Anaplastic Sarcoma of the Kidney With Heterologous Ganglioneuroblastic Differentiation: Another DICER1-Associated Tumor

2021 ◽  
pp. 109352662110438
Author(s):  
Lauren Kroll-Wheeler ◽  
Amer Heider
Keyword(s):  
Spindle Cell ◽  
Renal Tumor ◽  
Braf V600e ◽  
Chromosomal Microarray ◽  
Genomic Sequencing ◽  
Cystic Nephroma ◽  
Tumor Entity ◽  
Dicer1 Syndrome ◽  
Associated Tumors

Anaplastic sarcoma of the kidney (ASK) is a rare renal tumor for which less than thirty cases have been described in the literature to date. Diagnosis of ASK is primarily based on histology, which features solid spindle cell neoplastic islands arranged in a fascicular pattern, prominent anaplastic nuclear morphology, brisk mitoses, and multiple multiloculated cysts lined by hobnail epithelium reminiscent of cystic nephroma. Chondroid or rhabdomyocytic differentiation is often present within the sarcoma. It has been recently suggested that this tumor entity belongs to the DICER1 syndrome tumors based on identification of DICER1 mutations. We report on a case of this rare tumor found in a twenty-month-old female. In addition to the typical histologic findings of ASK, this case also displayed heterologous neuroblastic-gangliocytic differentiation, which has not been previously described in the literature. TP53 and BRAF v600E had aberrant immunostaining. Chromosomal microarray and genomic sequencing revealed loss of chromosome 10 p15.3-p11.2 and both somatic and germline DICER1 mutations, consistent with recent research and further supporting the classification of this tumor within the DICER1 syndrome associated tumors.

Ultrastructure of mesotheliomas

1984 ◽  
Vol 42 ◽  
pp. 98-101
Author(s):  
Irving Dardick
Keyword(s):  
Electron Microscopy ◽  
Latent Period ◽  
Spindle Cell ◽  
Spindle Cell Sarcoma ◽  
Metastatic Adenocarcinoma ◽  
Cell Sarcoma ◽  
Cytological Features ◽  
Industrial Use ◽  
Degree Of Differentiation

With the extensive industrial use of asbestos in this century and the long latent period (20-50 years) between exposure and tumor presentation, the incidence of malignant mesothelioma is now increasing. Thus, surgical pathologists are more frequently faced with the dilemma of differentiating mesothelioma from metastatic adenocarcinoma and spindle-cell sarcoma involving serosal surfaces. Electron microscopy is amodality useful in clarifying this problem.In utilizing ultrastructural features in the diagnosis of mesothelioma, it is essential to appreciate that the classification of this tumor reflects a variety of morphologic forms of differing biologic behavior (Table 1). Furthermore, with the variable histology and degree of differentiation in mesotheliomas it might be expected that the ultrastructure of such tumors also reflects a range of cytological features. Such is the case.

scholarly journals Machine learning algorithm improved automated droplet classification of ddPCR for detection of BRAF V600E in paraffin-embedded samples

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Gabriel A. Colozza-Gama ◽  
Fabiano Callegari ◽  
Nikola Bešič ◽  
Ana C. de J. Paviza ◽  
Janete M. Cerutti
Keyword(s):  
Machine Learning ◽  
Sanger Sequencing ◽  
Learning Algorithm ◽  
Absolute Quantification ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Driver Genes ◽  
Quantitative Classification ◽  
Cancer Driver

