Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance

2010 ◽  
Vol 93 (6) ◽  
pp. 1892-1902 ◽  
Author(s):  
Zaida Sarrate ◽  
Francesca Vidal ◽  
Joan Blanco
2020 ◽  
Author(s):  
Christopher A. Hylton ◽  
John E. Tomkiel Dean

Pairings between heterologous chromosomes in meiosis can lead to nondisjunction and the production of aneuploid gametes. To minimize these aberrant outcomes, organisms have evolved mechanisms to disrupt such improper pairings prior to orientation and segregation. In the male fruit fly, Drosophila melanogaster, bivalents segregate to distinct nuclear domains in prophase I, and it has been proposed that the formation of these distinct territories may play a role in disrupting interactions between limited homologies on heterologous chromosomes. To test this, we used fluorescent in situ hybridization to examine pairing between the X chromosome and Dp(1;3) chromosomes in which a segment of the X had been transposed to chromosome 3. We found that 120kb of homology was sufficient to insure nearly complete pairing but was not sufficient to direct merotelic segregation of the paired elements, suggesting that such pairings were being disrupted. We compared the perdurance of X / Dp(1;3) pairings to that of X / Dp(1;Y) pairings (in which homologs are paired),and found that heterologous pairings were disrupted at a higher frequency at the S2b stage of prophase I, the stage at which territory formation is initiated. Our results support the model that movement of bivalents into distinct domains in prophase I provides a mechanism to disrupt pairings between limited regions of homology, and thus may be one means of preventing improper segregation of heterologs in this organism.


2018 ◽  
Vol 63 (3) ◽  
pp. 636-644 ◽  
Author(s):  
Christian Brooks ◽  
Valerie Gausman ◽  
Chanthel Kokoy-Mondragon ◽  
Khushboo Munot ◽  
Sunil P. Amin ◽  
...  

2016 ◽  
Vol 140 (6) ◽  
pp. 552-559 ◽  
Author(s):  
Amy G. Zhou ◽  
Yuxin Liu ◽  
Maryann St. Cyr ◽  
Joanne Garver ◽  
Bruce A. Woda ◽  
...  

Context.—UroVysion fluorescent in situ hybridization (FISH) is routinely used to detect urothelial carcinoma (UC). A positive threshold is defined as chromosome polysomy in 4 or more cells, which also includes tetrasomy, a natural product of cell division. Objectives.—To evaluate tetrasomy for UC detection and explore the relation to the surgical diagnosis or patient history. Design.—The FISH was performed on 1532 urine samples from patients with cytology results and 4 or more years of follow-up. We created separate polysomy and tetrasomy categories and constructed receiver operating curves to determine appropriate thresholds using biopsy (n = 194) as the gold standard. Standard FISH and a novel assay integrating cytomorphology and FISH (Target-FISH) were compared. Matching tissue biopsies of urine samples with 10 or more tetrasomy cells were analyzed. Results.—No significant threshold was found for tetrasomy cells. Exclusion of tetrasomy from the polysomy category changed the threshold from 8.5 to 4.5 cells, increased specificity (59.2% to 78.9%), but reduced sensitivity (78.9% to 65.9%). In Target-FISH, the same approach yielded a specificity of 93.7% and sensitivity of 65.2%. Similarly, specificity improved significantly for low- and high-grade UC, but sensitivity decreased for low-grade UC. No evidence of UC was observed in 95% (52 of 55) of the patients referred for screening who had 10 or more tetrasomy cells by FISH. Matching biopsies for urines containing 10 or more tetrasomy cells showed few or no tetrasomy cells. Conclusions.—Tetrasomy is a nonspecific finding frequently encountered in urine FISH and should be excluded from the polysomy classification. Target-FISH is an optimal approach, offering the ability to detect rare tetrasomy tumors.


2007 ◽  
Vol 177 (4S) ◽  
pp. 596-597
Author(s):  
Joseph P. Alukal ◽  
Bobby B. Najari ◽  
Wilson Chuang ◽  
Lata Murthy ◽  
Monica Lopez-Perdomo ◽  
...  

2021 ◽  
pp. 112067212110307
Author(s):  
Raquel María Moral ◽  
Carlos Monteagudo ◽  
Javier Muriel ◽  
Lucía Moreno ◽  
Ana María Peiró

Introduction: Conjunctival melanoma is extremely rare in children and has low rates of resolution. Definitive histopathological diagnosis based exclusively on microscopic findings is sometimes difficult. Thus, early diagnosis and adequate treatment are essential to improve clinical outcomes. Clinical case: We present the first case in which the fluorescent in situ hybridization (FISH) diagnostic technique was applied to a 10-year-old boy initially suspected of having amelanotic nevi in his right eye. Based on the 65% of tumor cells with 11q13 (CCND1) copy number gain and 33% with 6p25 (RREB1) gain as measured by the FISH analysis, and on supporting histopathological findings, the diagnosis of conjunctival melanoma could be made. Following a larger re-excision, adjuvant therapy with Mitomycin C (MMC), cryotherapy and an amniotic membrane graft, the patient has remained disease-free during 9 years of long-term follow-up. Case discussion: Every ophthalmologist should remember to consider and not forget the possibility of using FISH analyses during the differential diagnosis of any suspicious conjunctival lesions. Genetic techniques, such as FISH, have led to great advances in the classification of ambiguous lesions. Evidence-based guidelines for diagnosing conjunctival melanoma in the pediatric population are needed to determine the most appropriate strategy for this age group.


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