RAPID IDENTIFICATION OF KEY COPY NUMBER ALTERATIONS IN B- AND T-CELL ACUTE LYMPHOBLASTIC LEUKAEMIA BY DIGITAL MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION
BY Prof. Dr. Ritu Gupta 9th November 2020
DSS Imagetech Pvt. Ltd. would like to acknowledge all the wonderful authors who have contributed to the scientific community by sharing their research.
We are proud to be a small part of your research by the mention of our products or technology in them. We hope and wish that you continue to scale new heights in your research and bring more such accolades to yourself, your institute and the country.
Rapid Identification of Key Copy Number Alterations in B- and T-cell Acute Lymphoblastic Leukaemia by Digital Multiplex Ligation-Dependent Probe Amplification*
*Research was done using SALSA® digitalMLPA probemix D007 ALL, a digitalMLPA probemix not currently on the market.
1Laboratory Oncology Unit, Dr. BRA IRCH, All India Institute of Medical Sciences, New Delhi, India
2MRC Holland, Department of Tumour Diagnostics, Amsterdam, Netherlands
3Department of Medical Oncology, Dr. BRA IRCH, All India Institute of Medical Sciences, New Delhi, India
4Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
An excerpt from the paper:
Recently, a next-generation sequencing-based Multiplex Ligation-dependent Probe Amplification (MLPA) variant, digitalMLPA (dMLPA) was developed to detect sub-microscopic CNAs, which might be missed by existing conventional, and high-resolution technologies (19). The available molecular diagnostic tools for detection of these key genetic abnormalities to distinguish various subtypes of ALL include conventional karyotyping, FISH, aCGH, SNP arrays, and conventional MLPA which are tedious and time-consuming. dMLPA allows multiplexing of several targets for accurate copy number detection of multiple genomic targets implicated in ALL. The aim of our study was to evaluate the utility of dMLPA in screening of ALL patients for key CNAs. Here, we present (1) the spectrum of chromosomal abnormalities, and CNAs including gene alterations among B-ALL and T-ALL patients, (2) validation of dMLPA data by conventional MLPA and RT-PCR, (3) correlation of CNAs with Minimal Residual Disease (MRD) status and integration of CNAs with risk stratification in ALL. As far as we know, our study demonstrated the utility of dMLPA in the detection of CNAs in ALL for the first time in Indian patients.
A Little About The Authors:
Prof. Dr. Ritu Gupta, Professor & Head Laboratory Oncology Unit, Dr. BRA IRCH, All India Institute of Medical Sciences, New Delhi, India. She is one of the worldwide beta testers for digitalMLPA and has been using this product for the past couple of years.
Along with her, her colleagues – Dr. Gurvinder Kaur and Dr. Deepshi Thakral have also been pioneers in using digitalMLPA. There are also other members of the Department of Medical Oncology, Dr. BRAIRCH, and Department of Pediatrics from All India Institute of Medical Sciences, New Delhi who have been a part of this project. MRC Holland has also contributed their inputs to it as it is a novel technology and this was one of the first projects on it.