scholarly journals Implementation of Novel Mode for Evaluation of MYCN Amplification that can Predict Outcome in Patients with Neuroblastoma

2020 ◽  
pp. 1-6
Author(s):  
Sukarova-Angelovska Elena ◽  
Gordana Ilieva ◽  
Mirjana Kocova ◽  
Biljana Conevska ◽  
Sukarova-Angelovska Elena

Background: Neuroblastoma tumorigenesis is a cascading process where several cytogenetic findings can be detected MYCN oncogene is a potent transcription factor that controls main cell functions. Several genetic methods can be applied in order to detect quantity of amplified MYCN oncogene. The purpose of this study is to improve the technique of determining the amplification of the MYCN oncogene in each evaluated tumor cell. Results: Standard G banded karyotype and fluorescence in-situ hybridization (FISH) on interphase nuclei using N-MYC amplification probe was performed in five patients with different clinical presentation of neuroblastoma. Both bone marrow and tumor tissue were analysed in four and in one patient only tumor tissue. Follow up study was performed in order to obtain additional prognostic information. Additional grading system was implemented to obtain MYCN amplification status. Significant amount of amplified units was detected in two patients with adverse outcome, which was not the case in other three patients who had minor or none amplification of MYCN. Furthermore, there were no cells with significant MYCN amplification in more than 30% of the cell surface in patient three and four that represented a good prognostic factor for their survival. Conclusion: Our study confirmed that patients with both chromosomal changes and significant MYCN amplification are characterized with aggressive clinical course. Accuracy in quantifying the amount of MYCN amplification is crucial in planning the therapeutic approach. FISH is proved to be rapid, sensitive, and reliable method for detection of MYCN oncogene amplification in routinely processed samples.

Neurosurgery ◽  
2012 ◽  
Vol 71 (4) ◽  
pp. E901-E904 ◽  
Author(s):  
Karen J. Fritchie ◽  
Mitchel D. Bauman ◽  
Quentin J. Durward

Abstract BACKGROUND AND IMPORTANCE: Myoepithelioma of bone is a rare osseous tumor thought to be related to myoepithelial lesions found at other anatomic sites such as the salivary gland and skin. These tumors are composed of varying proportions of epithelial and myoepithelial cells and exhibit a spectrum of biologic behavior ranging from benign to malignant. We present the first reported case of myoepithelioma of the skull. CLINICAL PRESENTATION: A 20-year-old white woman presented with a persistent right parieto-occipital skull nodule, relating its presence to a fall on the site 2 years previously. The nodule had become painful in the past 2 months. Her past medical history and workup were otherwise unremarkable. The initial biopsy was inconclusive for diagnosis. The lytic bone lesion was subsequently resected, and histopathological examination showed a proliferation of epithelioid cells in a myxochondroid background. Fluorescence in situ hybridization studies revealed a rearrangement of the EWSR1 locus. The morphologic and molecular findings were consistent with the diagnosis of myoepithelioma of bone. CONCLUSION: Six months after surgery, the patient is doing well with no evidence of recurrence. This case illustrates the clinical presentation, histopathology, and molecular findings of a myoepithelioma of the skull with successful surgical treatment. Because myoepitheliomas with benign morphological appearance may rarely act aggressively, long-term clinical follow-up is warranted.


Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 1387-1387
Author(s):  
Fabien Le Bras ◽  
Jean Marc Schiano De Colella ◽  
Lucie Oberic ◽  
Emmanuel Itti ◽  
Thua-Ha Dao ◽  
...  

