Primary intracranial germinomas (PIGs) are an extremely rare entity with usual location in the pineal and suprasellar regions. Adult cases are rare since they are commonly diagnosed in the second decade of life. Diagnosis is based on specific imaging features in addition to tumor markers, cerebrospinal fluid cytology and stereotactic biopsy

Nuclear protein in testis (NUT) midline carcinoma (NMC) is a very rare and aggressive human cancer characterized by overexpression of the nuclear protein in testis (NUT) most commonly due to a chromosomal translocation that fuses the NUT gene on chromosome 15 with the BRD4 gene on chromosome19. It has been described mainly in younger individuals in the mediastinum and head and neck regions and known to be highly aggressive with poor outcomes. We report the case of 23 years old male, diagnosed with locally advanced mediastinal malignancy metastatic to the lung with elevated serum alpha-fetoprotein (AFP) suggestive of germ cell tumor. However, pathology with immunohistochemistry excluded the dignosis of germ cell tumor and confirmed the diagnosis of poorly differentiated carcinoma. Despite aggressive treatment, evolution was marked by rapid clinical deterioration leading to death within 1 month of initial diagnosis. We report this case to underline the rarity of this disease, clinico-radiological and pathologic features, especially misleading presentation with germ cell tumors, treatment management and prognosis.

Les oligodendrogliomes se distinguent des autres tumeurs gliales par la présence de délétions récurrentes des chromosomes 1p et 19q. En effet, dans la version révisée 2016 de la classification de l’Organisation mondiale de la santé (OMS), la co-délétion 1p/19q sert de marqueur biologique de diagnostic qui, conjointement avec les mutations IDH, définit les groupes d’oligodendrogliomes de grade II et III. L’expression de l’alpha-internexine (INA) a été proposée comme un marqueur de substitution à la codélétion 1p/19q, avec des sensibilités et des spécificités variables selon les études. Le but de cette étude est d’évaluer la présence et la fréquence de ces biomarqueurs (1p/19q, IDH, INA) chez des patients marocains porteurs d’oligodendrogliomes dans la région Nord-Est du Maroc. L’intégration de ces marqueurs moléculaires est essentielle pour une meilleure classification et par conséquent une meilleure prise en charge de ces tumeurs. Il s’agit d’une étude rétrospective étalée sur une période de six ans entre janvier 2010 et décembre 2015. Une série de 40 cas de gliomes à composante oligodendrogliale a été étudiée, par Hybridation in situ fluorescente (FISH), à la recherche de la codélétion 1p/19q. L’immunohistochimie est réalisée sur la même série en utilisant un anticorps monoclonal spécifiquement dirigé contre l’INA. La comparaison des résultats des deux techniques permettra de tester la spécificité et la sensibilité de cet anticorps. L’ensemble de ces tumeurs a été également sujet à une étude moléculaire à la recherche des mutations touchant les gènes IDH1 et IDH2. Les patients inclus dans l’étude comprennent 26 hommes et 14 femmes, âgés de 3 à 72 ans avec une moyenne de 40 ans. L’immunomarquage de l’INA, fortement corrélé à la présence de codélétion 1p/19q, a été positif dans 35 des 40 patients présentant un gliome à composante oligodendrogliale (Résultat préliminaire). La technique FISH a été adaptée aux tumeurs cérébrales et validée par un laboratoire international. Quatre cas de co-délétion 1p/19q ont été identifiés après observation d’au moins 200 noyaux interphasiques et calcul des ratios 1p/1q et 19q/19p qui doivent être inférieurs à 0,7 et 0,8 respectivement. La technique est encore en cours de progression. Les mutations du gène IDH1 ont été mises en évidence par PCR/séquençage dans 30 des 40 tumeurs analysées. Un seul cas de mutation IDH2 a été détecté dans un oligodendrogliome de grade III (Étude en cours). L’évaluation de l’état moléculaire de 1p et 19q et des gènes IDH est un outil de diagnostic, de pronostic et de prédiction majeure des tumeurs cérébrales oligodendrogliales. La FISH est la technique de référence pour déterminer les pertes alléliques 1p et 19q, mais vu ses difficultés techniques et son coût élevé, l’immunohistochimie reste le test de routine en neuropathologie.

