scholarly journals A rare case of atypical/anaplastic meningioma with MDM2 amplification

Rare Tumors ◽  
2018 ◽  
Vol 10 ◽  
pp. 203636131877951
Author(s):  
Robbert Wylleman ◽  
Maria Debiec-Rychter ◽  
Raf Sciot
Keyword(s):  
Rare Case ◽  
Array Comparative Genomic Hybridization ◽  
Comparative Genomic ◽  
Anaplastic Meningioma ◽  
Double Minute ◽  
Similar Report ◽  
Murine Double Minute ◽  
The Right ◽  
Mdm2 Amplification

We report the exceptional occurrence of murine double minute clone 2 amplification in an atypical meningioma and its recurrent anaplastic meningioma arising in the right frontal lobe of a 75-year-old man. Murine double minute clone 2 amplification was shown by array comparative genomic hybridization and confirmed by fluorescence in situ hybridization. This is a rare finding with only one similar report in the literature. Awareness of this finding is indicated and should not lead to misdiagnosis of other entities that more commonly show this feature.

scholarly journals MDM2 Amplified Sarcomas: A Literature Review

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 496
Author(s):  
Raf Sciot
Keyword(s):  
Suppressor Gene ◽  
Negative Regulator ◽  
Low Grade ◽  
P53 Mutations ◽  
Lipomatous Tumor ◽  
Double Minute ◽  
Genetic Features ◽  
Murine Double Minute ◽  
Well Differentiated ◽  
Mdm2 Amplification

Murine Double Minute Clone 2, located at 12q15, is an oncogene that codes for an oncoprotein of which the association with p53 was discovered 30 years ago. The most important function of MDM2 is to control p53 activity; it is in fact the best documented negative regulator of p53. Mutations of the tumor suppressor gene p53 represent the most frequent genetic change in human cancers. By overexpressing MDM2, cancer cells have another means to block p53. The sarcomas in which MDM2 amplification is a hallmark are well-differentiated liposarcoma/atypical lipomatous tumor, dedifferentiated liposarcoma, intimal sarcoma, and low-grade osteosarcoma. The purpose of this review is to summarize the typical clinical, histopathological, immunohistochemical, and genetic features of these tumors.

scholarly journals Neuronal migration genes and a familial translocation t(3;17): which genes are implicated in the phenotype?

2019 ◽  
Author(s):  
Meriam HADJ AMOR ◽  
Sarra Dimassi ◽  
Hanen Hannachi ◽  
Amel Taj ◽  
Adnene Mlika ◽  
...  
Keyword(s):  
Neuronal Migration ◽  
Critical Region ◽  
Fluorescent In Situ Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
Gene Dosage ◽  
Comparative Genomic ◽  
History Of ◽  
Cytogenetic Characterization

Abstract Background: While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. Methods: In this study, we report on clinical and cytogenetic characterization of two new cases involving 17p13.3 and 3p26 chromosomal regions in two sisters with familial history of lissencephaly. Fluorescent In Situ Hybridization and array Comparative Genomic Hybridization were performed. Results: A deletion including the critical region of the Miller-Dieker syndrome of at least 2,9 Mb and a duplication of at least 3,6 Mb on the short arm of chromosome 3 were highlighted in one case. The opposite rearrangements, duplication 17p13.3 and deletion 3p were seen in the second case. This double chromosome aberration is the result of an adjacent 1:1 meiotic segregation of a maternal reciprocal translocation t(3;17)(p26.2;p13.3). Conclusions: 17p13.3 and 3p26 deletions have a clear range of phenotypic features while duplications still have uncertain clinical significance. However, we could suggest that regardless of the type of the rearrangement, the gene dosage and interactions of CNTN4, CNTN6 and CHL1 in the 3p26 and PAFAH1B1, YWHAE in 17p13.3 could result in different clinical spectrums.

scholarly journals FLT3 Amplification as Double Minute Chromosomes in a Patient with Chronic Myelomonocytic Leukemia

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Heyang Zhang ◽  
Xiaoxue Wang ◽  
Shibo Li ◽  
Xianfu Wang ◽  
Xianglan Lu ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Gene Amplification ◽  
Chronic Myelomonocytic Leukemia ◽  
Comparative Genomic ◽  
Myeloid Neoplasms ◽  
Double Minute ◽  
Myelomonocytic Leukemia ◽  
Double Minute Chromosomes

Double minute chromosomes (dmins) are a form of gene amplification presenting as small spherical paired chromatin bodies. Dmins are rare in hematologic malignancies and are generally associated with a poor prognosis. Some case reports identified MYC or MLL gene amplification performing as dmin in myeloid neoplasms. FLT3 (FMS-related tyrosine kinase 3) acts as an oncogene in myeloid neoplasms which is associated with several signal transduction pathways. Genomic amplification of FLT3 has not been reported in hematological disease. The current study attempts to demonstrate the existence of double minute chromosomes via FLT3 gene amplification in a patient diagnosed with chronic myelomonocytic leukemia (CMML). Routine G-banded karyotype, array-based comparative genomic hybridization, and fluorescence in situ hybridization analyses were used to characterize the cytogenetic abnormality in the patient’s bone marrow. FLT3 amplification as dmins in a patient with CMML was revealed. This case study reports a rare double minute chromosome via FLT3 amplification in CMML by using array-based comparative genomic hybridization and fluorescence in situ hybridization analyses. The study also proposed another possible mechanism of FLT3 genes in leukemogenesis.

Sign in / Sign up

Export Citation Format

Share Document