Abstract Background: Breast implant-associated anaplastic large-cell lymphoma (BI-ALCL) is a rare form of T-cell lymphoma arising adjacent to a breast implant, recently recognized as a provisional entity in the 2017 revised World Health Organization (WHO) lymphoma classification. The pathogenesis of this entity remains elusive even if gene alterations in epigenetic modifiers and JAK-STAT signaling are frequent. ECHELON 2 trial (Horwitz S et al. The Lancet 2019) has set BV-CHP as a new standard of treatment for CD30-positive peripheral T-cell lymphoma, mainly in systemic ALCL patients (pts) but not in BIA-ALCL. Our objective is to describe a series of pts with BIA-ALCL included in the LYSA registry focusing on the use of BV CHP as front-line chemotherapy for patient requiring chemotherapy. Methods: since 2016, a national multidisciplinary meeting has been implemented by the French Cancer Agency to better define therapeutic strategies for newly diagnosed cases after histologic confirmation. Meanwhile, BIA-ALCL registry was funded by the LYSA to collect ambispectively, in France and more recently in Belgium, patient clinical data including reasons for breast implantation, implant manufacturer, treatment and outcome. Results: from 2009 to 2021 , 85 pts (73 in France and 12 in Belgium) gave their informed consent to participate to the registry. Median age was 57 years (range 29-82) at diagnosis. In 39 out of 85 pts (45.9%) the first implant followed a mastectomy for breast cancer. In this analysis, only implants in the breast(s) where the lymphoma occurred have been considered. Five pts (5.9%) had bilateral lymphoma and 80 pts had unilateral lymphoma (35 left side and 45 right side), 35 pts were implanted once (41.2%), 35 twice (41.2%) and 15 pts (17.6%) 3 times or more. The median period between first implant and BIA-ALCL diagnosis was 12.2 years (range 4.1-40.5), and 7 years (range 0.2-25.4) from last implant to diagnosis. The clinical presentation was seroma in 64 pts (75.3%), breast tumor mass with or without seroma in 18 pts (21.1%) and 3 pts were diagnosed without any mass or seroma (1 contiguous lymph node involvement, 2 in the context of systematic implant removal). The two main clinical presentation (i.e. seroma and tumor mass) were most often correlated with the two distinct histological subtypes (in "situ/mixed" (n=62) or "infiltrative" (n=21)). For 2 pts, histological subtype was not available. The majority of pts were Ann Arbor stage I-II (n=65, 76.5%), and 18 (21.2%) pts were stage IV. Stage was unknown in 2 pts. Considering available information, almost all patients had at least one silicone-filled (n=76) and at least one textured implant (n=85) with Biocell texturation (n=61, 71.8%). No patient had only smooth implant. Implant removal with total capsulectomy was performed in 66 patients and 25 underwent chemotherapy based on CHOP or CHOP-like (4 to 6 cycles) chemotherapy regimens (n=13), BV-CHP (6 cycles) (n=10) and others (n=2). Among the patients receiving chemotherapy, CR was obtained in 21 pts (84%) and in 2 pts failed to respond (8%). Among the patients treated with BV-CHP, 8 pts achieved CR (80%) and 2 pts were not yet evaluated at the time of analysis. No limiting toxicity was noted. After a median follow-up of 28.6 months, 78 pts are alive and free of evolutive disease and 8 are lost to follow up. Seven pts died, either from lymphoma progression alone (n=2) or associated with concomitant active breast cancer (n=2), one from breast cancer alone, one from lung epidermoid cancer and one due to myocardial infarction. Patients with an "infiltrative" histological subtype have a significantly worse outcome with a 2y-PFS of 73.8% vs 96.7% for other subtypes ("in situ/mixed subtypes") (p=0.0039, HR=5.3) and a 2y-OS of 78.7% vs 100% (p=0.0022, HR=8.5). With a median follow-up of one year, the 10 patients treated with BV-CHP are alive and free of evolutive disease at the time of analysis. Conclusions: We report on the basis of a limited series of patients that 6 cycles of BV-CHP provide an excellent disease control in patients with BIA-ALCL requiring chemotherapy. Confirmation of these results on a larger series of patients with a longer follow-up is needed. Such observation provides basis for a prospective trial in order to determine if treatment with BV-CHP could be installed as a standard of care for higher risk patients with BIA-ALCL, as those presenting with tumor mass and /or infiltrative subtype. Disclosures Le Bras: Novartis: Honoraria; Celgene BMS: Research Funding; Takeda: Honoraria, Research Funding; Kite Gilead: Honoraria. Bachy: Kite, a Gilead Company: Honoraria; Novartis: Honoraria; Daiishi: Research Funding; Roche: Consultancy; Takeda: Consultancy; Incyte: Consultancy. Bonnet: Roche: Consultancy. André: AbbVie: Other: Travel/accomodation/expenses; Roche: Other: Travel/accomodation/expenses, Research Funding; Johnson & Johnson: Research Funding; Celgene: Other: Travel/accomodation/expenses; Bristol-Myers-Squibb: Consultancy, Other: Travel/Accommodations/Expenses; Karyopharm: Consultancy; Gilead: Consultancy, Other: Travel/Accommodations/Expenses; Incyte: Consultancy; Takeda: Consultancy, Research Funding. Haioun: Amgen: Honoraria, Research Funding; Servier: Honoraria, Research Funding; Takeda: Honoraria, Research Funding; Janssen: Honoraria, Research Funding; Gilead: Honoraria, Research Funding; Celgene: Honoraria, Research Funding; F. Hoffmann-La Roche Ltd: Honoraria, Research Funding; Novartis: Honoraria, Research Funding; Miltenyi: Honoraria, Research Funding.


