Multi-Lineage Interrogation of the Performance Characteristics of a Split-Signal Fluorescence In Situ Hybridization Probe for Anaplastic Lymphoma Kinase Gene Rearrangements

2004 ◽  
Vol 8 (4) ◽  
pp. 213-229
Author(s):  
Leonard Hwan Cheong Tan ◽  
Elaine Do ◽  
Soo Yong Tan ◽  
Siew Meng Chong ◽  
Evelyn Siew Chuan Koay
2012 ◽  
Vol 136 (6) ◽  
pp. 623-626 ◽  
Author(s):  
Neil E. Fuehrer ◽  
Gary L. Keeney ◽  
Rhett P. Ketterling ◽  
Ryan A. Knudson ◽  
Debra A. Bell

Context.—Inflammatory myofibroblastic tumor is a predominantly benign, spindle cell, mesenchymal neoplasm with myxoid areas that occurs rarely in the female genital tract and may be confused with other spindle cell lesions, particularly leiomyosarcoma. Objective.—To investigate the utility of detecting anaplastic lymphoma kinase-1 protein expression and ALK gene rearrangements in the diagnosis of inflammatory myofibroblastic tumors in the female genital tract. Design.—Eight inflammatory myofibroblastic tumors arising in the female genital tract and seen in consultation (from 2004 to 2011) were reviewed. Immunohistochemistry for anaplastic lymphoma kinase-1 and fluorescence in-situ hybridization studies for ALK gene rearrangements were performed. Results.—The anatomic sites included myometrium (4 cases) and endometrium, fallopian tube, cervix, and a cervical polyp (1 each), with a patient age range from 25 to 52 years. Histologic features ranged from bland spindle cells to striking cytologic atypia, embedded in a prominent myxoid background. Anaplastic lymphoma kinase-1 immunohistochemistry was positive in 7 cases. Fluorescence in-situ hybridization studies detected ALK gene rearrangements in 5 cases. Five cases had both immunopositivity and fluorescence in-situ hybridization abnormalities, 2 cases had immunopositivity only, and 1 case was negative by both methods. Conclusions.—This is the first report, to our knowledge, of ALK gene rearrangements in inflammatory myofibroblastic tumors in the female genital tract. If a myxoid background is appreciated in a spindle cell lesion of the female genital tract, especially if inflammatory cells are present, anaplastic lymphoma kinase-1 staining along with fluorescence in situ hybridization studies, for ALK gene rearrangements, may aid in distinguishing inflammatory myofibroblastic tumors from their malignant mimics.


2015 ◽  
Vol 16 (5) ◽  
pp. e83-e89 ◽  
Author(s):  
Sojung Park ◽  
Tai Sun Park ◽  
Chang-Min Choi ◽  
Dae Ho Lee ◽  
Sang-We Kim ◽  
...  

2016 ◽  
Vol 140 (12) ◽  
pp. 1323-1330 ◽  
Author(s):  
Spasenija Savic ◽  
Lukas Bubendorf

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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