Clinical, Pathological, and Genomic profiles of Salivary Warthin tumor-like Mucoepidermoid Carcinoma

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S87-S87
Author(s):  
B Li
Keyword(s):  
Transition Zone ◽  
Mucoepidermoid Carcinoma ◽  
Fish Analysis ◽  
Warthin Tumor ◽  
Molecular Features ◽  
Whole Exome ◽  
Main Driver ◽  
Driver Event

Abstract Introduction/Objective Warthin tumor-like mucoepidermoid carcinoma(WTL- MEC) is one of the subvariant of mucoepidermoid carcinoma. It mimics the histological features of metaplastic Warthin tumors (mWTs). To investigate the clinicopathological, molecular features, and bio-behaviors of WTL-MEC, we retrospected a cohort of 29 WTL- MEC patients. Methods/Case Report The clinicopathological and microscopic data were collected. Dual-color FISH analysis was performed on paraffin-embedded sections of 29 WTL- MEC patients and 16 mWTs patients using a MAML2 break- apart probe. Whole-exome sequencing and whole transcription sequencing were performed on 3 WTL-MEC and 3 typical mucoepidermoid carcinomas (TMEC) patients. Genetic data were bioinformatically analyzed by software MuTect (v1.7), PINDEL (v0.2.5), SnpEff (v3.0), and etc. Results (if a Case Study enter NA) The cohort of WTL-MEC included 10 male and 19 female patients with a median age of 42.3 years (range, 8 to 68 years). Microscopically, the WTL-MEC lesion consisted of multi-cysts with variant shapes and sizes. The cystic spaces were lined by bi-layered and multilayered oncocytic cells. A transition zone between the bi-layered oncocytic epithelium to the multilayered oncocytic epithelium was observed in WTL-MEC. The cords of epidermoid cells and mucous cells could be found. The germinal center, extensive hyalinization, and mucus extravasation were observed. MAML2 rearrangement was identified in 29 (100%) WTL-MEC. No rearrangement was observed in mWTs by FISH. MET was the most commonly mutated gene in TMEC, and PRDM11 was the most commonly mutated gene in WTL-MEC. Twenty-nine patients were alive without recurrent at the end of the follow-up periods(5–128M). One Patient died due to the metastasis to the lung. Conclusion compared with mWTs, WTL- MEC usually presented in the young, non-smoking female. The histological feature of WTL-MEC depended mainly on the transition zone of the bi-layered oncocytic epithelium and the multilayered oncocytic epithelium. And MAML2 status can confirm the diagnosis. CRTC1-MAML2 and PRDM11 mutations appear to be the main driver event of WTL-MEC. Prognosis was usually favorable, but recurrence or metastasis may rarely occur.

scholarly journals Molecular Features and Clinical Outcomes of Extramedullary Plasmacytomas

Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 398-398
Author(s):  
Rie Nakamoto-Matsubara ◽  
Valentina Nardi ◽  
Cristina Panaroni ◽  
Keertik Fulzele ◽  
Tomoaki Mori ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Chromosome 1 ◽  
Molecular Testing ◽  
Fish Analysis ◽  
Braf Mutations ◽  
Kras Mutations ◽  
Molecular Abnormalities ◽  
Molecular Features ◽  
Number Of Patients

