[Pseudo-adult Still's disease, anasarca, thrombotic thrombocytopenic purpura and dysautonomia: An atypical presentation of multicentric Castleman's disease. Discussion of TAFRO syndrome]. / Pseudo-maladie de Still, anasarque, microangiopathie thrombotique et dysautonomie : présentation atypique d'une maladie de Castleman multicentrique. Discussion du syndrome TAFRO.

INTRODUCTION: Multicentric Castleman's disease can mimic adult-onset Still disease. It is exceptionally associated with anasarca, thrombotic microangiopathy and dysautonomia. CASE REPORT: We report a 32-year-old woman with an association of oligoanuria, anasarca, thrombotic microangiopathy with features compatible with adult-onset Still disease. The outcome was initially favorable with corticosteroids, immunoglobulins and plasmapheresis but with the persistence of relapses marked by severe autonomic syndrome and necessity of high dose corticosteroids. The diagnosis of mixed type Castleman's disease, HHV8 and HIV negative, was obtained four years after the onset of symptoms by a lymph node biopsy. The outcome was favorable after tocilizumab and corticosteroids but tocilizumab had to be switched to anakinra to ensure a proper and long-lasting control of the disease. CONCLUSION: Our patient partially fits the description of TAFRO syndrome (Thrombocytopenia, Anasarca, myeloFibrosis, Renal dysfunction, Organomegaly), a MCM rare variant, recently described in Japanese patients.

[Diagnostic performance of EBUS-TBNA in patients with mediastinal lymphadenopathy and extrathoracic malignancy]. / Performance diagnostique de l'EBUS-PTBA chez des patients aux antécédents néoplasiques extrapulmonaires adressés pour adénopathies médiastinales.

INTRODUCTION: There is limited data about the diagnostic performance of EBUS-TBNA in patients with mediastinal lymphadenopathy and extrathoracic malignancy. METHODS: From January 2007 to July 2011, EBUS-TBNA was performed in 68 patients with a history of extrathoracic malignancy (current or past) and suspected mediastinal lymph node metastases. RESULTS: Thirty-one patients had a final diagnosis of cancer. In nineteen patients, the same histology was identified in the mediastinal nodes as in their prior extrathoracic cancer (colorectal cancer, esophageal cancer and lymphoma). In 12, the diagnosis was not "as expected" (ten lung cancers, one colorectal cancer, one unidentified cancer). Among 37 patients without diagnosis, biopsies in 27 showed normal lymphoid material, two had non-specific inflammation and eight had no contributory results. It was noted that procedures were reported to have been more difficult in these patients. CONCLUSIONS: Diagnostic performance of EBUS-TBNA in the context of extrathoracic malignancy is very variable depending on the origin of the cancer. Nevertheless, a diagnosis is concluded in almost 50% of the cases. These results underline the necessity to select carefully the indications of EBUS-TBNA in extrathoracic cancer.

[Feasibility of assessing EGFR mutation and others using samples obtained by EBUS transbronchial needle aspiration]. / Faisabilité de la recherche de mutations EGFR et KRAS sur des prélèvements obtenus par EBUS-PTBA.

INTRODUCTION: Assessment of mutation status in patients with non-small cell lung cancer (NSCLC) is often required. The aim of this study was to confirm the feasibility of molecular mutation analysis in cytologic specimens obtained by endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA). METHODS: Patients with an EBUS-TBNA positive for adenocarcinoma or NSCLC (squamous cell carcinoma excluded) were included retrospectively from January to December 2010, and prospectively from January to August 2011. Specimens were collected on liquid based preparation and processed on paraffin-embedded cell blocks after ThinPrepÒ procedure. Molecular analysis was performed by a SnaPshot assay for EGFR and by pyrosequencing for KRAS on suitable samples (>5% tumor cells). RESULTS: Eighty-two patients were included (63 adenocarcinoma). Molecular analysis for EGFR was feasible in 80 (97.6%) patients and for KRAS in 78 (95.1%) patients. Molecular analysis identified EGFR and KRAS mutations in tumor samples from four (5%) and 18 (23%) patients respectively. All EGFR mutations were found in women. CONCLUSIONS: Molecular analysis mutations can be performed routinely in cytologic specimens obtained by EBUS-TBNA.

