Search

Immunohistochemistry (IHC) and/or MSI-PCR (microsatellite instability-polymerase chain reaction) tests are performed routinely to detect mismatch repair deficiency (MMR-D). Classical MMR-D tumors present a loss of MLH1/PMS2 or MSH2/MSH6 with MSI-High. Other profiles of MMR-D tumors have been described but have been rarely studied. In this study, we established a classification of unusual MMR-D tumors and determined their frequency and clinical impact. All MMR-D tumors identified between 2007 and 2017 were selected. Any profile besides the classical MMR-D phenotype was defined as unusual. For patients with unusual MMR-D tumors, IHC, and PCR data were reviewed, the tumor mutation burden (TMB) was evaluated and clinical and genetic features were collected. Of the 4948 cases of MMR testing, 3800 had both the available IHC and MSI-PCR results and 585 of these had MMR-D. After reviewing the IHC and PCR, 21% of the cases initially identified as unusual MMR-D were reclassified, which resulted in a final identification of 89 unusual MMR-D tumors (15%). Unusual MMR-D tumors were more often associated with non-CRC than classical MMR-D tumors. Unusual MMR-D tumors were classified into four sub-groups: i) isolated loss of PMS2 or MSH6, ii) classical loss of MLH1/PMS2 or MSH2/MSH6 without MSI, iii) four MMR proteins retained with MSI and, iv) complex loss of MMR proteins, with clinical characteristics for each sub-group. TMB-high or -intermediate was shown in 96% of the cancers studied (24/25), which confirmed MMR deficiency. Genetic syndromes were identified in 44.9% (40/89) and 21.4% (106/496) of patients with unusual and classical MMR-D tumors, respectively (P

Endobronchial localizations of inflammatory myofibroblastic tumors are very unusual. We report the multimodal, bronchoscopic management of 3 cases, offering durable local control in all cases (including 2 patients who were definitively cured). Although surgery is usually considered the gold standard, therapeutic bronchoscopy should probably be considered as a frontline option for proximal lesions with limited base (

This document is a summary of the French Intergroup guidelines regarding the management of gastric cancer published in October 2016, available on the website of the French Society of Gastroenterology (SNFGE) (www.tncd.org), updated in October 2017.This collaborative work was realized under the auspices of several French medical societies involved in management of gastric cancer. Recommendations are graded in three categories (A-C), according to the amount of evidence found in the literature until July 2017.There are several known risk factors for gastric cancer, including Helicobacter pylori and genetic predispositions, both requiring a specific screening for patients and their relatives. The diagnosis and staging evaluation are essentially based on gastroscopy plus biopsies and computed tomography scan. The endoscopic ultrasonography can be used for superficial tumors in case of discussion for endoscopic resection (T1N0). For local disease (N+ and/or T T1), the strategic therapy is based on surgery associated with perioperative chemotherapy. In the absence of preoperative treatment (for any raison), the postoperative chemoradiotherapy (or chemotherapy) should be discussed for patients with stage II or III tumor. For metastatic disease, the treatment is based on "palliative" chemotherapy consisting in a doublet or triplet regimens depending of age, performance status and HER2 tumor status. For patients with limited metastatic disease, surgical resection could be discussed in multidisciplinary meeting in case of stable disease after chemotherapy.These guidelines in gastric cancer are done to help decision for daily clinical practice. These recommendations are permanently being reviewed. Each individual case must be discussed within a multidisciplinary team.

L’analyse cytologique des liquides de ponction (liquide cephalorachidien, liquide pleural ou liquide d’ascite) associee ou non a des techniques d’immunocytochimie, permet la detection de nombreuses pathologies tumorales. Toutefois, il est parfois necessaire de completer ces analyses. Au laboratoire, nous avons realise des hybridations in situ en fluorescence (FISH) sur des cytospins de liquides de ponction afin de confirmer un diagnostic ou de mettre en evidence des translocations pouvant faire beneficier le patient de traitements cibles. Le rearrangement du gene c-MYC a ainsi ete mis en evidence dans un liquide cephalo-rachidien d’une patiente atteinte d’un lymphome B diffus a grandes cellules ainsi que dans un liquide d’ascite d’un patient atteint d’un lymphome de Burkitt. Le rearrangement du gene ALK a ete mis en evidence dans le liquide d’ascite d’un patient presentant un adenocarcinome pulmonaire avec des metastases peritoneales. Cette recherche a ete effectuee car la tumeur primitive n’etait pas accessible, et a ainsi permis au patient de profiter d’une therapie ciblee. En conclusion, la detection de rearrangement de genes par FISH est possible sur un petit nombre de cellules tumorales contenues dans des liquides de ponction. Cette technique, realisee sur du materiel cytologique plus facile d’acces, offre la possibilite de poser le diagnostic sur le seul materiel cytologique et de gagner un temps precieux pour permettre aux patients d’acceder a des therapies ciblees.