Introduction: Anorectal location of melanomas is rare and aggressive. The discovery that the KIT oncogene may be aberrantly activated in a subset of patients creates a realm of possibility for the development of targeted molecular therapy. The aim is to show the epidemiologic, clinico-radiological, histological features and treatment management especially in patients with over-expression of CKIT treated by Imatinib. Methods: Retrospective study conducted in medical oncology department at Hassan II University Hospital, Fez, Morocco, between January 2007 and January 2014, including patients with anorectal melanoma. CKIT Assessment was performed in all patients. Results: Twenty patients were collected, 11 men and 9 women, the mean age was 57 years (45-81ans). The symptoms were mainly rectal bleeding, proctalgia, rectal syndrome, and transit disorders. Colonoscopy was performed in all cases and revealed a circumferential non-pigmented burgeoning tumor in all cases and stenotic tumor in 17 cases. The radiological assessment included a thoraco-abdomino-pelvic scan in all cases and 13 patients underwent a pelvic MRI. Seventeen patients had a metastatic disease at the diagnosis, sites of metastases were: liver, lymph node and lung. Only three patients were not metastatic, and proceeded to surgery, they underwent an abdomino-perineal resection with lymphadenectomy; but the evolution was marked by occurrence of pulmonary and hepatic metastases less than 12 months later. First-line chemotherapy was received in all patients; it was based mainly on paclitaxel, carboplatin and dacarbazine, with only 5 partial responses, 6 disease stabilities, and 9 patients with disease progression. Five patients had over-expression of CKIT and they received Imatinib as second line of treatment with significant improvement of symptoms and significant radiological response in all patients reaching 60%. Their median survival was 14,3 months vs 10 months for patients without CKIT overexpression. Conclusion: Anorectal melanoma is an aggressive rare cancer. The prognosis remains poor for metastatic stage despite the systemic therapy. Treatment is still big challenge. Results of targeting CKIT with Imatinib were very hopeful and encouraging to develop new targets.

L'incidence annuelle des gliomes est estimée à 5–6 cas pour 100 000. Le diagnostic repose principalement sur la classification de l'OMS 2007, qui souffre d'un manque de précision et de reproductibilité. Actuellement, la recherche d'altérations génétiques dans les gliomes montre un rôle potentiel dans le diagnostic, le pronostic et la réponse au traitement. Le but de cette étude est d'évaluer la présence et la fréquence de certains biomarqueurs génétiques dans les gliomes. Au total, 99 échantillons de tumeurs ont été utilisés pour cette étude. Ils ont été obtenus à partir de patients diagnostiqués avec un gliome au Centre hospitalier universitaire Hassan II de Fès entre janvier 2010 et décembre 2013. L'immuno-histochimie a été réalisée avec l'anticorps dirigé contre l'internexine alpha (INA) et qui est utilisé comme marqueur de substitution de la codélétion 1p/19q dans les oligodendrogliomes. L'ADN a été extrait pour analyse moléculaire. Une Q-PCR a été réalisée pour étudier l'amplification des gènes EGFR et MDM2 dans les glioblastomes. La détection des mutations des gènes IDH1 et IDH2 dans les gliomes diffus s'est basée sur les techniques classiques du séquençage de Sanger. Notre population d'étude se compose de 99 patients (60 hommes et 39 femmes). L'âge moyen est de 38 ans avec des extrêmes de 3 à 90 ans. Un immunomarquage positif de l'INA a été retrouvé chez 11 des 15 patients présentant une tumeur oligodendrogliale. Nous avons identifié les mutations du gène IDH1 dans 43 cas tandis qu'une seule mutation du gène IDH2 a été détectée dans un oligodendrogliome anaplasique. L'identification de l'amplification des gènes EGFR et MDM2 par la technique de Q-PCR est toujours en cours de réalisation. De nombreuses études ont démontré que le sous-typage génétique d'un phénotype histologique donné avec des biomarqueurs robustes peut améliorer le diagnostic et le pronostic. Les marqueurs moléculaires typiques des glioblastomes primaires sont l'amplification des gènes EGFR et MDM2. Les altérations génétiques les plus courantes dans les glioblastomes secondaires et les autres gliomes diffus comprennent la mutation TP53, la codélétion 1p/19q et les mutations IDH. Notre étude portera essentiellement sur l'identification de ces marqueurs et leurs fréquences. Ces données doivent être comparées avec la littérature. La nouvelle technologie moléculaire a permis une meilleure classification des gliomes basée sur l'altération de gènes spécifiques pour chaque sous-type de tumeur. Ces marqueurs moléculaires sont nécessaires pour une différenciation précise et objective et par conséquent pour une thérapie plus ciblée.

