithrombotic treatment, it is recommended to screen for overdose and assess the risk of thrombosis. In stented patients, dual antiplatelet therapy must be maintained during the month following stenting and, if possible, for 3 months. In epistaxis with antivitamin K (AVK) overdose controlled by packing, corrective measures are based on the International Normalized Ratio (INR). In uncontrolled epistaxis, it is recommended to stop AVK, administer antidotes and regularly monitor INR. In case of intravascular embolization, it is not recommended to alter anticoagulant treatment.

Guidelines of the French Society of Otorhinolaryngology (SFORL) (short version). Specific treatment of epistaxis in Rendu-Osler-Weber disease.

OBJECTIVES: The authors present the guidelines of the French Oto-Rhino-Laryngology - Head and Neck Surgery Society (Société Française d'Oto-Rhino-Laryngologie et de Chirurgie de la Face et du Cou: SFORL) concerning specific treatment of epistaxis in Rendu-Osler-Weber disease. METHODS: A multidisciplinary work-group was entrusted with a review of the scientific literature on the above topic. Guidelines were drawn up, based on the articles retrieved and the group members' individual experience. They were then read over by an editorial group independent of the work group. The final version was established in a coordination meeting. The guidelines were graded as A, B, C or expert opinion, by decreasing level of evidence. RESULTS: Rendu-Osler-Weber disease is diagnosed from the presence of at least three of Curaçao's four criteria. In acute epistaxis, bidigital compression is recommended. Embolization is reserved for resistant epistaxis. Non-resorbable nasal packing and cauterization are contraindicated. Patient education is essential. Telangiectasia of the nasal mucosa can be treated by various local means. In the event of insufficient control, systemic administration of tranexamic acid is recommended.

Specific immunotherapy in allergic rhinitis.

Allergic rhinitis is a common condition, with significant impact on quality of life depending on severity and quality of control. Allergen-specific immunotherapy (allergen-SIT) is the only known treatment able to alter the natural course of allergic rhinitis. Although well known to allergologists, it has yet to be fully adopted by the ENT community. This review, based on the most recent meta-analyses and clinical studies, shows that SIT significantly reduces symptoms and medication requirements (nasal corticosteroids, H1-antihistamines) in allergic rhinitis. It can reduce the risk of progression to asthma and, if initiated early enough, of developing new sensitizations. Immunobiological analysis shows an altered inflammatory profile following SIT, with immune tolerance involving T-regulatory lymphocyte induction and IgG production. Sublingual SIT with drops is as effective as subcutaneous SIT and is simpler to use, with less anaphylactic risk. Standardization of trial protocols in terms of treatment response assessment and side effect grading is recommended to improve comparative studies. Sublingual SIT with tablets has recently been introduced, providing a good opportunity for ENT practitioners to adopt the SIT approach in rhinitis triggered by allergy to pollens and, in the near future, to house dust mites.

Gardner's syndrome presenting with a fibromatous tumour of the parotid.

INTRODUCTION: Gardner's syndrome is the association of familial adenomatous polyposis (FAP) with an anaphase promoting complex (APC) gene mutation and several extradigestive manifestations: osteomas, epidermal cysts and desmoid tumours. Only 2 cases of FAP associated with parotid tumour have been reported in the literature: one carcinoma and one pleomorphic adenoma. CASE REPORT: We report the case of a 23-year-old man with Gardner's syndrome presenting with a fibromatous tumour of the left parotid gland. The other clinical manifestations were an osteoma of the skull base and a mesentery desmoid tumour. Left total parotidectomy was performed, followed by gastroscopy and colonoscopy, demonstrating numerous colonic adenomas. Genetic analysis revealed an APC gene mutation, confirming the diagnosis. Total prophylactic colectomy was performed. CONCLUSIONS: This is the first reported case of Gardner's syndrome associated with a fibromatous tumour of the parotid. Early management of FAP is essential to prevent colorectal cancer that occurs in 100% of untreated cases. The rarity of this syndrome and the parotid site can lead to delayed diagnosis.

Interest of video-assisted minimally invasive surgery in primary hyperparathyroidism.