2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e21025-e21025
Author(s):  
Santiago Rafael Bella ◽  
Jose Roberto Llugdar ◽  
Alejo Lingua ◽  
Ricardo Alejandro Theaux ◽  
Francisco Papalini ◽  
...  

e21025 Background: In OD and OA, the 1p and 19q deletion has prognostic value in survival. It is also a predictive factor for response to chemotherapy. Fluorescence in situ hybridization (FISH) is the standard method for its evaluation. CISH could be an alternative that has already been validated in other neoplasias. In OD and OA, this combined deletion is present in about 50% of patients when analyzed with FISH. Methods: Patients resected at Clinica Reina Fabiola from january 2006 to january 2010 and diagnosed of OD and OA were propectivelly included. Paraffin-embebed tumor tissue was analyzed for 1p19q deletions by CISH. The results were correlated to the histology (OD and OA) and grade (II and III) of the tumors. Results: The demographic features of the patients from the present study coincide with literature. The 1p and 19q deletion was found in 3 of the 24 patients analyzed (13%). The combined deletion was only found in those with grade II OD. No combined deletion was found in patients diagnosed of grade III OD and grade II and III OA. In the subgroup of patients with grade II OD, the combined deletion was observed in 3 of 11 patients (27%). The 3 patients in which the deletion in both chromosomes was observed, received treatment with chemotherapy and radiotherapy, all of them with complete response. 5 years DFS was 90%-median follow up 36,8 (CI: 30,5-42,98) Conclusions: The detection of the combined deletion with CISH technique was inferior (13%) than the literature. We cannot demonstrate that CISH is a reliable method for the detection of the 1p and 19q deletion. The possible reasons of this difference could be attributed to the number of patients of the study, to deviations in the procedures of the test or to the fact that the CISH method is not coincident with FISH. This prospectivelly monoinstitutional results are also different to our previous report, and may be due to different pathological evaluation.


2002 ◽  
Vol 126 (2) ◽  
pp. 165-169
Author(s):  
Jaudah Al-Maghrabi ◽  
Lada Vorobyova ◽  
A. Toi ◽  
William Chapman ◽  
Maria Zielenska ◽  
...  

Abstract Context.—High-grade prostate intraepithelial neoplasia (HPIN) is the most likely precursor of prostate cancer. The condition of many patients with a diagnosis of HPIN in prostate needle core biopsy could, if left untreated, progress to invasive cancer. Currently there is no available clinical, immunohistochemical, or morphologic criteria that are predictive of this progression. Objective.—To determine whether chromosomal instability in these precursor lesions could increase their predictive value for cancer detection. Design.—Dual-color interphase fluorescence in situ hybridization analysis was performed on archived prostate needle core biopsies from 54 patients with initial diagnosis of isolated HPIN and follow-up of 3 years or more. We used commercially available centromere probes for chromosomes 4, 7, 8, and 10. We had interpretable results in 44 patients as follows: (1) group A: 24 HPIN patients with persistent HPIN and/or benign lesions in the follow-up biopsies, and (2) group B: 20 HPIN patients with progression to prostate carcinoma. Results.—Twenty-five percent of the patients in group B displayed numeric chromosomal aberrations. Only 8.3% of the patients from group A had chromosomal abnormalities (P = .1). The observed overall chromosomal changes in HPIN were higher than those in normal or hyperplastic epithelium, with a statistically significant difference (P < .05). All aberrations were detected in the form of chromosomal gain. Overall, the commonest aberration was gain of chromosome 8, followed by gains of chromosomes 7 and 10. Conclusion.—These results indicated that although no single numeric chromosomal abnormality could be assigned as a predictor of HPIN progression to carcinoma, the overall level of numeric chromosomal abnormalities shows a trend of elevation in HPIN patients whose condition subsequently progressed to carcinoma.


Blood ◽  
2011 ◽  
Vol 117 (18) ◽  
pp. 4701-4705 ◽  
Author(s):  
Meletios Dimopoulos ◽  
Robert Kyle ◽  
Jean-Paul Fermand ◽  
S. Vincent Rajkumar ◽  
Jesus San Miguel ◽  
...  

