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Salivary gland tumors represent a diagnostic challenge for pathologists due to their rarity, their very wide histopathological and immuno-phenotypic spectrum, and the recent identification of new entities. This article presents the main molecular characteristics of these tumors in order to allow any pathologist to perceive the diagnostic tracks of these ENT tumors and to better guide the molecular approach to establish the diagnosis and guide therapy., (Copyright © 2024. Published by Elsevier Masson SAS.)

The neuroepithelial tumor with PATZ1 fusion is a recently described tumor type, at the border between central nervous system and mesenchymal tumors. The histopathological diagnosis of this neoplasm, not recognized by the 2021 WHO classification, is challenging due to its varied and non-specific morphologic features. Most cases are densely cellular with monomorphous nuclei. Perivascular pseudo-rosettes of the ependymal type and astroblastic features are frequent. Blood vessels may be hyalinized. The tumor may display low- or high-grade features. OLIG2 and GFAP are variably expressed. Guided by DNA methylation profiling, a pathologist aware of this tumor type will search for a fusion involving PATZ1 and EWSR1 or MN1. The physiopathology of neuroepithelial tumor with PATZ1 fusion is not fully understood. The prognosis appears to align with that of intermediate-grade tumors but follow-up data are scarce. The therapeutic management is often similar to that of high-grade neoplasms. Nonetheless, PATZ1 fusion is a potential therapeutic avenue that may lead to personalized and less aggressive treatments., (Copyright © 2024. Published by Elsevier Masson SAS.)

Salivary gland-like tumours are described in the breast but remain very rare and difficult to diagnose in this location. Only 37 cases of mucoepidermoid carcinoma have been described in the literature. We report the challenging diagnosis of a mucoepidermoid carcinoma sampled by core biopsy in a 51-year-old woman., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Medical education is currently facing great changes that affect all medical specialties, including anatomical pathology. Due to rapidly increasing medical knowledge and diagnostic complexity, we are living an era of teaching resources mutualization. We present different tools that allow large numbers of students to access courses, self-evaluations, and competencies assessments. MOOC platforms and e-learning platforms are central to these new online tools, which include the French National Platform of Medical Specialties, dedicated to the teaching of 50,000 medical residents in France. We also discuss "serious games" and the use of images and virtual slides in anatomical pathology teaching. These new modalities can deliver essential knowledge to large student populations, but they must be used in conjunction with adapted teacher-led courses focusing on competencies and professional skills in order to be fully effective., (Copyright © 2018. Published by Elsevier Masson SAS.)

Our study aim is to assess the distribution of conjunctival eye lesions received in our institution between 01/01/1999 and 16/10/2010, in order to put forward the diagnostic difficulties associated with this location and the specific terms employed for ophthalmologic pathology. Twenty-one samples were analyzed. The non-tumoral lesions accounted for more than one half (pterygium, pinguecula, epithelial cyst, foreign body). The tumoral lesions were mainly represented by naevi. The naevi were characterized in this location by the presence of intralesional epithelial cysts, which distinguished them from primary acquired melanosis and melanoma. Only one case of papilloma was observed. In one fourth of the cases, the final pathological diagnosis was different from the clinical diagnosis. It seems legitimate to recommend a pathological analysis of conjunctiva lesions systematically., (Copyright © 2012 Elsevier Masson SAS. All rights reserved.)

We report a case of basaloid squamous carcinoma with a spindle cell component of the hypopharynx, in a 61-years-old-man. An excisional biopsy of a pedonculated and polypoid tumour was performed by endoscopy. The histologic examination revealed a biphasic tumour with both a basaloid carcinomatous and a spindle cell component. Focally, osseous metaplasia was seen. The spindle cell component demonstrated immunoreactivity with the p63 epithelial marker. The patient was treated with chemotherapy followed by radiotherapy. The patient has been free of disease for one year. It's the ninth case reported in the literature of a biphasic carcinoma with both a basaloid squamous and a spindle cell component and the first case with osseous metaplasia., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

A third case of corpus callosum hemangioblastoma (HB) is presented. With no preoperative embolization, surgery was uneventful and the postoperative course was excellent. Based on the literature, we attempted to clarify the histogenesis of HB and to explain why they are exceptional in the supratentorial region in contrast to the posterior cranial fossa. The VHL gene is expressed particularly in Purkinje cells of the cerebellum, but this expression is also possible in supratentorial structures. Its mutation leads to developmental arrest of angioblasts that become potentially neoplastic cells. These CD133-positive pluripotent neoplastic angioblasts, similar to stem cells, may be immature HB in the brain. They also express VEGF, coexpress Epo/EpoR, and are capable of differentiation into primitive vascular structures. This coexpression may not only mediate developmental stagnation, but may also induce HB proliferation. Therefore, HB tumorigenesis may be initiated during embryogenesis and may originate from angiomesenchyma because of the expression of three cell types (stromal cells, pericytes, and endothelial cells) in vimentin. Their capacity for proliferation and differentiation in HB depends on the microenvironment., (Copyright © 2009 Elsevier Masson SAS. All rights reserved.)