Primary leiomyosarcoma of the kidney is a rare tumor with an aggressive behavior. However, reported literature is very limited. We report a case of renal leiomyosarcoma in a 46 years old woman presenting with a left sided abdominal mass. Computed tomography scan of the abdomen revealed the mass to be renal in origin and involving the ipsilateral renal hilus and vein. Microscopy reflected a malignant spindle cell neoplasm which showed strong reactivity for smoot h muscle actin with negative epithelial markers, thereby confirming the diagnosis of renal leiomyosarcoma. Induction chemotherapy was indicated. After two cycles, the patient died of disease progression. Renal leiomyosarcomas have a very poor prognosis, ra dical nephrectomy should be the primary therapeutic method to offer the best chances of cure.

Epidermal cysts are more common above the shoulder and within the face and scalp. The authors report a case of giant presternal dermoid cyst in a 25 year old man. The case illustrates that dermoid cysts can appear in atypical location. Dermoid cysts should be considered in the differential diagnosis of midsternal lesions regardless of the size and imaging characteristics.

Methemoglobinemia is a side effect of Dapsone (4, 4 diaminodiphenylsulfone or DDS) observed following therapeutic dose administration or after an accidental overdose incidentally with hemolysis causing suffering hypoxic. About an observation, we recall the main clinical, toxicological and therapeutic characteristics of overdose with Dapsone. An elderly man of 30 years, without significant medical history, was hospitalized in the department of dermatology for extensive bullous dermatosis. The patient was treated orally with 2mg/kg daily (150mg per day) of DDS. Accidentally, he took 450mg, 3 times per day for 5 days. On the sixth day, the patient presented a mucocutaneous pallor, cyanosis of the extremities and lips and tachycardia of 160 beat / min. The dosage of methemoglobinemia by spectrophotometry objectified a value of 26%. Medical decision was to stop the DDS and put the patient on oxygen therapy and in vitamin C orally with 3 g per day. Methemoglobinemia analysis performed 2 days after was 19% with regression of clinical signs. Regular monitoring of methemoglobinemia showed degression values ranging from 11.8% to 3.3% at tenth day after accidental overdose. The outcome was favorable and the patient was supported in dermatological consultation. Methemoglobinemia is an expected side effect of Dapsone. Its reduction by the methylene blue is indicated for levels above 30% or when it is poorly tolerated. Its evolution is extended due to the long half- life of the toxicant.

The dichlorophenoxyacetic acid (2, 4 D) is a systemic herbicide, belonging to the group of phytohormones. Its ingestion with suicidal intent can cause severe poisoning and death. We report two cases of deliberate intoxication by (2 4 D) complicated by refractory shock leading to death after 24 hours of the poisoning. A 32 year old men treated for depression, was admitted to the emergency department for a deliberate intoxication by herbicides five hours ago. The examination at admission showed an unconscious patient (GCS=8) with myosis, fever 40 °C, tachypnea 36 C/ min with tracheobronchial congestion and pulmonary rales sounding both hemifields, systolic blood pressure was at 80 mmHg, requiring intravenous fluids. Laboratory tests revealed rhabdomyolysis with CPK at 19366μg/l (113 times normal), a positive troponin 0.7 ng/ml, renal failure (urea 1,23 g/l, creatinine 26 mg/l), metabolic acidosis (pH 7.19, bicarbonate levels to 9 mEq/l) and decreased prothrombin time (PT 49 %). Toxicological analysis revealed 2, 4 D in the urines and blood. Echocardiography has objectified a normal left of ventricular size with preserved systolic function and hyperkinetic. Despite a blood filling with vasoactive drugs (norepinephrine up to 1 μg/kg/min), the hemodynamic status deteriorated rapidly with persistence of severe acidosis, leading to death 24 hours after admission. F C aged 19 years old women; unmarried with no pathological history, pregnant at 21 weeks of gestation with a concept of poisoning. She presented generalized tonic-clonic seizures without recovery of consciousness in inter-critical. At admission, the examination objectified an unconscious patient with GCS at 9, blood pressure at 120/70 mmHg; a fever, gynecological exam was normal; otherwise neurological examination has objectified hypotonia of four members with osteotendinous reflexes vivid. Laboratory tests has showed a reduced kidney function (urea at 0,79 g/l and creatinine at 16 mg/l), CPK 903μg/l, a negative troponin. The initial toxicology research by colorimetric and immunochromatographic method was negative. A MRI was normal. The patient was then expelled a dead fetus born with aggravation of renal function (urea at 1,36 g/l and creatinine at 19 mg/l) and rhabdomyolysis, CPK at 4000 μg/l and troponin at 3 ng/ml. A toxicological screening by HPLC DAD revealed the presence of a 2-4 D in the blood and urine. The evolution was marked by hemodynamic status deteriorated with severe acidosis leading to death of the patient. 2-4D poisoning is rare; it is responsible for a high mortality rate. In our context, the commercial availability of this product becomes worrying, justifying the use of a wide prevention program to inform the public and the authorities of the danger of this herbicide.

