Genomic Aberrations in Salivary Duct Carcinoma Arising in Warthin Tumor of Parotid Gland: DNA Microarray and HER2 Fluorescence In Situ Hybridization

2011 ◽  
Vol 135 (9) ◽  
pp. 1088-1091 ◽  
Author(s):  
Hyun-Jung Kim ◽  
Young Sam Yoo ◽  
Kyeongmee Park ◽  
Ji-Eun Kwon ◽  
Jung Yeon Kim ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Salivary Duct Carcinoma ◽  
Warthin Tumor ◽  
Salivary Duct ◽  
Duct Carcinoma ◽  
First Case ◽  
Genomic Aberrations ◽  
P53 Inactivation

Carcinoma arising from Warthin tumor is extremely rare. A 79-year-old man was admitted for a firm, well-defined, 5-cm left infra-auricular mass. Aspiration cytology showed many lymphohistiocytes and oncocytes in a proteinaceous background, compatible with Warthin tumor. A left superficial parotidectomy showed a solid mass around the cyst wall. The tumor cells of the solid area were arranged as infiltrative ducts with a few foci of malignant transformation. Virtual karyotyping disclosed a complex pattern of genetic aberrations with a focal amplification in 12q14–q21.2. This chromosomal region contains the MDM2 (murine double minute) gene, which regulates p53 inactivation. HER2 fluorescence in situ hybridization showed a focal amplification. Subsequently, the patient underwent total parotidectomy and ipsilateral neck dissection for a recurrence. To our knowledge, this is the first case of salivary duct carcinoma arising from Warthin tumor. The essential molecular pathway has not been reported, we presume an important role of MDM2 amplification–P53 inactivation.

Multiple Myeloma, Detection of Four Unfavorable Genetic Pronostic Factor by Interphase Two-Color Fluorescence in Situ Hybridization Analyses: A Study of 33 Patients At Diagnosis or Relapse

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 5004-5004 ◽  
Author(s):  
Carlo Sergio Barragan ◽  
Silvia B. Hansson ◽  
Silvina A Cicchini ◽  
Federico J Hidalgo ◽  
Claudia E Ochoa ◽  
...  
Keyword(s):  
Bone Marrow ◽  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Poor Prognosis ◽  
Conflicts Of Interest ◽  
Autologous Bone Marrow Transplantation ◽  
Chromosome Band ◽  
Chemotherapy Drugs ◽  
Genomic Aberrations

Abstract Abstract 5004 Background: Interphase Fluorescence in situ hybridization (FISH) has improved the detection of early bad prognostic genomic aberrations in Myeloma (MM) is a fast and reliable method. We used this assay in myeloma patients at diagnosis, after relapse or treatment failure. Methods: Interphase Mononuclear cells from Bone Marrow of 36 Caucasian patients, 13 men and 23 women, age ranged from 40 to 84 years (median, 64) with MM. were analyzed by LEXEL Live FISH probes, for deletions in chromosome band 13q14. 3, 17p13. 1; IGH/CCND1 translocation dual fusion and cMYC breakapart 8 Chromosome. Results: Chromosomal aberrations were detected in 16 of 33 evaluable patient samples of a total 36 patients population. The most frequent aberrations were 7/16 in 13p14. 3 band deletion (43. 75%) 7/33 (21%); 5/16 (31, 25%)patients with deletion had 17p13. 15/33 (15, 15%); 3 cMYC breakapart 3/16 (18. 75%) 3/33 (9%); IGH/CCND1 translocation in 3 patients 3/16 (18. 75%) 3/33 (9%), two of them associated one with cMYC and the other with 13p14. 3. We found other association: A)13p14. 3; 17p13. 1 and cMYC in (1/33). B) 13p14. 3 and cMYC (1/33) C) 17p13. 1; cMYC (1/33). Two patients had 8 chromosome trisomy 2/33 (6%). We foun that 13p14. 3, 17p13. 1 and cMYC association was correlated with a worst and fast evolution. Who had 13p14. 3 band deletion had a worst evolution in our patients. cMyc was associated with a poor prognosis. Conclusions: Genomic aberrations are independent prognosis factors of disease progression, chemotherapy respond and survival in Myeloma. Novel DNA molecular target and bone marrow micro environment modification drugs such as bortezomib and thalidomide or lenalidomide must be use in first line associated perhaps with standar chemotherapy drugs for improving result and consolidate this patients with autologous bone marrow transplantation avoiding the dilate of this strategic in patient with poor prognosis. Future trials must be performed to include a more complete panel of probes in Myeloma. Disclosures: No relevant conflicts of interest to declare.

Abnormal fluorescence in situ hybridization analysis in collecting duct carcinoma

Urology ◽  
2005 ◽  
Vol 66 (5) ◽  
pp. 1110.e9-1110.e11 ◽  
Author(s):  
Ryan Parker ◽  
H. Mallory Reeves ◽  
Sunil Sudarshan ◽  
Daynna Wolff ◽  
Thomas Keane
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Collecting Duct ◽  
Hybridization Analysis ◽  
Duct Carcinoma ◽  
Collecting Duct Carcinoma

Common Fluorescence In Situ Hybridization Applications in Cytology

2016 ◽  
Vol 140 (12) ◽  
pp. 1323-1330 ◽  
Author(s):  
Spasenija Savic ◽  
Lukas Bubendorf
Keyword(s):  
In Situ Hybridization ◽  
Tyrosine Kinase ◽  
Fluorescence In Situ Hybridization ◽  
Kinase Inhibitors ◽  
Molecular Testing ◽  
Diagnostic Dilemma ◽  
Kinase Gene ◽  
Anaplastic Lymphoma ◽  
Genomic Aberrations

Context.— Fluorescence in situ hybridization (FISH) is a well-established method for detection of genomic aberrations in diagnostic, prognostic, and predictive marker testing. Objective.— To review common applications of FISH in cytology. Data Sources.— The published literature was reviewed. Conclusions.— Cytology is particularly well suited for all kinds of FISH applications, which is highlighted in respiratory tract cytology with an increasing demand for predictive FISH testing in lung cancer. Fluorescence in situ hybridization is the gold standard for detection of predictive anaplastic lymphoma kinase gene (ALK) rearrangements, and the same evaluation criteria as in histology apply to cytology. Several other gene rearrangements, including ROS proto-oncogene 1 receptor tyrosine kinase (ROS1), are becoming clinically important and share the same underlining cytogenetic mechanisms with ALK. MET amplification is one of the most common mechanisms of acquired resistance to epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors and can be targeted by crizotinib. As genomic aberrations are a hallmark of malignant cells, FISH is a valuable objective ancillary diagnostic tool. In urinary tract cytology, atypical urothelial cells equivocal for malignancy are a common diagnostic dilemma and multitarget FISH can help clarify such cells. Diagnosis of malignant mesothelioma remains one of the most challenging fields in effusion cytology, and ancillary FISH is useful in establishing the diagnosis. Fluorescence in situ hybridization is a morphology-based technique, and the prerequisite for reliable FISH results is a targeted evaluation of the cells in question (eg, cancer or atypical cells). Cytopathologists and cytotechnicians should therefore be involved in molecular testing in order to select the best material and to provide their morphologic expertise.

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