AbstractSomatic mutations in cancer driver genes can help diagnosis, prognosis and treatment decisions. Formalin-fixed paraffin-embedded (FFPE) specimen is the main source of DNA for somatic mutation detection. To overcome constraints of DNA isolated from FFPE, we compared pyrosequencing and ddPCR analysis for absolute quantification of BRAF V600E mutation in the DNA extracted from FFPE specimens and compared the results to the qualitative detection information obtained by Sanger Sequencing. Sanger sequencing was able to detect BRAF V600E mutation only when it was present in more than 15% total alleles. Although the sensitivity of ddPCR is higher than that observed for Sanger, it was less consistent than pyrosequencing, likely due to droplet classification bias of FFPE-derived DNA. To address the droplet allocation bias in ddPCR analysis, we have compared different algorithms for automated droplet classification and next correlated these findings with those obtained from pyrosequencing. By examining the addition of non-classifiable droplets (rain) in ddPCR, it was possible to obtain better qualitative classification of droplets and better quantitative classification compared to no rain droplets, when considering pyrosequencing results. Notable, only the Machine learning k-NN algorithm was able to automatically classify the samples, surpassing manual classification based on no-template controls, which shows promise in clinical practice.

scholarly journals Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature

Cancers ◽  
2021 ◽  
Vol 13 (5) ◽  
pp. 997
Author(s):  
Sophie E. van Peer ◽  
Corine J. H. Pleijte ◽  
Ronald R. de Krijger ◽  
Marjolijn C. J. Jongmans ◽  
Roland P. Kuiper ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Renal Tumor ◽  
Molecular Characteristics ◽  
Extensive Literature ◽  
Cystic Nephroma ◽  
Limited Information ◽  
Review Of The Literature ◽  
Genetic Characteristics ◽  
Excellent Outcome

In children presenting with a predominantly cystic renal tumor, the most likely diagnoses include cystic partially differentiated nephroblastoma (CPDN) and cystic nephroma (CN). Both entities are rare and limited information on the clinical and molecular characteristics, treatment, and outcome is available since large cohort studies are lacking. We performed an extensive literature review, in which we identified 113 CPDN and 167 CN. The median age at presentation for CPDN and CN was 12 months (range: 3 weeks–4 years) and 16 months (prenatal diagnosis–16 years), respectively. No patients presented with metastatic disease. Bilateral disease occurred in both entities. Surgery was the main treatment for both. Two/113 CPDN patients and 26/167 CN patients had previous, concomitant, or subsequent other tumors. Unlike CPDN, CN was strongly associated with somatic (n = 27/29) and germline (n = 12/12) DICER1-mutations. Four CPDN patients and one CN patient relapsed. Death was reported in six/103 patients with CPDN and six/118 CN patients, none directly due to disease. In conclusion, children with CPDN and CN are young, do not present with metastases, and have an excellent outcome. Awareness of concomitant or subsequent tumors and genetic testing is important. International registration of cystic renal tumor cohorts is required to enable a better understanding of clinical and genetic characteristics.

scholarly journals Angiocentric glioma from a perspective of A-B-C classification of epilepsy associated tumors

2016 ◽  
Vol 1 ◽  
pp. 40-49 ◽  
Author(s):  
Dariusz Adamek ◽  
Grzegorz Przemysław Siwek ◽  
Adrian Andrzej Chrobak ◽  
Izabela Herman-Sucharska ◽  
Stanisław Kwiatkowski ◽  
...  
Keyword(s):  
Angiocentric Glioma ◽  
Associated Tumors

scholarly journals Neuropathology of Temporal Lobe Epilepsy

2012 ◽  
Vol 2012 ◽  
pp. 1-13 ◽  
Author(s):  
Fahd Al Sufiani ◽  
Lee Cyn Ang
Keyword(s):  
Temporal Lobe Epilepsy ◽  
Temporal Lobe ◽  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia ◽  
Wide Range ◽  
Pathologic Findings ◽  
Pathologic Lesions ◽  
Recent Classification ◽  
Associated Tumors

Pathologic findings in surgical resections from patients with temporal lobe epilepsy include a wide range of diagnostic possibilities that can be categorized into different groups on the basis of etiology. This paper outlines the various pathologic entities described in temporal lobe epilepsy, including some newly recognized epilepsy-associated tumors, and briefly touch on the recent classification of focal cortical dysplasia. This classification takes into account coexistent pathologic lesions in focal cortical dysplasia.