Objective. - Breast cancer occurring in young women is rare with epidemiological, diagnostic and prognostic characteristics of their own. It is more often linked to genetic predisposition and especially correlated with a lower survival and higher rates of recidivism. The aim of the study was to analyze epidemiological, clinicopathological, biological and evolutionary characteristics.Patients and methods. - It is a retrospective study concerning 74 patients aged 35 and younger, in whom a diagnosis of invasive breast cancer was made between September 2004 and December 2009.Results. - Incidence of breast cancer in women aged under 35 in our series was 18.6%, mean age was 30.62 years and five patients (6.75%) had a family history of breast cancer. The mean tumor size was 3.9 +/- 2.6 cm; 45.4% of tumors were locally advanced. It was an infiltrating ductal carcinoma of grade III of Scarff-Bloom and Richardson (SBR) in 45.7% cases and half the time it was accompanied by an axillary lymph node involvement. Negative hormone receptor (HR-) was found in only 28.7% of cases and 13 cases overexpressed Her2. Eighteen percent of the tumors were classified as triple negative. The overall survival at 3 years was 87.8%.Discussion and conclusion. - The incidence of breast cancer in young Moroccan patients is high. In our context, it is distinguished by a delayed diagnosis explaining the advanced stage at diagnosis. Biological characteristics are often more aggressive, including high histological grade, lack of hormone receptors and the higher rate of triple negative tumours significantly reducing treatment options. (C) 2012 Published by Elsevier Masson SAS.

The pure embryonal rhabdomyosarcoma of the testis is a very rare entity, and an aggressive tumor of children and young adolescents. The paratesticular rhabdomyosarcoma is more common, and it develops from the mesenchymal tissue of the spermatic cord, epididymis, or tunica vaginalis. Pure testicular localization is rarely reported. We report a 17-year-old with a pure embryonal rhabdomyosarcoma of the testis which develops after orchidectomy and is a rapid local recurrence. In light of this case report, we discuss the diagnostic, risk of recurrence, and the management of this particular case.

Si la toxicité des thérapies ciblées anticancéreuses sur la muqueuse buccale apparaît relativement fréquente en pratique clinique, elle n’a pas été vraiment caractérisée jusqu’ici, en dehors des ulcérations aphtoïdes des inhibiteurs mTOR. Nous rapportons ici les principales manifestations endobuccales de ces nouveaux traitements, en décrivant les présentations cliniques les plus fréquentes mais aussi les plus caractéristiques de ces molécules, comme les mucites induites par les anti-EGFR, les hyperkératoses sous inhibiteurs de BRAF, les glossites migratrices bénignes et les ostéonécroses de la mâchoire observées avec les anti-angiogéniques, ou les lésions plus spécifiques à l’imatinib.While toxicity of targeted anticancer therapies on the oral mucosa seems relatively frequent in clinical practice, it has not been properly characterized to date, apart from aphthous-like lesions due to mTOR inhibitors. Herein, we report the main oral lesions associated with these new therapies, with a description of the most frequent but also the most characteristic clinical manifestations of these drugs, such as anti-EGFR-induced mucositis, BRAF-inhibitor-associated hyperkeratosis, benign migratory glossitis and osteonecrosis of the jaw observed with angiogenesis inhibitors, as well as lesions more specifically linked with imatinib.