AbstractA panel of members of the 2009 International Myeloma Workshop developed guidelines for standard investigative workup of patients with suspected multiple myeloma. Both serum and urine should be assessed for monoclonal protein. Measurement of monoclonal protein both by densitometer tracing and/by nephelometric quantitation is recommended, and immunofixation is required for confirmation. The serum-free light chain assay is recommended in all newly diagnosed patients with plasma cell dyscrasias. Bone marrow aspiration and/or biopsy along with demonstration of clonality of plasma cells are necessary. Serum β2-microglobulin, albumin, and lactate dehydrogenase are necessary for prognostic purposes. Standard metaphase cytogenetics and fluorescent in situ hybridization for 17p, t(4;14), and t(14;16) are recommended. The skeletal survey remains the standard method for imaging screening, but magnetic resonance imaging frequently provides valuable diagnostic and prognostic information. Most of these tests are repeated during follow-up or at relapse.


Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4716-4716
Author(s):  
Carlos Sergio Barragan ◽  
Silvia B. Hansson ◽  
Silvina A Cicchini ◽  
Monica Tamashiro ◽  
Pablo G Dinardo ◽  
...  

Abstract Abstract 4716 Background Conventional cytogenetic studies by chromosome banding are difficult in chronic lymphocytic leukemia (CLL) because of the low in vitro proliferation or mitotic activity of CLL cells. Interphase Fluorescence in situ hybridization (FISH) has improved the detection of genomic aberrations in CLL. We used this method to identify chromosomal abnormalities in patients with CLL at diagnosis, progression disease, after relapse or treatment failure. Methods Mononuclear cells from the blood of 24 Caucasian patients, 12 men and 12 women, age ranged from 39 to 84 years (median, 64) with CLL were analyzed by FISH, for deletions in chromosome bands 11q22.3, 6q23.3, 13q14.3, 17p13.1, and trisomy of chromosome 12. The patients stages were 0A:12; IA:1; IIA: 2; IIB:4; IIIA:1, IIIB:1; IIIC:1; IV:2. The follow up ranged was from 7 to 124 months. Results Chromosomal aberrations were detected in 15 of 24 (58.33 percent). The most frequent changes were a 12 trisomy (37.5 percent), a deletion in 11q23.3, (12.5 percent), a deletion in 6q23.3 (8.33 percent), a deletion in 17p13.1 ( 8.33 percent), a deletion in 13q14.3 8.33%. A patient showed four aberrations tri(12), d(17p13.1), d(6q23.3), d(11q23.3), she was resistant to Fludarabine + Cyclophosfamide treatment and Rituximab CHOP and had a survival of 51 months. The other patients with trisomy 12 alone are still alive and the survival were ranged from 7 to 120 month. Trisomy 12 was correlated with enlarged lymph nodes. Two patients undergo Richter transformation one of them with 6q23.3 the other without the aberrations assessed. The patients with deletion 11q23.3 were resistant to standard regimens treatment. Ten patients have stable disease (0A), clinical follow up ranged from 7 to 124 months; three with trisomy 12 the others without the genetic aberrations assesses. Longest survivals (124 month) were found in patients without aberration or with trisomy 12. Patients without aberrations or with trisomy 12 had similar evolution. A female patient, 84 years old state in stage 0A along 13 month with d(17p13.1), and d(11q23.3). Patients with 11q23.3 deletions had the shortest median treatment-free interval (11months), and those with trisomy 12 or deletion 13q14.3 had the longest (124 and 40 months respectively). Patients with 11q23.3 and 6q23.3 deletion had more advanced disease. Two patients died, both of them with 6q23.3, overall survival 51 and 54 months respectively. ZAP 70 and CD38 do not have correlation with presence of the genomic aberration assessed .The present of 11q23.3, 6q23.3, 17p13.1, age, the white-cell count, Rai - Binet stage and the serum lactate dehydrogenase level gave significant prognostic information. Conclusions Genomic aberrations are independent prognosis factors of disease progression and survival in Chronic lymphocytic leukemia; establish them properly will be an important goal standard, therefore incorporate FISH assay routinely could give significant prognostic information. These genetic findings are predictors of outcome treatment regimens and could help to choose the appropriated strategic treatments. Disclosures: No relevant conflicts of interest to declare.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Pim J. J. Damen ◽  
Vincent J. Bulthuis ◽  
Patrick E. J. Hanssens ◽  
Suan Te Lie ◽  
Ruth Fleischeuer ◽  
...  