scholarly journals Canine Malignant Mammary Tumours II. Adenocarcinomas, Solid Carcinomas and Spindle Cell Carcinomas

1972 ◽  
Vol 9 (6) ◽  
pp. 447-470 ◽  
Author(s):  
W. Misdorp ◽  
E. Cotchin ◽  
J. F. Hampe ◽  
Anne G. Jabara ◽  
J. von Sandersleben
Keyword(s):  
Spindle Cell ◽  
Clinical Signs ◽  
Subjective Assessment ◽  
Simple Type ◽  
Well Differentiated ◽  
The Times ◽  
Lymphatic Permeation ◽  
Preliminary Classification ◽  
Mammary Adenocarcinomas

A preliminary classification of 130 canine mammary adenocarcinomas, 76 solid carcinomas, and nine spindle cell carcinomas, together with several subtypes, was constructed from pooled, selected (metastasized) material. Each tumour in this series was classified by subjective assessment of its quantitatively predominant histological picture. Many adenocarcinomas and solid carcinomas of simple type were infiltrative, and lymphatic permeation was often found. The complex types of adenocarcinomas and of solid carcinomas were expansive, and lymphatic permeation was rare. Some metastasized adenocarcinomas were well differentiated. The clinical signs, distribution of metastases and some preliminary data on the times of survival of dogs with various types of carcinomas are discussed.

Comparison of next-generation sequencing and FISH/IHC for molecular classification in glioma.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e14021-e14021
Author(s):  
Deze Jia ◽  
Yi Lu ◽  
Xiaomin Li ◽  
Tiantian Han ◽  
Wanglong Deng ◽  
...  
Keyword(s):  
False Negative ◽  
Clinical Pathology ◽  
Molecular Classification ◽  
Braf V600e ◽  
Actual Condition ◽  
Idh1 R132h ◽  
1P Deletion ◽  
Mutation Braf ◽  
H3 K27m Mutations

e14021 Background: The updated 2016 edition of the WHO Classification of CNS tumors indicates that IDH1 R132H, H3 K27M mutations, and co-deletion of 1p19q are strong stratification and prognostic markers glioma. FISH/IHC, as the commonly detected methods, present specific false-negative rates in the actual condition. Methods: In our study, IDH1 R132H status of 158 cases was assessed by IHC and NGS, and H3 K27M statuses of 83 patients were evaluated by IHC and NGS. 22 positive cases of 1p/19q co-deletion, all confirmed by FISH, were assessed by NGS. Results: For IDH1 R132H, 2 cases were IHC negative and were positive as confirmed by NGS. Another 10 patients with weakly IHC positive results were negative in NGS. Combined with histologic hallmarks, 6 cases of these samples could be diagnosed as glioblastoma, IDH wildtype; 1 case with POLE could be diagnosed as giant cell glioblastoma; 3 cases with BRAF V600E mutation, BRAF fusion, and ATRX mutation, respectively, could be diagnosed as pilocytic astrocytoma. Towards H3 K27M, 3 cases with IHC weakly positive were negative in NGS. Among these samples, 2 cases were diagnosed as glioblastoma, IDH wildtype by molecular and histologic hallmarks, and 1 case was medulloblastoma, SHH. Using NGS, IDH1 R132H /H3 K27M statues can be distinctly distinguished in which that is unknown by IHC. The results of NGS and FISH showed a 90.9%(20/22) consistent rate for the 1p19q co-deletion. 1 case was 1p deletion and intact 19q by FISH while 1p19q co-deletion by NGS because of the 19p deletion. 1 case was 1p19q co-deletion by FISH but 1p19q wildtype by NGS, diagnosed as glioblastoma, IDH wildtype with chr7+/10-. Conclusions: In our study, the agreement between NGS results and clinical pathology diagnosis was approximately 100%. NGS may act as the primary technology of molecular classification in glioma in the future.

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