INTRODUCTION: Surgery is the only radical and definitive treatment for primary hyperparathyroidism. Exploration of the four parathyroid sites is giving way to minimally invasive techniques. The present study sought to compare two minimally invasive parathyroidectomy techniques, by classical cervicotomy (MIP-C) and by video-assistance (MIP-VA), in terms of success rate, complications rate, operating time, and patient and community physician satisfaction. MATERIALS AND METHOD: A non-randomized retrospective comparative study included 112 patients presenting with primary hyperparathyroidism with identified parathyroid adenoma, operated on between January 2005 and October 2010. The two groups were constituted according to the surgeons' habitual practice: 54 cases of MIP-VA and 58 of MIP-C. RESULTS: Results for MIP-VA and MIP-C were respectively: success, 96.3% vs. 100% (P=0.09); mean scar size, 1.47 vs. 3.43cm (P<0.01); hypocalcemia, 2 vs. 3 cases (P=0.1); theater time, 94.25 vs. 76min (P=0.02); and postoperative stay, 1.08 vs. 1.37 days (P=0.07). Patient satisfaction was comparable between groups, while 93.3% of community physicians found MIP-VA preferable to MIP-C, although only 39.3% had known the MIP-VA technique. CONCLUSION: With efficacy, morbidity and patient satisfaction comparable to classical surgery, MIP-VA significantly reduced cervicotomy size and hospital stay. Community physicians considered it to be preferable to MIP-C.

[Treatments of hereditary hemorrhagic telangiectasia of the nasal mucosa]. / Indications et stratégies thérapeutiques des épistaxis dans la maladie de Rendu Osler.

UNLABELLED: Hereditary Hemorrhagic Telangiectasia is a systemic autosomal dominant disorder involving blood vessels. The most common symptom is recurrent epistaxis. The treatments of these epistaxis are numerous but such treatments are often symptomatic and their effects are often not sustained. Some of these treatments may be complicated by visceral vascular malformations. The aim of this study is to propose a treatment plan for these patients with hierarchical organisation of therapeutic options taking into account of their previous therapy. METHOD: H. Plauchu organized in Paris, december 2002 a meeting with any medical specialists of this disease. They have analysed variety of therapies that have been proposed for epistaxis control in Hereditary Haemorrhagic Télangiectasia. RESULTS: Most common use packing of nasal fossa and then hyperselective embolization of the internal maxillary and facial arteries for severe epistaxis. For chronic epistaxis, best treatment use sclerotics products (Ethibloc) and laser. After discussion, primary embolization could be useful to reduce vascularization of nasal fossa. CONCLUSION: Treatment of epistaxis in Hereditary Haemorrhagic Telangiectasia could increase in few years. Use of an index card of for epistaxis in the disease of Rendu-Osler could help to find treatment of choice.

Overview of allergic mechanisms. Ebastine has more than an antihistamine effect.

Histamine antagonists together with topical steroids are the treatment of choice in allergic rhinitis. Many of these histamine antagonists exhibit effects in addition to blockade of the histamine receptor. In this study we have investigated the effects of ebastine and carebastine on the release of eicosanoids and cytokines from human dispersed polyp cells and the effect of these compounds on the release of inflammatory mediators into nasal lavage fluid after allergen challenge. Ebastine was shown to block the release of anti-IgE-induced prostaglandin D2 (PGD2) and leukotriene C4/D4 from human nasal polyp cells (IC30 values of 2.57 and 9.6 mumol/L, respectively) and to inhibit the release of cytokines. Carebastine inhibited the release of PGD2 (IC30 8.14 mumol/L) but had little effect on cytokine release. When patients underwent nasal provocation tests with allergen, ebastine significantly increased the mean number of pollen grains required to induce an allergic response. In addition, the drug inhibited the release of granulocyte-macrophage colony-stimulating factor but had no effect on any other mediators measured.

Surgical alternatives to uvulopalatopharyngoplasty in sleep apnea syndrome.

Uvulopalatopharyngoplasty (UPPP) is the surgery most often performed for sleep apnea syndrome (SAS). However, good results with UPPP, demonstrated by polysomnography, have been reported in only 50% of cases. Failure of UPPP may be caused by: 1) bad management of the SAS, which is better treated in some patients with nasal CPAP than with surgery; and 2) an airway obstruction located not only at the palatopharynx (PP) level. Other surgical procedures to enlarge other sites of obstruction are described. Retro-tongue-base-pharynx (RTBP) surgery is emphasized, including mandibular advancement, hyoid bone suspension, and tongue base reduction. Maxillomandibular advancement is the most efficient technique but also the most complicated.

Sphenochoanal polyp in children. Diagnosis and treatment.

Two cases of sphenochoanal polyp (SCP) in children are reported. SCPs originate in the sphenoid sinus cavity, and extend into the choanal via the ostium. Symptoms associated with the syndrome include nasal blockage and headaches. Endoscopical examination reveals the presence of a choanal polyp, and the sphenoid origin of the polyp can be determined by CT scan. In cases where the middle meatus is obstructed, an opacity of the maxillary sinus is often observed. SCPs cannot be distinguished from antrochoanal polyp (ACP) by histological means. The treatment of the SCPs involves surgical removal and enlargement of the sphenoid sinus ostium. Ignorance surrounding the existence and the treatment of this syndrome may result in insufficient treatment and the consequent recurrence of the disorder.