Pediatric low-grade gliomas: molecular characterization of patient-derived cellular models

Noonan syndrome (NS) is a congenital autosomic dominant condition characterized by a variable spectrum from a clinical and genetical point of view. Germline mutations in more than ten genes involved in RAS–MAPK signal pathway have been demonstrated to cause the disease. An higher risk for leukemia and solid malignancies, including brain tumors, is related to NS. A review of the published literature concerning low grade gliomas (LGGs) in NS is presented. We described also a 13-year-old girl with NS associated with a recurrent mutation in PTPN11, who developed three different types of brain tumors, i.e., an optic pathway glioma, a glioneuronal neoplasm of the left temporal lobe and a cerebellar pilocytic astrocytoma. Molecular characterization of the glioneuronal tumor allowed to detect high levels of phosphorylated MTOR (pMTOR); therefore, a therapeutic approach based on an mTOR inhibitor (everolimus) was elected. The treatment was well tolerated and proved to be effective, leading to a stabilization of the tumor, which was surgical removed. The positive outcome of the present case suggests considering this approach for patients with RASopathies and brain tumors with hyperactivated MTOR signaling.

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Molecular characterization of microbial populations in a low-grade copper ore bioleaching test heap

Hydrometallurgy ◽

10.1016/j.hydromet.2005.07.013 ◽

2005 ◽

Vol 80 (4) ◽

pp. 241-253 ◽

Cited By ~ 114

Author(s):

Cecilia S. Demergasso ◽

Pedro A. Galleguillos P. ◽

Lorena V. Escudero G. ◽

Víctor J. Zepeda A. ◽

Danny Castillo ◽

...

Keyword(s):

Molecular Characterization ◽

Microbial Populations ◽

Low Grade ◽

Copper Ore

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Patient-specific characterization of the invasiveness and proliferation of low-grade gliomas using serial MR imaging and a mathematical model of tumor growth

Oncology Reports ◽

10.3892/or.2015.3926 ◽

2015 ◽

Vol 33 (6) ◽

pp. 2883-2888 ◽

Cited By ~ 4

Author(s):

LEITH HATHOUT ◽

BENJAMIN M. ELLINGSON ◽

TIMOTHY F. CLOUGHESY ◽

WHITNEY B. POPE

Keyword(s):

Mathematical Model ◽

Mr Imaging ◽

Tumor Growth ◽

Patient Specific ◽

Low Grade ◽

Low Grade Gliomas

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Histogram Analysis of Diffusion Weighted Imaging in Low-Grade Gliomas: in vivo Characterization of Tumor Architecture and Corresponding Neuropathology

Frontiers in Oncology ◽

10.3389/fonc.2020.00206 ◽

2020 ◽

Vol 10 ◽

Cited By ~ 2

Author(s):

Georg Alexander Gihr ◽

Diana Horvath-Rizea ◽

Elena Hekeler ◽

Oliver Ganslandt ◽

Hans Henkes ◽

...

Keyword(s):

Diffusion Weighted Imaging ◽

Histogram Analysis ◽

Low Grade ◽

Low Grade Gliomas ◽

Diffusion Weighted ◽

In Vivo Characterization

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Immunohistochemical and Molecular Characterization of Endometrial Stromal Sarcomas

Clinical Pathology ◽

10.1177/2632010x20916736 ◽

2020 ◽

Vol 13 ◽

pp. 2632010X2091673

Author(s):

Sneha Subbaraya ◽

Sudha S Murthy ◽

Sandhya Devi G

Keyword(s):

Cyclin D1 ◽

Molecular Characterization ◽

Oestrogen Receptor ◽

Gene Rearrangement ◽

Uterine Sarcoma ◽

World Health ◽

Diagnostic Tools ◽

Low Grade ◽

Rare Tumours

Introduction: Endometrial stromal sarcomas (ESSs) are rare and characterized by translocations t(7;17)(p15;q11.2) and t(10;17)(q22;p13), resulting in JAZF1-SUZ12 and YWHAE-FAM22 gene fusions used for defining low-grade (LG-ESS) and high-grade (HG-ESS) tumours. Aim: The objective of the study was to characterize ESSs using immunohistochemical and molecular markers. Material and Methods: Patients diagnosed as having ESSs between January 2014 and December 2018 were included in the study. The slides were reviewed along with a panel of immunohistochemical markers, CD10, cyclin D1, oestrogen receptor (ER) and progesterone receptor (PR), Ki67, and vimentin and classified according to World Health Organization (2014) criteria into LG-ESS, HG-ESS, and undifferentiated uterine sarcoma (UUS). Molecular characterization was performed by fluorescence in situ hybridization using relevant probes. Results: Over a 4-year period, 552 cases of endometrial malignancies were reported, 10 of which were ESS (1.8%). Of these, 5 were LG-ESS, 3 HG-ESS, and 2 UUS. CD10 was 100% sensitive and 75% specific for LG-ESS. Oestrogen receptor and PR were 100% specific but less sensitive (80%) for LG-ESS. Forty per cent (2/5) of LG-ESS demonstrated JAZF1-SUZ12 gene rearrangement. All 3 cases of HG-ESS showed diffuse strong cyclin D1 (>70% nuclei) positivity and were negative for cluster differentiation 10, ER, and PR and demonstrated YWHAE gene rearrangement. None of the UUS cases demonstrated this gene rearrangement. Conclusion: Endometrial stromal sarcomas are rare tumours (1.8% in this study). JAZF1-SUZ12 and YWHAE-FAM22 gene rearrangement helps in accurate characterization of ESS and can be used as diagnostic tools especially when the diagnosis is unclear or difficult. Cyclin D1 can be used as an adjuvant immunomarker for YWHAE gene–rearranged HG-ESS.

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