The first comprehensive genomic characterization of rectal squamous cell carcinoma.

BACKGROUND: Rectal cancers represent 35% of colorectal cancers; 90% are adenocarcinomas, while squamous cell carcinoma accounts for 0.3% of them. Given its rarity, little is known concerning its pathogenesis, molecular profile and therapeutic management. The current treatment trend is to treat rectal squamous cell carcinoma by analogy to anal squamous cell carcinoma with definitive chemo-radiotherapy, setting aside surgery in case of local recurrence. METHODS: We performed an in-depth genomic analysis (next-generation sequencing, copy number variation, and human papilloma virus characterization) on 10 rectal squamous cell carcinoma samples and compared them in silico to those of anal squamous cell carcinoma and rectal adenocarcinoma. RESULTS: Rectal squamous cell carcinoma shows 100% HPV positivity. It has a mutational (PIK3CA, PTEN, TP53, ATM, BCL6, SOX2) and copy number variation profile (3p, 10p, 10q, 16q deletion and 1q, 3q, 5p, 8q, 20p gain) similar to anal squamous cell carcinoma. PI3K/Akt/mTOR is the most commonly affected signaling pathway similarly to anal squamous cell carcinoma. Most commonly gained or lost genes seen in rectal adenocarcinoma (FLT3, CDX2, GNAS, BCL2, SMAD4, MALT1) are not found in rectal squamous cell carcinoma. CONCLUSION: This study presents the first comprehensive genomic characterization of rectal squamous cell carcinoma. We confirm the existence of this rare histology and its molecular similarity with anal squamous cell carcinoma. This molecular proximity confirms the adequacy of therapeutic management based on histology and not localization, suggesting that rectal squamous cell carcinoma should be treated like anal squamous cell carcinoma and not as a rectal adenocarcinoma.

Degenerated Serous Cystic Tumor of the Pancreas: Case Report and Literature Review of an Aggressive Presentation of a Benign Tumor.

BACKGROUND Serous cystic tumors of the pancreas are known to present a benign nature and course, not requiring surgery in the absence of symptoms. In rare cases, these benign tumors may present aggressive characteristics such as local infiltration and lymph node and distant metastases. In such cases, a surgical approach may be necessary. CASE REPORT We present the case of a 79-year-old woman with an asymptomatic cytologically suggested caudal serous cystic tumor infiltrating the spleen and the splenic vein. This tumor was discovered in a computed tomography scan in the setting of evaluating distant spreading of a primary malignant neoplasm of the rectum. Suspicious malignant signs on imaging dictated a surgical approach and a distal splenopancreatectomy was carried out in the same operative time as the transanal resection of the rectal lesion. The nature of the pancreatic neoplasm was confirmed by histology, but 2 lymph nodes out of 4 retrieved were positive. The postoperative course was uneventful. No adjuvant treatment was proposed. Imaging control 6 months after surgery was not indicative of relapse. CONCLUSIONS Serous cystic adenomas of the pancreas, although generally considered benign neoplasms, may present with characteristics of malignancy. Moreover, they may prove difficult to differentiate from other malignant neoplasms by non-surgical modalities. Although current guidelines and data from the literature provide controversial information regarding management of these clinical entities, in the presence of suspicious radiological aspects, surgical resection could be considered.

Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related disease.

BACKGROUND: Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis with slow progression over the years that is particularly difficult to diagnose. CASES: Here we report three cases of ECD without BRAF mutation presenting with a renal mass, hairy kidney appearance, and a rather benign course, for which the diagnosis of ECD was delayed, characterized by multiple investigations and unsuccessful treatments attempts. In two cases the distinction from IgG4-related disease required multiple investigations and reevaluation of the clinical, radiological, histological, and immunological characteristics. CONCLUSION: A correct diagnosis of ECD may take several years and often requires revisiting previous hypotheses. Reassessment of histological slides and more modern complementary exams such as PET-CT or BRAF and MAPK-ERK mutation analysis can help to confirm the diagnosis of ECD and to select effective therapy.

Statin-induced autoimmune necrotizing myopathy with pharyngeal muscles involvement.

Statins are widely prescribed in the treatment of hypercholesterolemia. While their efficacy in the secondary prevention of vascular events is proven, their safety profile in older patients with multiple co-morbidities and polypharmacy remains questionable. Although rare, antihydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy is a severe adverse effect of statins, manifesting as myalgias, proximal muscle weakness, muscle cell necrosis and rhabdomyolysis. We report an uncommon case of an autopsy-proven anti-HMGCR necrotising myopathy predominately affecting pharyngeal muscles in an older patient, leading to dysphagia, pneumonia and death within 3 weeks from onset. Clinicians should screen for dysphagia in any patient with suspected anti-HMGCR myopathy, order an anti-HMGCR antibody titre and consider prompt immunosupressive therapy.

