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Tracing metastatic spread in pediatric solid tumors using copy number and targeted deep sequencing

Andersson, Natalie LU orcid ; Ferro, Michele LU ; Jansson, Caroline LU ; Chattopadhyay, Subhayan LU orcid ; Karlsson, Jenny LU and Gisselsson, David LU (2025) In Journal of Pathology p.1-19
Abstract
The most common cause of death in pediatric cancer patients is a treatment-resistant tumor, compounded by metastatic spread, making surgery, radiation therapy, and chemotherapy unfeasible as curative treatment options. However, the mechanisms behind metastatic spread in pediatric tumors remain largely unexplored. We conducted whole-genome copy number profiling on 171 primary tumor and metastases samples from 17 patients with neuroblastoma, Wilms tumor, or gonadal tumors, and performed targeted deep sequencing on a subset. Phylogenetic reconstruction enabled spatiotemporal tracking of subclones. In total, 11 of 17 patients displayed at least one metastasis arising earlier, defined as occurring before the most recent common ancestor in the... (More)
The most common cause of death in pediatric cancer patients is a treatment-resistant tumor, compounded by metastatic spread, making surgery, radiation therapy, and chemotherapy unfeasible as curative treatment options. However, the mechanisms behind metastatic spread in pediatric tumors remain largely unexplored. We conducted whole-genome copy number profiling on 171 primary tumor and metastases samples from 17 patients with neuroblastoma, Wilms tumor, or gonadal tumors, and performed targeted deep sequencing on a subset. Phylogenetic reconstruction enabled spatiotemporal tracking of subclones. In total, 11 of 17 patients displayed at least one metastasis arising earlier, defined as occurring before the most recent common ancestor in the primary tumor. In eight patients, metastatic spread was observed several times during tumor evolution, with different subclones from the same primary tumor having metastatic capability, even colonizing the same site. Strikingly, dissemination between metastases (intermetastatic spread) occurred in eight of nine patients with metastases in at least two different sites, indicating that this is a common phenomenon in pediatric malignancy. (Less)
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author
; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
epub
subject
keywords
Phylogenetics, Wilms tumor, Rhabdomyosarcoma, Neuroblastoma, Gonadal tumors, Metastasis
in
Journal of Pathology
pages
1 - 19
publisher
John Wiley & Sons Inc.
external identifiers
  • pmid:40985487
ISSN
0022-3417
DOI
10.1002/path.6472
language
English
LU publication?
yes
id
92b3295e-54b0-418e-a17e-4b58deca0f95
date added to LUP
2025-09-23 15:00:39
date last changed
2025-09-25 03:23:56
@article{92b3295e-54b0-418e-a17e-4b58deca0f95,
  abstract     = {{The most common cause of death in pediatric cancer patients is a treatment-resistant tumor, compounded by metastatic spread, making surgery, radiation therapy, and chemotherapy unfeasible as curative treatment options. However, the mechanisms behind metastatic spread in pediatric tumors remain largely unexplored. We conducted whole-genome copy number profiling on 171 primary tumor and metastases samples from 17 patients with neuroblastoma, Wilms tumor, or gonadal tumors, and performed targeted deep sequencing on a subset. Phylogenetic reconstruction enabled spatiotemporal tracking of subclones. In total, 11 of 17 patients displayed at least one metastasis arising earlier, defined as occurring before the most recent common ancestor in the primary tumor. In eight patients, metastatic spread was observed several times during tumor evolution, with different subclones from the same primary tumor having metastatic capability, even colonizing the same site. Strikingly, dissemination between metastases (intermetastatic spread) occurred in eight of nine patients with metastases in at least two different sites, indicating that this is a common phenomenon in pediatric malignancy.}},
  author       = {{Andersson, Natalie and Ferro, Michele and Jansson, Caroline and Chattopadhyay, Subhayan and Karlsson, Jenny and Gisselsson, David}},
  issn         = {{0022-3417}},
  keywords     = {{Phylogenetics; Wilms tumor; Rhabdomyosarcoma; Neuroblastoma; Gonadal tumors; Metastasis}},
  language     = {{eng}},
  month        = {{09}},
  pages        = {{1--19}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Journal of Pathology}},
  title        = {{Tracing metastatic spread in pediatric solid tumors using copy number and targeted deep sequencing}},
  url          = {{http://dx.doi.org/10.1002/path.6472}},
  doi          = {{10.1002/path.6472}},
  year         = {{2025}},
}