[Castleman's disease: unusual presentation of Castleman's disease and review of literature]. / La maladie de Castleman : observations inhabituelles et revue de la littérature.

Castleman disease is a rare disorder of the lymphoid system which can be classified into two clinical groups, monocentric disease versus multicentric disease, and two histological types, the hyaline vascular form versus the plasma cell form. We report three cases of monocentric Castleman disease. The first one is a classical form of Castleman's disease. The second one is characterized by an uncommon radiological presentation, with a calcification within the tumor. The third one is a plasma cell form with monoclonal proliferation associated with a monoclonal gammapathy. These three cases highlight the polymorphic clinical and radiological features of Castleman disease. They underlie the difficulty of surgical resection due to the tumor vascularization. Other diagnosis hypothesis and associated diseases will also be discussed (HIV, Kaposi's sarcoma, POEMS syndrome).

[Merkel cell carcinoma: a new radiation-induced cancer?]. / Carcinome de Merkel : un nouveau cancer radio-induit ?

BACKGROUND: Merkel cell carcinoma (MCC), a rare and aggressive neuroendocrine tumour, appears primarily on sun-exposed areas in light-skinned elderly subjects. UV exposure and profound immunosuppression (particularly in a setting of solid organ transplantation, haematological malignancies, HIV) constitute the principal risk factors. The aetiopathogenesis of this cancer is not known, although a polyomavirus involved in the oncogenic process was recently discovered. The carcinogenic effect of ionizing radiation, while not clearly established, has been suspected in rare cases involving the onset of MCC in irradiated zones. We report a new case of case of MCC in a patient previously undergoing radiotherapy. CASE REPORT: A 59-year-old-man underwent radiotherapy for a Darier-Ferrand dermatofibrosarcoma on the left shoulder and developed MCC at the same site 38 years later. DISCUSSION: The time between radiotherapy and diagnosis of MCC, its site within the radiation field (radio-dermatitis), the description of similar cases in the literature concerning the onset of MCC in irradiated areas, and the known carcinogenic effects of ionizing radiation all militate strongly in favour of the radiation-induced nature of MCC.

[Chronic lymphocytic leukaemia presenting with specific cutaneous infiltrates in the absence of lymphocytosis: Two cases]. / Leucémie lymphoïde chronique révélée par des infiltrats cutanés spécifiques en l'absence d'hyperlymphocytose : deux observations.

BACKGROUND: Specific cutaneous infiltrates of chronic lymphocytic leukaemia (CLL) are rare. They occur after a mean disease duration of 3 years. CLL skin infiltrates as the primary manifestation of the disease have been reported, but a normal lymphocyte count at diagnosis is rare. We present two cases of CLL initially presenting in the skin, without lymphocytosis. PATIENTS AND METHODS: A 53-year-old man developed papulonodular lesions of the face and infiltrated plaques of the scalp, and an 85-year-old woman presented erythematous nodules of the face and neck. Histopathology revealed a lymphocytic infiltrate, consisting of small mature B-cells CD20+, CD79+, with an aberrant phenotype CD5+. CD23 was positive in one case. The two patients had no lymphocytosis, but immunophenotyping was characteristic of CLL. In the second case, there was a sub-mental adenopathy, histologic analysis of which was consistent with CLL. The CLL was classified as Binet stage A in the two cases. No disease progression was noted at follow-up. DISCUSSION: The unusual feature of these cases is the lack of lymphocytosis at diagnosis. Thus, the skin lesions resulted in further evaluations for CLL, although the diagnosis was not suggested by the blood count. CONCLUSION: Skin involvement in CLL does not appear to be a poor prognostic indicator, arguing in favour of recruitment of circulating monoclonal B-cells rather than an additional tumour mass.

[Pleuro-pulmonary metastases from a malignant mesothelioma of the tunica vaginalis]. / Métastases pleuropulmonaires d'un mésothéliome de la vaginale testiculaire.

