Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature.

Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, developmental delay, and facial dysmorphism. PTPN11 mutations are the most common cause of NS. PTPN11 encodes a non-receptor protein tyrosine phosphatase, SHP2. Hematopoietic malignancies and solid tumors are associated with NS. Among solid tumors, brain tumors have been described in children and young adults but remain rather rare. We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found to have a left temporal lobe brain tumor and a cystic lesion in the right thalamus. He developed epilepsy 2 years later. The temporal tumor was surgically resected because of increasing crises and worsening radiological signs. Microscopy showed nodules with specific glioneuronal elements or glial nodules, leading to the diagnosis of dysembryoplastic neuroepithelial tumor (DNT). Immunohistochemistry revealed positive nuclear staining with Olig2 and pERK in small cells. SHP2 plays a key role in RAS/MAPK pathway signaling which controls several developmental cell processes and oncogenesis. An amino-acid substitution in the N-terminal SHP2 domain disrupts the self-locking conformation and leads to ERK activation. Glioneuronal tumors including DNTs and pilocytic astrocytomas have been described in NS. This report provides further support for the relation of DNTs with RASopathies and for the implication of RAS/MAPK pathways in sporadic low-grade glial tumors including DNTs. © 2017 Wiley Periodicals, Inc.

Implantes peritoneales de tejido glial maduro (gliomatosis peritoneal) y de otros tejidos maduros asociados a teratoma ovárico inmaduro / Peritoneal implants of mature glial tissue (gliomatosis peritonei) and other mature tissues associated with ovarian teratoma

La gliomatosis peritoneal es una forma de extensión muy poco frecuente de los teratomas ováricos. Se caracteriza por la implantación miliar de tejido glial dentro de la cavidad peritoneal en pacientes con teratomas ováricos, generalmente inmaduros. Puede semejar un cuadro de carcinomatosis peritoneal. A pesar de su extensión intraperitoneal, la gliomatosis peritoneal no afecta adversamente al pronóstico del teratoma ovárico primario si los implantes de tejido glial se componen de tejido maduro y, por tanto, justifica tratamientos conservadores. El grado histológico del teratoma es el factor pronóstico que debe indicar el tratamiento complementario necesario. Su pronóstico es bueno, aunque se han descrito casos de malignización

Peritoneal gliomatosis is a very rare metastatic form of ovarian teratoma, characterized by miliary dissemination of glial tissue inside the peritoneal cavity in patients with an ovarian ­ usually immature ­ teratoma. Peritoneal gliomatosis may resemble peritoneal carcinomatosis. Despite peritoneal dissemination, if the glial tissue implants are composed of mature tissue, peritoneal gliomatosis does not adversely affect the prognosis of the primary ovarian teratoma. Consequently, conservative treatment is warranted. The main prognostic factor is the histological grade of the teratoma, which indicates the required complementary treatment. The prognosis of peritoneal gliomatosis is favorable, although cases of malignant transformation have been reporte (AU)

Gliomatosis cerebri: evolución a glioblastoma multiforme / Gliomatosis cerebri: evolution to glioblastoma multiforme

Introducción. La gliomatosis cerebri es un trastorno neoplásico caracterizado por una infiltración difusa de células gliales con relativa conservación de las estructuras subyacentes. Las crisis comiciales, la cefalea y los trastornos del comportamiento suelen ser las manifestaciones iniciales.Caso clínico. Hombre de 38 años que presenta crisis parciales complejas y trastorno del comportamiento de 3 meses de evolución. En la resonancia magnética cerebral presenta lesiones hiperintesas en T2 sugerentes de gliomatosis cerebri, confirmándose con la biopsia cerebral. Varios meses después sufre un empeoramiento clínico rápido, evidenciándose el desarrollo de un glioblastoma multiforme sobre la lesión.Conclusiones. La gliomatosis cerebri, pese a su rareza, debe tenerse en cuenta en el diagnóstico diferencial de las lesiones infiltrativas difusas de la sustancia blanca. El empeoramiento clínico de rápida evolución y la aparición de lesiones focales que captan contraste nos deben hacer sospechar una trasformación a lesiones de mayor malignidad

Introduction. Gliomatosis cerebri is a neoplastic disorder characterized by diffuse infiltration of glial cells with relative conservation of the underlying structures. Seizures, headache and behavior disorders are generally the initial manifestations.Clínical case. A 38 year-old male who had complex partial seizures and behavior disorder of three months' evolution. The brain magnetic resonance imaging showed hyperintense lesions in T2 suggestive of gliomatosis cerebri, this being confirmed with the brain biopsy. Several months later, he suffered rapid clinical deterioration, observing the development of a glioblastoma multiforme over the lesion.Conclusions. In spite of its rareness, gliomatosis cerebri should be taken into account in the differential diagnoses of diffuse infiltrative lesions of the white matter. Rapid evolution clinical deterioration and the appearance of focal lesions that capture contrast should make us suspect a transformation to lesions of greater malignancy

[Pediatric supratentorial oligodendrogliomas: Marseilles and Lyons experiences]. / Les oligodendrogliomes supratentoriels de l'enfant. A propos des séries arseillaises et lyonnaises.

BACKGROUND AND PURPOSE: The goal of this study was to analyze the main aspects of oligodendrogliomas observed in children. METHOD: The records of 35 children aged 15 years or younger (23 from Marseilles and 12 from Lyons) were reviewed. Clinical signs and symptoms, imaging findings (CT scan and pre- and post-operative MRI), extent of surgical resection, histology according to the WHO and Ste-Anne grading and survival were analysed. Considering all these factors, a statistical analyzis was undertaken in order to identify prognostic factors. DISCUSSION AND CONCLUSION: Oligodendrogliomas are rare tumors in children. The most important differential diagnosis to discuss is dysembryoplastic neuroepithelial tumor. Our study allowed us to distinguish several subgroups of patients with a different prognosis: thalamic tumors with a dismal prognosis versus hemispheric tumors. A group of cortical tumors we called "DNT-like" (hemispheric cortical tumor, isolated epilepsy, without neurological deficit and reased ICP, without edema and mass effect on MRI) with an excellent prognosis like the group with epilepsy. Histological grading (grade A/grade B and grade II/grade III) is also a prognostic factor.

Gliomatosis cerebri: pitfalls in diagnosis.

We report two young patients with obscure presentations of gliomatosis cerebri. Initial CT scanning was inconclusive and in one case showed intraventricular haemorrhage, a feature not previously described. Magnetic resonance imaging was required to show the lesions with greater definition; however, in both cases, a biopsy was needed to confirm the diagnosis.