Analysis of Intratumoral Heterogeneity in Myelodysplastic Syndromes with Isolated del(5q) Using a Single Cell Approach
Acha, Pamela ![ORCID Identifier](/img/uab/orcid.ico)
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Xicoy, Blanca ![ORCID Identifier](/img/uab/orcid.ico)
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Mallo, Maria del Mar ![ORCID Identifier](/img/uab/orcid.ico)
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Manzanares Mileo, Ana ![ORCID Identifier](/img/uab/orcid.ico)
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Grau Cat, Javier (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Marcé, Silvia ![ORCID Identifier](/img/uab/orcid.ico)
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Granada, Isabel
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Rodríguez-Luaces, Marta
(Hospital de Tortosa Verge de la Cinta)
Diez-Campelo, María
(Hospital Universitario de Salamanca)
Zamora, Lurdes
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Sole, F.
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Palomo Sanchís, Laura
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Fuster-Tormo, Francisco
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Universitat Autònoma de Barcelona
Date: |
2021 |
Abstract: |
Myelodysplastic syndromes (MDS) are a heterogeneous group of hematological diseases. Among them, the most well characterized subtype is MDS with isolated chromosome 5q deletion (MDS del(5q)), which is the only one defined by a cytogenetic abnormality that makes these patients candidates to be treated with lenalidomide. During the last decade, single cell (SC) analysis has emerged as a powerful tool to decipher clonal architecture and to further understand cancer and other diseases at higher resolution level compared to bulk sequencing techniques. In this study, a SC approach was used to analyze intratumoral heterogeneity in four patients with MDS del(5q). Single CD34+CD117+CD45+CD19- bone marrow hematopoietic stem progenitor cells were isolated using the C1 system (Fluidigm) from diagnosis or before receiving any treatment and from available follow-up samples. Selected somatic alterations were further analyzed in SC by high-throughput qPCR (Biomark HD, Fluidigm) using specific TaqMan assays. A median of 175 cells per sample were analyzed. Inferred clonal architectures were relatively simple and either linear or branching. Similar to previous studies based on bulk sequencing to infer clonal architecture, we were able to observe that an ancestral event in one patient can appear as a secondary hit in another one, thus reflecting the high intratumoral heterogeneity in MDS del(5q) and the importance of patient-specific molecular characterization. |
Grants: |
Instituto de Salud Carlos III PI-14-00013
|
Rights: |
Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. ![Creative Commons](/img/licenses/by.ico) |
Language: |
Anglès |
Document: |
Article ; recerca ; Versió publicada |
Subject: |
Myelodysplastic syndromes ;
Single cell ;
Intratumoral heterogeneity |
Published in: |
Cancers, Vol. 13 Núm. 4 (2021) , p. 841, ISSN 2072-6694 |
DOI: 10.3390/cancers13040841
PMID: 33671317
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Record created 2021-02-24, last modified 2023-10-01