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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Incidental detection of chromothripsis in routine ...
Incidental detection of chromothripsis in routine blood testing of a patient with breast cancer
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Researchers from the Molecular Genetic Pathology Regional Laboratory at the Southern California Permanente Medical Group have reported the incidental detection of chromothripsis in routine blood testing of a patient with breast cancer. Chromothripsis is a phenomenon characterized by complex rearrangements of chromosomes. The findings were presented in a poster as part of a conference.<br /><br />The patient in question was a 43-year-old female diagnosed with invasive ductal carcinoma. The cancer had spread to three of her 25 axillary lymph nodes. FISH analysis showed that the tumor was estrogen receptor (ER) positive, progesterone receptor (PR) positive, and human epidermal growth factor receptor 2 (HER2) negative.<br /><br />Next-generation sequencing (NGS) analysis for hereditary cancers revealed deletions in the ATM and SDHD genes. To confirm these findings, a peripheral blood sample was submitted for chromosomal microarray analysis (CMA). The CMA revealed several clinically relevant genomic alterations, including mosaic loss of the ATM and SDHD genes, mosaic loss of the RB1 gene as a result of chromothripsis on chromosome 13, and mosaic loss of the RUNX1 gene.<br /><br />The detection of chromothripsis in a peripheral blood specimen of a patient with an underlying solid tumor is considered novel. This finding has clinical implications, as it suggests the need for monitoring for a secondary neoplasm such as a myeloid disorder. The researchers recommended further evaluation and surveillance for the patient.<br /><br />Overall, this study highlights the potential for incidental findings in routine blood testing for cancer patients. It underscores the importance of comprehensive genetic analysis in understanding the complexity of cancer genomes and guiding patient management.
Asset Subtitle
Presenting Author - Abbas Padeganeh, PhD, FACMG; Co-Author - Mariam Ghochani, MS; Co-Author - Annice Chen, MS, MB (ASCP); Co-Author - Atieh Hajianpour, MD, Ms, FACMG; Co-Author - Mike M. Moradian, PhD; Co-Author - Ruan T. Ramjit, MD;
Meta Tag
array CGH
Cancer Cytogenetics
Chromosomal Abnormalities
Clinical Cytogenetics
Cytogenetics
Microarray
Molecular Cytogenetics
NextGen Sequencing
Co-Author
Mariam Ghochani, MS
Co-Author
Annice Chen, MS, MB (ASCP)
Co-Author
Atieh Hajianpour, MD, Ms, FACMG
Co-Author
Mike M. Moradian, PhD
Co-Author
Ruan T. Ramjit, MD
Presenting Author
Abbas Padeganeh, PhD, FACMG
Keywords
Molecular Genetic Pathology
chromothripsis
blood testing
breast cancer
chromosomal rearrangements
invasive ductal carcinoma
FISH analysis
estrogen receptor positive
hereditary cancers
chromosomal microarray analysis
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