Gestationis pemphigoid is an autoimmune subepidermal blistering dermatosis occurring predominantly in pregnancy, more seldom in early puerperium, and exceptionally in post-abortion. The association of gestationis pemphigoid with choriocarcinoma is extremely rare. We report this association in a patient of 35 years in which the diagnosis of gestationis pemphigoid was made on clinical, histological and immunological criteria, and the one of choriocarcinoma was made on clinical, biological radiological and histological criteria. Through this article, we put the item on this association reported for the first time in post-abortion.

Introduction Papaver somniferum L. or opium poppy also known in Morocco as “KHERCHACHA” is one of the most used plant in traditional medicine for ritual, prophylactic and therapeutic purposes. we report two cas of poisoning by Papaver somniferum L. Cases reports Twin male infants, aged two months, coming from healthy pregnancy and delivery, were admitted to the emergency for breathing difficulty with cyanosis of the extremities. Clinical exam in admission found respiratory distress with respiratory pause in two infants. One of them had in addition an obnubilation and pupils in bilateral myosis. The interrogation had found the concept of administration of opium poppy for the two children to calm them down and make them sleep. Biological and radiological tests were normal. The toxicological analysis of urine was positive for opiates. Both brothers received symptomatic treatment with favorable outcome. Conclusion Poisoning poppy poisoning remains one of the most dangerous plants. In our context, its use in infants remains an aggravating aspect that requires information and education of mothers. The physicians should be aware of this type of poisoning.

L'anévrysme du septum inter auriculaire (ASIA) est une entité rare, bien reconnue, caractérisée par une malformation du septum interauriculaire avec un bombement passif de ce dernier entre les faces auriculaires droites et gauches. Le diagnostic est établi par l'échographie transthoracique et transœsophagienne couplée à l'épreuve de contraste à la recherche d'un foramen ovale perméable (FOP) souvent associé. L'ASIA est considéré comme une anomalie bénigne mais associée à un risque d'accidents emboliques cérébraux et systémiques non négligeable. Nous rapportons un cas unique d'un ASIA isolé compliqué d'une ischémie digitale chez une patiente de 51 ans.An atrial septal aneurysm (ASA) is a rare but well recognized entity characterized by saccular deformity of the atrial septum that bulges into the right or left atrium. Diagnosis can be established using transthoracic and transesophageal echocardiography. Although this abnormality is considered clinically benign, it has been independently associated with systemic or cerebral embolism. We present a unique case of isolated atrial septal aneurysm complicated by digital ischemia in a 51 years old woman.

L’intoxication à la vitamine D est une cause rare mais grave de l’hypercalcémie chez le nouveau-né et le petit nourrisson. À travers neuf observations d’hypercalcémie chez des nouveau-nés ayant reçu par voie orale 600 000 unités de la vitamine D2 (Stérogyl®), une revue des besoins en vitamine D et les mécanismes possibles d’intoxication notamment la part de l’hypersensibilité à cette vitamine vont être discutés. Nous rapportons 9 observations de nouveau-nés admis entre les âges de 25 et 105 jours pour prise en charge d’une déshydratation sévère. Les signes cliniques étaient dominés par la perte de poids, les vomissements et la fièvre. L’estimation initiale de la déshydratation était entre 8 et 15 %. Chez tous ces nourrissons, le bilan biologique avait objectivé une hypercalcémie entre 113 et 235 mg/L, une hypercalciurie (ratio calcium/créatinine urinaire >0,5). Le dosage de la 25-(OH) vitamine D avait révélé des taux toxiques entre 344 et 749 nmol/L. À l’échographie abdomino-rénale, il existait une néphrocalcinose chez 7 enfants. L’étude du gène de la vitamine D 24-hydroxylase (CYP24A1), réalisée chez huit enfants, était normale. Après réhydratation intraveineuse et traitement de l’hypercalcémie, la calcémie s’était normalisée en 4 à 50 jours. L’évolution à moyen terme, avec un recul de 2 ans pour le plus ancien, montrait la persistance des images de néphrocalcinose. Une sensibilité génétique et des différences métaboliques semblent moduler les seuils de toxicité de la vitamine D. Cependant, le respect des doses recommandées diminue le risque de toxicité.