AbstractWHO grade I meningiomas occasionally show regrowth after radiosurgical treatment, which cannot be predicted by clinical features. There is increasing evidence that certain biomarkers are associated with regrowth of meningiomas. The aim of this retrospective study was to asses if these biomarkers could be of value to predict regrowth of WHO grade I meningiomas after additive radiosurgery. Forty-four patients with WHO grade I meningiomas who underwent additive radiosurgical treatment between 2002 and 2015 after Simpson IV resection were included in this study, of which 8 showed regrowth. Median follow-up time was 64 months (range 24–137 months). Tumors were analyzed for the proliferation marker Ki-67 by immunohistochemistry and for deletion of 1p36 by fluorescence in situ hybridization (FISH). Furthermore, genomic DNA was analyzed for promoter hypermethylation of the genes NDRG1–4, SFRP1, HOXA9 and MGMT. Comparison of meningiomas with and without regrowth after radiosurgery revealed that loss of 1p36 (p = 0.001) and hypermethylation of NDRG1 (p = 0.046) were correlated with regrowth free survival. Loss of 1p36 was the only parameter that was significantly associated with meningioma regrowth after multivariate analysis (p = 0.01). Assessment of 1p36 loss in tumor tissue prior to radiosurgery might be considered an indicator of prognosis/regrowth. However, this finding has to be validated in an independent larger set of tumors.


2020 ◽  
Vol 20 (2) ◽  
pp. 61-64
Author(s):  
Mohammad Mahfuzur Rahman Chowdhury ◽  
Rifat Zaman ◽  
Md Amanur Rasul ◽  
Akm Shahadat Hossain ◽  
Shafiqul Alam Chowdhury ◽  
...  

Introduction and objectives: Congenital ureteropelvic junction obstruction (UPJO) is the most common cause of hydronephrosis. Management protocols are based on the presence of symptoms and when the patient is asymptomatic the function of the affected kidney determines the line of treatment. Percutaneous nephrostomy (PCN) became a widely accepted procedure in children in the 1990s. The aim of the study was to evaluate the results of performing percutaneous nephrostomy (PCN) in all patients with UPJO and split renal function (SRF) of less than 10% in the affected kidney, because the management of such cases is still under debate. Methods:This prospective clinical trial was carried out at Dhaka Medical College Hospital from January 2014 to December 2016. Eighteen consecutive patients who underwent PCN for the treatment of unilateral UPJO were evaluated prospectively. In these children, ultrasonography was used for puncture and catheter insertion. Local anesthesia with sedation or general anesthesia was used for puncture. Pig tail catheters were employed. The PCN remained in situ for at least 4 weeks, during which patients received low-dose cephalosporin prophylaxis. Repeat renography was done after 4 weeks. When there was no significant improvement in split renal function (10% or greater) and PCN drainage (greater than 200 ml per day) then nephrectomies were performed otherwise pyeloplasties were performed. The patients were followed up after pyeloplasty with renograms at 3 months and 6 months post operatively. Results: All the patients had severe hydronephrosis during diagnosis and 14 patients with unilateral UPJO were improved after PCN drainage and underwent pyeloplasty. The rest four patients that did not show improvement in the SRF and total volume of urine output underwent nephrectomy. In the patients with unilateral UPJO who improved after PCN drainage, the SRF was increased to 26.4% ±8.6% (mean± SD) after four weeks and pyeloplasty was performed. At three and six months follow-up, SRF value was 29.2% ±8.5% and 30.8.2% ±8.8% respectively. Conclusion: Before planning of nephrectomy in poorly functioning kidneys (SRF < 10%) due to congenital UPJO, PCN drainage should be done to asses improvement of renal function. Bangladesh Journal of Urology, Vol. 20, No. 2, July 2017 p.61-64


2020 ◽  
Vol 16 (1) ◽  
Author(s):  
Mona Lundin

This study explores the use of a new protocol in hypertension care, in which continuous patient-generated data reported through digital technology are presented in graphical form and discussed in follow-up consultations with nurses. This protocol is part of an infrastructure design project in which patients and medical professionals are co-designers. The approach used for the study was interaction analysis, which rendered possible detailed in situ examination of local variations in how nurses relate to the protocol. The findings show three distinct engagements: (1) teasing out an average blood pressure, (2) working around the protocol and graph data and (3) delivering an analysis. It was discovered that the graphical representations structured the consultations to a great extent, and that nurses mostly referred to graphs that showed blood pressure values, which is a measurement central to the medical discourse of hypertension. However, it was also found that analysis of the data alone was not sufficient to engage patients: nurses' invisible and inclusion work through eliciting patients' narratives played an important role here. A conclusion of the study is that nurses and patients both need to be more thoroughly introduced to using protocols based on graphs for more productive consultations to be established. 


Sign in / Sign up

Export Citation Format

Share Document