[Abecedary of colonic polyps]. / ABC des polypes coliques.

Colonic polyps are very common in the general population. Some polyps present a cancerization risk and their screening and management by endoscopy reduce the risk of colorectal cancer. Other polyps do not need specific follow-up. There are different types of polyps whose classification has been updated over the last ten years. Serrated polyps now intersect hyperplastic polyps, sessile serrated adenomas and traditional serrated adenomas. Current recommendations are to resect and histologically analyze each colonic polyp to define a personalized endoscopic surveillance strategy. Some colonic polyposis syndromes require management in a specialized center.

Les polypes coliques sont très fréquents dans la population générale. Certains sont à risque de cancérisation et leurs dépistage et prise en charge par le biais de l'endoscopie permettent une diminution du risque de cancer colorectal. D'autres ne nécessitent pas de surveillance. La classification des polypes a été remise à jour au cours de ces dix dernières années et, à côté des adénomes conventionnels, on reconnaît à présent les festonnés ou dentelés qui regroupent les polypes hyperplasiques, les adénomes dentelés sessiles et les dentelés traditionnels. Les recommandations actuelles sont de réséquer et d'analyser histologiquement chaque polype colique afin de définir une stratégie de surveillance endoscopique personnalisée. Certains syndromes dits de polypose colique nécessitent une prise en charge en centre spécialisé.

Tracheal agenesis: optimization of computed tomography diagnosis by airway ventilation.

Tracheal agenesis is a rare and often lethal congenital defect that leads to airway emergency at birth. Computed tomography (CT) is the modality of choice to evaluate anomalous tracheal anatomy. The absence of spontaneous aeration of the tracheobronchial tree in children with tracheal agenesis makes CT interpretation difficult. We describe a procedure of airway management applied in two newborns with suspected tracheal agenesis. Correct airway management was performed immediately prior to CT examination by airway ventilation, with bag-valve mask alone in one case, and attached to an endotracheal tube placed into the esophagus in the other case. The images allowed for classification of tracheal agenesis. Computed tomography with appropriate airway ventilation is fundamental for the diagnosis of tracheal agenesis.

Synovial sarcoma of the hypopharynx in a pediatric patient: Case report.

INTRODUCTION: Synovial sarcoma (SS) is uncommon high grade soft tissue sarcoma, accounting for less than 10% of all head and neck sarcomas. Also, about 10% of SS occur within the Head & Neck. In the pediatric population, SS is an extremely rare head & neck malignancy. PRESENTATION OF CASE: We present a case of sixteen years old boy diagnosed with SS situated of the hypopharynx treated by surgical excision and post operative radio-chemotherapy. DISCUSSION: This anatomical location brings additional functional challenges (swallowing, phonation, respiration), especially in the pediatric population. Pre-operative and even post-operative histopathological diagnosis of SS remains difficult. Optimal treatment of Head & Neck SS has to balance functional and oncologic aspects. CONCLUSION: SS is an extremely rare head & neck malignancy in pediatric population. It has multifaceted challenges including pre and post-operative histopathological diagnosis and optimal modality of treatment. Clinical judgment, especially in the pediatric population, needs to balance tumor free margins and organ preservation in head and neck region.

[The placenta : a new target organ for hypertension ?] / Le placenta : nouvel organe cible de l'hypertension artérielle ?

The placenta has generated many beliefs over centuries and in all ethnicities. Considered in our society as a surgical waste, it is elsewhere contemplated for its mysterious protective powers, viewed as the seat of the soul, disposed of, burnt or even buried. However, once time is taken for its examination, the placenta tells a story. Of interest is the similarity observed between placental vascular disease in hypertensive pregnancy and atherosclerosis in coronary artery disease for example. Hypertension in pregnancy is frequent and associated with increased adverse obstetrical outcomes, and long-term risk of cardiovascular and kidney disease. This article will discuss the role of placental histopathology in hypertensive pregnancies, its indicative value for long-term cardiovascular risk in mothers and for subsequent pregnancy.

De tout temps, le placenta a fait l'objet de croyances. Simple déchet anatomique dans nos sociétés, il est ailleurs le siège de l'âme, brûlé, jeté, enterré. Pourtant, si l'on prend la peine de l'examiner, le placenta nous raconte une histoire. En effet, on observe un mimétisme entre les atteintes artérielles placentaires des grossesses hypertensives et les lésions d'artériosclérose de la coronaropathie par exemple. Les grossesses hypertensives sont fréquentes, associées à court terme à un risque accru de complications obstétricales, et à long terme de maladies cardiovasculaires et rénales. Cet article se propose de discuter l'utilité de l'examen du placenta en cas d'hypertension, de sa valeur indicative sur la survenue d'événements cardiovasculaires à long terme chez la mère, et du risque sur le déroulement d'une grossesse ultérieure.