Histologic grade is a significant predictor of outcome in salivary gland carcinomas. We underlined some newly recognized findings in grading: (i) evidence of high grade anaplastic transformation, occurring either at initial presentation or at relapse, is correlated with the clinical outcome; (ii) extracapsular invasion of carcinoma ex pleomorphic adenoma should be measured because it is now a known prognostic marker; (iii) the MIB-1 proliferative index is the most useful immunohistochemical marker for prognosis of all salivary gland carcinomas. In recent years, specific chromosomal translocations have been reported in some salivary glands tumors. The PLAG1 and HMGA2 gene translocations have so far been identified only in pleomorphic adenomas, and their detection may potentially aid in diagnosis. The mucoepeidermoid carcinoma translocated 1--mastermind like gene family (MECT1-MAML2) translocation, characterizing mucoepidermoid carcinoma, is also a prognostic marker. Newly recognized entities are summarized with special interest on differential diagnosis pitfalls: oncocytic mucoepidermoid carcinoma, sclerosing mucoepidermoid carcinoma with eosinophilia, sclerosing polycystic adenosis, lymphadenoma, lipoadenoma, newly recognized morphological variants of epithelial-myoepithelial carcinoma, cribriform adenocarcinoma of the tongue, signet ring adenocarcinoma of minor salivary gland. Specific chromosomal translocations and latest knowledge of the molecular mechanisms responsible for salivary glands oncogenesis (Epidermal Growth Factor Receptor [EGFR], phosphorylated AKT, topoisomerase II alpha, p27, Stat 3, maspin) should pave the way toward future targeted therapies.

Only a few cases of cavernomas induced by radiation treatment, 78 patients, have been reported in the literature. The prevalence may be underestimated. Cavernomas occur several years after radiotherapy for brain neoplasia. Medulloblastoma, glioma and acute lymphoblastic lymphoma are commonly diagnosed and treated in childhood, generally in males. We report new cases of cavernomas induced by radiation treatment. The first case was a 55-year-old man given radiation and chemotherapy for frontal astrocytoma at the age of 46. The second concerned a 30-year-old woman treated by radiation and surgery for brainstem medulloblastoma at the age of four. Epidemiological and pathogenic features of radiation-induced cavernoma are discussed.

Rhino-cerebral fungal infections are rare and difficult disorders to cure. We report the case of a woman presenting a left trigeminal neuralgia complicated by ophthalmoplegia and blindness. MRI demonstrated a lesion of the left orbital apex with extension into the cavernous sinus. Fungal infiltration (aspergillosis or mucormycosis), was seen on biopsy. High-dose liposomal Amphotericin B (5mg/kg/day) for six weeks was unsuccessful. Adjunctant hyperbaric oxygen therapy led to clinical and radiological improvement. Hyperbaric oxygen therapy is discussed in the medical management of rhino-cerebral yeast abscesses.

Extraskeletal myxoid chondrosarcoma is a rare but distinct entity with special clinicopathological, immunohistochemical, cytogenetical and outcome features. This tumor developed from soft tissues. A few cases have been reported in the head and neck in the literature. We report two new cases of extraskeletal myxoid chrondrosarcoma presenting in such an unusual site: one involved the left nasal cavity of a 67-year-old man and the second the sphenoidal sinus of a 71-year-old woman. The microscopic examination revealed nests of round small cells dispersed in a myxoid stroma. The myxoid material was stained with Alcian Blue with and without hyaluronidase application whereas no PAS staining was observed. The immunohistochemical staining showed reactivity with S-100 protein and vimentin in two cases and with EMA in one case. These results allowed us to exclude other differential diagnoses: soft tissue tumors with a myxoid stroma (myxoma, myxoid liposarcoma and myxofibrosarcoma). No staining with anti-KL1 allowed us to exclude chordoma. Curative surgery was not possible. Both patients were given radiotherapy and the tumor regressed in one.

We report the case of a 26-year-old male who was operated on after an acute episode complicating a long history of seizures. The resected temporal lesion was an anaplastic ganglioglioma. Ganglioglioma is a tumor of children and young adults, characterized by two cell components, neuronal and glial. It is usually a benign lesion. The present case is remarkable in several aspects. Hemorrhage led to the discovery of a supra-tentorial tumour. Microscopic examination revealed anaplastic foci in an otherwise typical lesion. There was a long past medical history but outcome was rapidly unfavorable after surgical resection and associated with dissemination along the spinal cord.

Lysosomal disorders are related to dysfunctions of lysosomes which may affect enzymes, transporters or activators. Their clinical features are varied. This is due to several mechanisms, the metabolism of nervous tissue explaining its particular involvement in sphingolipidosis. The classifications are still changing and, recently, some ceroid-lipofuscinosis were included in this group. Biological diagnosis relies on biochemical study of accumulated substrate or on enzymatic assays. It remains sometimes difficult. The analysis of tissue is then a useful tool. Biopsies from extraneural tissues, essentially skin and conjunctival biopsies, are nowadays preferred to brain biopsies. However, the location of the biopsy varies according to the suspected disease. The specimen must be adequately prepared and electron microscopy is necessary. Results of this examination are summarized. The interest of the biopsy is not restricted to diagnosis, it is useful in follow-up of treated patients and for understanding the underlying pathophysiology.

Type IV glycogenosis or Andersen disease is characterized by a deficiency in branching enzyme. This rare disease is exceptionally seen at birth. The clinico-pathological data are then typical: severe hypotonia with hypoventilation and cellular storage, without any hepatosplenomegaly. The stored material is PAS positive, sometimes made of crystals and appeared birefringent under polarized light. Granulo-filamentous inclusions are shown by electron microscopy, essentially observed in muscle and liver without cirrhosis. Death occurs rapidly. The present case was typical. It is the eleventh reported case in the literature.