Abstract The treatment of multiple myeloma (MM) continues to evolve with new drugs, resulting in dramatically improved outcomes. Despite these advances, MM remains an incurable disease, with Extraosseous/Extramedullary disease (EMD) playing a major role in the development of relapsed refractory disease. EMD is defined by the development of plasma cell neoplasms that arise in tissues other than bones. EMD can present at diagnosis or develop during the disease course of MM. Sometimes EMD can be solitary without bone marrow (BM) involvement. Determining the molecular underpinnings of EMD are critical to advance the care of such patients. A few reports suggest a possible role of Ras mutations in the intramedullary to extramedullary transition in a limited number of patients. Therefore, the molecular biology of developing EMD has not yet been clearly defined. We sought to identify molecular features of EMD and associated these with clinical outcomes. We analyzed samples from 443 MM patients who presented to Massachusetts General Hospital between 2013 and 2021. All patients voluntarily signed informed consent approved by the institutional review board for SNaPshot (molecular) testing. BM aspirate, biopsy and EMD tumor specimens underwent pathological analysis as well as FISH testing. The diagnosis of EMD was determined by either CT, PET-CT or MRI done as part of their clinical course. In some cases, EMD was confirmed by biopsy. Although there were some cases of EMD adjacent to bones, we strictly defined EMD as non-adjacent to bones based on imaging. Nucleic acids were extracted from BM and EMD samples obtained from MM patients. Multiplexed mutational analysis was done with primers designed to cover 111 genes including genes known to be oncogenic. SNaPshot was done and the threshold for allele frequencies was determined as 8% based on our laboratory cut-offs. The median follow-up of the entire MM population was 63.7 months (range 1 to 408). Overall, 96 of 443 patients (21.6%) developed EMD as previously defined. Sixty-five out of 96 patients had biopsy confirmed EMD, while 31 patients were diagnosed by imaging only. SNaPshot molecular testing was performed on 30 EMD samples from the 65 patients who had biopsies. Interestingly, all EMD samples except for 1 had either NRAS, KRAS, or BRAF mutations. There were 14 EMD samples with NRAS mutations, 6 with KRAS mutations, 4 with BRAF mutations, and 1 with both KRAS and BRAF mutations. All BRAF mutations coexisted with other mutations, such as TP53, ATM, and ARID1A whereas some of the NRAS and KRAS mutations were observed alone. Next SNaPshot was analyzed for 8 paired BM and EMD samples. Three BM samples were negative for NRAS mutations while all EMD samples were positive. Patients with KRAS/NRAS/BRAF mutations who developed EMD had poorer prognosis than non-EMD patients with KRAS/NRAS/BRAF mutations. In patients with KRAS mutations, the median overall survival (OS) was 36.9 months (EMD) vs not reached (non-EMD) (p<0.01); and BRAF mutations, the median OS was 58.5 months (EMD) vs 112.4 months(non-EMD) (p=0.194). In patients with NRAS mutations, the median OS was 94.5 months(EMD) vs 124.5 months (non-EMD) (p=0.11). Average time from diagnosis of MM to developing EMD in 68 patients with longitudinal follow up was 41.6 months and average time from developing EMD to death in 54 patients with longitudinal follow-up was 7.6 months. There were significant differences in BM FISH analysis in KRAS/NRAS/BRAF mutation harboring EMD vs non-EMD; Chromosome 1 abnormalities (79.2% vs 34.2%), TP53 deletion (41.7% vs 22.4%) and hyperdiploidy (37.5% vs 67.1%). Our data suggest that KRAS/NRAS/BRAF mutations may play an important role in the development of EMD. These and other associated molecular abnormalities portend a poorer prognosis and may provide novel therapeutic insights. Disclosures Nardi: Loxo Oncology: Consultancy, Membership on an entity's Board of Directors or advisory committees. Yee: Amgen: Consultancy; Bristol Myer Squibb: Consultancy; Adaptive: Consultancy; GSK: Consultancy; Janssen: Consultancy; Oncopeptides: Consultancy; Sanofi: Consultancy; Takeda: Consultancy; Karyopharm: Consultancy. Branagan: Adaptive Biotechnologies: Consultancy; BeiGene: Consultancy; CSL Behring: Consultancy; Karyopharm: Consultancy; Pharmacyclics: Consultancy; Sanofi Genzyme: Consultancy. O'Donnell: Onocopeptide: Consultancy; Karyopharm: Consultancy; Janssen: Consultancy; Bristol Myer Squibb: Consultancy; Adaptive: Consultancy; Takeda: Consultancy. Raje: Celgene, Amgen, Bluebird Bio, Janssen, Caribou, and BMS: Other.

Warthin Tumor–Like Mucoepidermoid Carcinoma

2017 ◽  
Vol 26 (1) ◽  
pp. 31-33 ◽  
Author(s):  
Nicholas Heatley ◽  
Kevin J. Harrington ◽  
Khin Thway
Keyword(s):  
Lymphoid Tissue ◽  
Mucoepidermoid Carcinoma ◽  
Benign Neoplasm ◽  
Warthin Tumor

Mucoepidermoid carcinoma (MEC) shows a wide morphologic spectrum, including epithelium with oncocytic or squamous metaplastic changes overlying a prominent cystic architecture, as well as tumor-associated lymphoid tissue. We illustrate a case of MEC of the parotid in a 17-year-old female, in which all these features occurred extensively, such that they accounted for almost the entire neoplasm, and closely mimicked Warthin tumor histologically. This highlights the need for diagnostic awareness of this particular morphologic variant of MEC, as patients could potentially be inappropriately discharged from follow-up if diagnosed with a benign neoplasm.

