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Preimplantation Genetic Testing for Structural Rearrangements
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Inmaculada Campos-Galindo, Vanessa Peinado
Cytogenetics is the study of chromosome structure and properties that capitalizes on the constant morphology and size of normal chromosomes to detect abnormalities [9]. Karyotyping is a useful cytogenetic tool that uses in vitro culture and banding techniques to perform structural and numerical chromosomal analyses in metaphases to describe normal or abnormal chromosome complement of an individual, tissue, or cell line [10]. Currently, karyotyping of peripheral blood samples remains the first-line method for detecting chromosomal abnormalities in infertile couples.
What Genetic Screening Is Appropriate in Recurrent Pregnancy Loss?
Published in Howard J.A. Carp, Recurrent Pregnancy Loss, 2020
Two recent developments have changed the situation. First, there is the discovery that a single-marker maternal plasma cell free (cf)DNA has a vastly superior performance to any of the current protocols. A second, and in some ways competing, development is the use of the prenatal chromosomal microarray (CMA) to facilitate the detection of clinically significant subchromosomal microdeletions and microduplications that are not seen on nonmolecular cytogenetic karyotyping. This considerably enriches the diagnostic potential of fetal material obtained by invasive prenatal diagnosis.
Whole exome and whole genome sequencing
Published in Moshe Hod, Vincenzo Berghella, Mary E. D'Alton, Gian Carlo Di Renzo, Eduard Gratacós, Vassilios Fanos, New Technologies and Perinatal Medicine, 2019
Historically, prenatal diagnosis has focused on detection of chromosomal abnormalities, particularly trisomy 21. Chromosomal microarray analysis (CMA) now provides higher-resolution scanning of the genome, such that more cytogenetic abnormalities can be detected (1). With advances in DNA technology, particularly since the completion of the human genome project, an increasing number of single gene disorders have become amenable to genetic diagnosis. Yet even with these available tests, for the majority of fetuses with sonographic abnormalities, the cause and potential associated abnormalities are not detected until after birth. Recently, next-generation sequencing (NGS) has been introduced and provides the ability to screen for a much larger number of conditions when a genetic diagnosis is suspected, but a precise disorder is not evident.
Clinical and molecular characteristics of acute myeloid leukemia and the dismal prognosis of TP53 mutations in a real-world setting
Published in Hematology, 2023
Hong Liu, Yuye Shi, Shandong Tao, Yunjie Li, Chunling Wang, Liang Yu
Cytogenetic and molecular abnormalities may affect treatment efficacy and prognosis, and their occurrence and prognostic significance show diverse characteristics in different populations. Research into the prognosis of AML patients remains a hot topic. Improved understanding of the molecular characteristics of AML and the recent development of next-generation gene sequencing (NGS) mean that molecular detection, based on gene expression, has improved the prognostic evaluation and treatment strategies of AML. Most molecular abnormalities, such as TP53 mutations, affect the prognosis of AML but lack specific treatments, and their occurrence are mostly related to age [6–8]. TP53 mutations are one of the most common alterations in cancer. TP53 plays important regulatory roles in apoptosis and cell cycle integrity, and its inactivation may lead to uncontrolled cell proliferation and promote cancer development [9]. Approximately 5% – 10% of newly diagnosed cases of AML have mutations in the TP53 gene, which tends to be associated with a poor prognosis [10–16].
Patient characteristics and management practices in chronic myeloid leukemia in Turkey: reflections from an expert meeting
Published in Expert Review of Hematology, 2022
Ahmet Emre Eşkazan, Rıdvan Ali, Ebru Alnıgeniş, Orhan Ayyıldız, İbrahim Haznedaroğlu, Onur Kırkızlar, Erdal Kurtoğlu, Simten Malhan, Ergün Öksüz, Özlem Polat, Güray Saydam, Mehmet Sönmez, Selami Koçak Toprak, Tayfur Toptaş, Mehmet Turgut
According to the experts, hematological tests (complete blood counts and peripheral blood smear), conventional karyotyping from the bone marrow sample and quantitative reverse transcription polymerase chain reaction PCR (qRT-PCR) were the routine laboratory investigations for diagnosing CML. Although there are still some problems experienced in the standardization, the authors mentioned that the International Scale (IS) is the most common approach for reporting the results of qRT-PCR results throughout Turkey. Most of the experts (82%) stated that they also used fluorescence in situ hybridization (FISH) as part of the initial cytogenetic investigation. qPCR and FISH are not among the mandatory diagnostic assessments recommended by the ELN 2020 panelists to confirm CML diagnosis [5]. They recommend FISH as part of a diagnostic workup, only if Ph chromosome could not be detected by conventional cytogenetics and qualitative RT-PCR testing at the baseline is suggested to detect BCR::ABL1 transcripts and identify their types. The HLA (human leukocyte antigen) typing was only requested in difficult to treat conditions such as the presence of multi-TKI resistance, AP-CML, or BP-CML, where patients are potential candidates for allo-HSCT.
Emerging and current treatment combinations for transplant-ineligible multiple myeloma patients
Published in Expert Review of Hematology, 2021
Paola Tacchetti, Serena Rocchi, Simona Barbato, Elena Zamagni, Lucia Pantani, Katia Mancuso, Ilaria Rizzello, Michele Cavo
Despite these significant advances, the presence of high-risk cytogenetic abnormalities continues to confer a poor prognosis. The 2016 IMWG recommendations for treating cytogenetic high-risk patients suggest the use of a PI plus IMiD triplet combination [75]. Second-generation PIs might add benefit in this challenge [21,41], whereas the results for elotuzumab in high-risk disease are still conflicting [64]. The addition of daratumumab to Rd or VMP correlates with HRs for PFS of 0.57 (95% CI, 0.33–1.00) [54] and 0.78 (95% CI, 0.43–1.43) [17], respectively, in cytogenetic high-risk patients. Notably, an impressive median PFS of 45.3 months has been reported with DaraRd in the cytogenetic high-risk setting [54], and this is one of the most promising results reported so far in this challenging subgroup. Consensually, a systematic review and meta-analysis showed that the addition of daratumumab to backbone regimens led to improved PFS among patients with high-risk NDMM (pooled HR 0.67; p = 0.02), although the HR was stronger (0.45, p < 0.01) in the standard-risk group [76].