Male infertility and copy number variants (CNVs) in the dog: a two-pronged approach using Computer Assisted Sperm Analysis (CASA) and Fluorescent In Situ Hybridization (FISH)

PurposeEpidermal growth factor receptor (EGFR) gene copy number detected by fluorescent in situ hybridization (FISH) has proven to be useful for selection of non–small-cell lung cancer (NSCLC) patients for treatment with EGFR tyrosine kinase inhibitors. Here, we evaluate EGFR FISH as a predictive marker in NSCLC patients receiving the EGFR monoclonal antibody inhibitor cetuximab plus chemotherapy.Patients and MethodsTwo hundred twenty-nine chemotherapy-naive patients with advanced-stage NSCLC were enrolled onto a phase II selection trial evaluating sequential or concurrent chemotherapy (paclitaxel plus carboplatin) with cetuximab.ResultsEGFR FISH was assessable in 76 patients with available tumor tissue and classified as positive (four or more gene copies per cell in ≥ 40% of the cells or gene amplification) in 59.2%. Response (complete response/partial response) was numerically higher in FISH-positive (45%) versus FISH-negative (26%) patients (P = .14), whereas disease control rate (complete response/partial response plus stable disease) was statistically superior (81% v 55%, respectively; P = .02). Patients with FISH-positive tumors had a median progression-free survival time of 6 months compared with 3 months for FISH-negative patients (P = .0008). Median survival time was 15 months for the FISH-positive group compared with 7 months for patients who were FISH negative. (P = .04). Furthermore, survival favored FISH-positive patients receiving concurrent therapy.ConclusionThese results are the first to suggest that EGFR FISH is a predictive factor for selection of NSCLC patients for cetuximab plus chemotherapy. Prospective validation of these findings is warranted.

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Technology Updates in Male Infertility Management

Indonesian Andrology and Biomedical Journal ◽

10.20473/iabj.v2i2.138 ◽

2021 ◽

Vol 2 (2) ◽

pp. 61-65

Author(s):

Aucky Hinting ◽

Agustinus Agustinus

Keyword(s):

Male Infertility ◽

Biochemical Marker ◽

Computer Assisted ◽

Automatic Assessment ◽

Medical Field ◽

Sperm Analysis ◽

Comprehensive Management ◽

3.0 T ◽

Computer Assisted Sperm Analysis ◽

Magnetic Resonance Imaging Mri

Background: Technologies are replacing manpower many fields including medical field. Several devices have been marketed for replacing/reducing manpower in the medical field including male infertility. Here we reviewed several technologies that developed in male infertility. Review: Computer assisted sperm analysis (CASA), Automatic assessment of biochemical marker of seminal plasma, B-mode ultrasound, and automatic sperm cryopreservation can be applied routinely. Several updates i.e. automatic histopathology assessment, ultrasound strain elastography, magnetic resonance imaging (MRI) stronger than 3.0 T, Artificial intelligence for predicting the presence of sperm in azoospermia cases, automatic sperm selection, and automatic intracytoplasmic sperm injection (ICSI) need more studies before their application. Summary: Prudent choice based on valid studies is needed in order to give a comprehensive management to patient with male infertility without using useless technology.

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Fluorescent in situ hybridization assessment of chromosome 7 copy number in uncultured lung and kidney cells

Cancer Genetics and Cytogenetics ◽

10.1016/0165-4608(93)90235-e ◽

1993 ◽

Vol 66 (2) ◽

pp. 100-102 ◽

Cited By ~ 8

Author(s):

Rizwan Naeem ◽

Kevin Donovan ◽

Joseph M. Corson ◽

Jonathan A. Fletcher

Keyword(s):

In Situ Hybridization ◽

Copy Number ◽

Fluorescent In Situ Hybridization ◽

Chromosome 7 ◽

Kidney Cells ◽

Lung And Kidney

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Congenital Hydrocephalus and Hemivertebrae Associated With De NOVO Partial Monosomy 6q (6q25.3→qter)

Balkan Journal of Medical Genetics ◽

10.1515/bjmg-2015-0009 ◽

2015 ◽

Vol 18 (1) ◽

pp. 77-84 ◽

Cited By ~ 4

Author(s):

Y Li ◽

K-W Choy ◽

H-N Xie ◽

M Chen ◽

W-Y He ◽

...

Keyword(s):

In Situ Hybridization ◽

Copy Number ◽

Fluorescent In Situ Hybridization ◽

De Novo ◽

Copy Number Variant ◽

Terminal Deletion ◽

Congenital Hydrocephalus ◽

Comparative Genomic ◽

Partial Monosomy

AbstractThis study was conducted to describe a prenatal case of congenital hydrocephalus and hemivertebrae with a 6q terminal deletion and to investigate the possible correlation between the genotype and phenotype of the proband. We performed an array-based comparative genomic hybridization (aCGH) analysis on a fetus diagnosed with congenital hydrocephalus and hemivertebrae. The deletion, spanning 10.06 Mb from 6q25.3 to 6qter, was detected in this fetus. The results of aCGH, karyotype and fluorescent in situ hybridization (FISH) analyses in the healthy parents were normal, which confirmed that the proband’s copy- number variant (CNV) was de novo. This deleted region encompassed 97 genes, including 28 OMIM genes. We discussed four genes (TBP, PSMB1, QKI and Pacrg) that may be responsible for hydrocephalus while the T gene may have a role in hemivertebra. We speculate that five genes in the 6q terminal deletion region were potentially associated with hemivertebrae and hydrocephalus in the proband.

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