INTRODUCTION: Mesothelioma is a malignant tumour of the serous membranes that principally affects the pleura. Peritoneal, pericardial and tunica vaginalis mesothelioma are very rare. CASE REPORT: We report the case of a 65-year-old male with malignant mesothelioma of the tunica vaginalis (MTV). He presented with several local recurrences and, five years after the initial surgery, with pulmonary nodules and a pleural effusion. Pleural biopsies confirmed epithelioid mesothelioma. A diagnosis of pleuro-pulmonary metastases from previous malignant MTV was made. CONCLUSIONS: Malignant MTV is a rare and aggressive tumor with frequent local recurrences and, rarely, visceral metastases. This case report emphasizes the difficulties of the differential diagnosis between pleural mesothelioma and pleural metastases from MTV. The lack of any treatment for metastatic malignant MTV is discussed.

[Benign trachobronchial schwannoma treated by complete endoscopic resection followed by cryotherapy]. / Schwannome trachéal bénin traité par exérèse endoscopique et cryocoagulation.

INTRODUCTION: Tracheobronchial schwannoma is a rare benign airway tumour. There is no evidence to guide treatment for this condition. CASE REPORT: A 76-year-old woman with a history of ischemic cardiomyopathy was hospitalized for dyspnoea with bronchial symptoms. Incidentally, the CT scan of the chest identified a tracheal mass. The bronchoscopy revealed a multilobar and regular whitish tumour with moderate vascularisation that was not causing obstruction. The patient was treated by complete resection with a rigid bronchoscope followed by cryotherapy. The histopathologic diagnosis was of a benign schwannoma without malignant elements. There was no recurrence during the follow-up period. CONCLUSIONS: There is no consensus as to the optimal management of tracheal schwannoma because of the rarity of this tumour. Our observation supports the use of endoscopic resection with the additional of local cryotherapy which may reduce the risk of recurrence.

Diagnosis of invasive aspergillosis using bronchoalveolar lavage in haematology patients: influence of bronchoalveolar lavage human DNA content on real-time PCR performance.

In order to improve invasive pulmonary aspergillosis (IPA) diagnosis, a real-time polymerase chain reaction (PCR) assay detecting Aspergillus spp. was developed. Its detection limit reached 2-20 conidia. The retrospective evaluation on 64 bronchoalveolar lavage (BAL) fluids from 57 patients at risk for IPA, including 20 probable and five proven IPA patients, revealed a 88% or 38% sensitivity in direct examination (DE)/culture-positive or culture-negative BAL, respectively, whereas galactomannan (GM) sensitivity reached 88% or 58%, respectively. Influence on the Aspergillus-PCR yield of BAL fluid volume, cellular count and DNA content (evaluated by human beta-globin quantification) was assessed. Significantly higher beta-globin levels were detected in Aspergillus PCR-positive (median 5,112 pg/microl) than negative (median 1,332 pg/microl) BAL fluids, suggesting that the beta-globin level could reflect BAL yields and DNA extraction. Using beta-globin for the interpretation of fungal PCR could improve the negative predictive value of this test.

Electromagnetic navigation diagnostic bronchoscopy for small peripheral lung lesions.

The present study prospectively evaluated the diagnostic yield and safety of electromagnetic navigation-guided bronchoscopy biopsy, for small peripheral lung lesions in patients where standard techniques were nondiagnostic. The study was conducted in a tertiary medical centre on 40 consecutive patients considered unsuitable for straightforward surgery or computed tomography (CT)-guided transthoracic needle aspiration biopsy, due to comorbidities. The lung lesion diameter was mean+/-sem 23.5+/-1.5 mm and the depth from the visceral-costal pleura was 14.9+/-2 mm. Navigation was facilitated by an electromagnetic tracking system which could detect a position sensor incorporated into a flexible catheter advanced through a bronchoscope. Information obtained during bronchoscopy was superimposed on previously acquired CT data. Divergence between CT data and data obtained during bronchoscopy was calculated by the system's software as a measure of navigational accuracy. All but one of the target lesions was reached and the overall diagnostic yield was 62.5% (25-40). Diagnostic yield was significantly affected by CT-to-body divergence; yield was 77.2% when estimated divergence was