scholarly journals Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study

Cells ◽  
2021 ◽  
Vol 10 (10) ◽  
pp. 2695
Author(s):  
Diana Corallo ◽  
Carlo Zanon ◽  
Marcella Pantile ◽  
Gian Paolo Tonini ◽  
Angelica Zin ◽  
...  
Keyword(s):  
Clonal Evolution ◽  
Disease Onset ◽  
Integrated Analysis ◽  
Comparative Genomic ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Whole Exome ◽  
Genetic Landscape

Neuroblastoma (NB) is the most common extra-cranial malignancy in preschool children. To portray the genetic landscape of an overly aggressive NB leading to a rapid clinical progression of the disease, tumor DNA collected pre- and post-treatment has been analyzed. Array comparative genomic hybridization (aCGH), whole-exome sequencing (WES), and pharmacogenetics approaches, respectively, have identified relevant copy number alterations (CNAs), single nucleotide variants (SNVs), and polymorphisms (SNPs) that were then combined into an integrated analysis. Spontaneously formed 3D tumoroids obtained from the recurrent mass have also been characterized. The results prove the power of combining CNAs, SNVs, and SNPs analyses to assess clonal evolution during the disease progression by evidencing multiple clones at disease onset and dynamic genomic alterations during therapy administration. The proposed molecular and cytogenetic integrated analysis empowers the disease follow-up and the prediction of tumor recurrence.

Intensive Stuttering Therapy With Telepractice Follow-up: A Case Study

2011 ◽  
Vol 21 (1) ◽  
pp. 11-21 ◽  
Author(s):  
Farzan Irani ◽  
Rodney Gabel
Keyword(s):  
Case Report ◽  
Therapeutic Intervention ◽  
Intensive Therapy ◽  
Positive Outcome ◽  
Eclectic Approach

This case report describes the positive outcome of a therapeutic intervention that integrated an intensive, residential component with follow-up telepractice for a 21 year old male who stutters. This therapy utilized an eclectic approach to intensive therapy in conjunction with a 12-month follow-up via video telepractice. The results indicated that the client benefited from the program as demonstrated by a reduction in percent stuttered syllables, a reduction in stuttering severity, and a change in attitudes and feelings related to stuttering and speaking.

Efektivitas Layanan Darurat Jakarta Siaga 112 dalam Penanganan Kebakaran oleh UPT. Pusat Data & Informasi Kebencanaan BPBD Provinsi DKI Jakarta

2020 ◽  
Vol 16 (1) ◽  
Author(s):  
Musa Musa
Keyword(s):  
Emergency Service ◽  
Fire Management ◽  
Emergency Services ◽  
The Public ◽  
Information Center ◽  
Disaster Data ◽  
In Fire ◽  
Document Review

This research was conducted to determine the Effectiveness of Jakarta Siaga 112 Emergency Services in Fire Management by UPT. Disaster Data & Information Center of BPBD DKI Jakarta Province by paying attention to aspects contained in the Effectiveness of the Jakarta Siaga Emergency Service Program 112. The research method was carried out with a case study method with data collection techniques using interview methods and document review. Interviews were conducted on 10 (ten) key informants, document review focused on documents related to the Jakarta Emergency Alert Service 112 Effectiveness research in Fire Management. The results showed that the Effectiveness of Jakarta Siaga 112 Emergency Services in Fire Management by UPT. The Center for Disaster Data & Information BPBD DKI Jakarta Province Its effectiveness is still low, due to the Implementation of Emergency Services Jakarta Standby 112 in Fire Management implemented by UPT. Disaster Data & Information Center of BPBD DKI Jakarta Province in terms of the Target Group Understanding of the Program, the Achievement of the Program Objectives aspects, and the Program Follow-up aspects. It is recommended to continue to disseminate this Emergency Service to the public, it is necessary to increase the firm commitment of the Head of 8 SKPD related to fire management so that all units play a role in accordance with the Standard Operating Procedures (SOPs) for Fire Management and the evaluation and follow-up of program services that are held periodically 3 once a month.Keywords: Effectiveness, Emergency Services, Fire Handling

Paranasal Sinus Mucocele Clinical, imagistic and biochemical aspects

2018 ◽  
Vol 69 (8) ◽  
Author(s):  
Doina Vesa ◽  
Cristian Martu ◽  
Razvan Leata ◽  
Ludmila Lozneanu ◽  
luminita Radulescu ◽  
...  
Keyword(s):  
Facial Asymmetry ◽  
Retrospective Case ◽  
Mri Scans ◽  
The One ◽  
Ethmoid Sinuses ◽  
Retrospective Case Study ◽  
Cellular Components ◽  
Ct And Mri

Paranasal mucoceles are a type of cysts that evolve slowly and are asymptomatic; this poses a difficulty in diagnosing the patient because the symptoms can go unnoticed. The mucocele evolves unpredictably. On the one hand, it can become infected turning into pyoceles and on the other hand, it can invade important regions such as the orbital, cranial or genian regions, creating facial asymmetry. This is a retrospective case study of 37 patients diagnosed with sinus mucoceles, followed up by clinical examination and paraclinical tests such as CT and MRI scans. The biochemical components of the liquid from within the mucocele were analyzed and the following criteria were recorded: NaCl-, Cl-, Na+ and cholesterine as well as cellular components such as mastocytes, macrophages, hematocytes and leucocytes. In all cases, the treatment option was surgery with favorable post-operative and follow-up evaluation. The mucoceles that appeared post-operatively (maxillary and ethmoid sinuses) evolved more rapidly than the mucoceles that were induced byan external injury. Longer follow-up of operated patients permitted a more timely diagnosis of recurrences.

Obesity management through Ayurveda - A Case Study

2017 ◽  
Vol 2 (4) ◽  
Author(s):  
Dheeraj Kumar Tyagi ◽  
Shivakumar .
Keyword(s):  
Clinical Findings ◽  
Dietary Habit ◽  
Unhealthy Lifestyle ◽  
Lifestyle Management ◽  
Before And After ◽  
Effect Of Treatment ◽  
And Control

Lifestyle disorders are one of the biggest threats for the population living unhealthy lifestyle. Sthoulya (Obesity) is one such disorder which creates lot of physical as well as mental disorder to the sufferer. Due to changing lifestyle, comforts and dietary habit lots of individuals changed their life totally. Obesity is a growing disease in developed and developing countries. Prevalence is drastically hike in past few years. Ayurveda, the science of life with which we can manage and control lots of lifestyle disorders. Focusing on dietary and lifestyle management along with treatment, we can overcome the hazards of obesity which is growing in a uncontrolled manner. The available data is based on the clinical findings only. Aim and objective: To assess the effect of “Guru Cha Atarpanam Chikitsa” in the management of Sthoulya. Setting: Swastharakshana evam Yoga, OPD and IPD, SDMCAH, Hassan. Method: Udwarthana, Parisheka, Shamana Aushadhis, Ahara, and Vihara was followed within the treatment duration and effect of treatment was assessed before and after treatment, advised for follow up. Results: The treatment adopted is effective in the management of Sthoulya and to improve the quality of life.

What Matters to South African Bank Customers? A Case Study of four Main South African Banks

2015 ◽  
Vol 6 (1and2) ◽  
Author(s):  
Kingstone Mutsonziwa
Keyword(s):  
Customer Satisfaction ◽  
South African ◽  
Language Usage ◽  
Face To Face ◽  
Bank Resolution ◽  
African Context ◽  
Key Drivers ◽  
Investment Advice

This paper is a follow-up article based on the first article titled Customers speak for themselves: A case of Customer Satisfaction in the four Main South African Banks. Customer satisfaction within the banking industry is very important in the South African context. Although banks are trying their best to give their customers the best service, it is important to continuously measure customer satisfaction and identify service attributes that contribute to overall customer satisfaction for the banks. The data used in the analysis is based on a quantitative survey of 500 randomly selected customers in Pretoria, Johannesburg, Durban and Cape Town were interviewed using a face to face methodology. The key drivers of overall customer satisfaction based on regression analysis for the different banks were helpfulness and innovativeness (ABSA), helpfulness, innovativeness of the bank, resolution of problems and investment advice (FNB), language usage and friendliness of service consultants (Nedbank), innovativeness of the bank, investment advice and use of language (Standard bank). These attributes were important to the overall customer satisfaction and need to be closely monitored by the management of these banks.

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