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Myxoid pleomorphic liposarcoma : a clinicopathologic, immunohistochemical, molecular genetic and epigenetic study of 12 cases, suggesting a possible relationship with conventional pleomorphic liposarcoma

(2021) MODERN PATHOLOGY. 34. p.2043-2049
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Abstract
Myxoid pleomorphic liposarcoma is a recently defined subtype of liposarcoma, which preferentially involves the mediastinum of young patients and shows mixed histological features of conventional myxoid liposarcoma and pleomorphic liposarcoma. While myxoid pleomorphic liposarcoma is known to lack the EWSR1/FUS-DDIT3 fusions characteristic of the former, additional genetic data are limited. To further understand this tumor type, we extensively examined a series of myxoid pleomorphic liposarcomas by fluorescence in situ hybridization (FISH), shallow whole genome sequencing (sWGS) and genome-wide DNA methylation profiling. The 12 tumors occurred in 6 females and 6 males, ranging from 17 to 58 years of age (mean 33 years, median 35 years), and were located in the mediastinum (n = 5), back, neck, cheek and leg, including thigh. Histologically, all cases consisted of relatively, bland, abundantly myxoid areas with a prominent capillary vasculature, admixed with much more cellular and less myxoid foci containing markedly pleomorphic spindled cells, numerous pleomorphic lipoblasts and elevated mitotic activity. Using sWGS, myxoid pleomorphic liposarcomas were found to have complex chromosomal alterations, including recurrent large chromosomal gains involving chromosomes 1, 6-8, 18-21 and losses involving chromosomes 13, 16 and 17. Losses in chromosome 13, in particular loss in 13q14 (including RB1, RCTB2, DLEU1, and ITM2B genes), were observed in 4 out of 8 cases analyzed. Additional FISH analyses confirmed the presence of a monoallelic RB1 deletion in 8/12 cases. Moreover, nuclear Rb expression was deficient in all studied cases. None showed DDIT3 gene rearrangement or MDM2 gene amplification. Using genome-wide DNA methylation profiling, myxoid pleomorphic liposarcomas and conventional pleomorphic liposarcomas formed a common methylation cluster, which segregated from conventional myxoid liposarcomas. While the morphologic, genetic and epigenetic characteristics of myxoid pleomorphic liposarcoma suggest a link with conventional pleomorphic liposarcoma, its distinctive clinical features support continued separate classification for the time being.
Keywords
Pathology and Forensic Medicine, CELL-LIPOMATOUS-TUMOR, IN-SITU HYBRIDIZATION, RB1, AMPLIFICATION

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MLA
Creytens, David, et al. “Myxoid Pleomorphic Liposarcoma : A Clinicopathologic, Immunohistochemical, Molecular Genetic and Epigenetic Study of 12 Cases, Suggesting a Possible Relationship with Conventional Pleomorphic Liposarcoma.” MODERN PATHOLOGY, vol. 34, 2021, pp. 2043–49, doi:10.1038/s41379-021-00862-2.
APA
Creytens, D., Folpe, A. L., Koelsche, C., Mentzel, T., Ferdinande, L., van Gorp, J. M., … Flucke, U. (2021). Myxoid pleomorphic liposarcoma : a clinicopathologic, immunohistochemical, molecular genetic and epigenetic study of 12 cases, suggesting a possible relationship with conventional pleomorphic liposarcoma. MODERN PATHOLOGY, 34, 2043–2049. https://doi.org/10.1038/s41379-021-00862-2
Chicago author-date
Creytens, David, Andrew L. Folpe, Christian Koelsche, Thomas Mentzel, Liesbeth Ferdinande, Joost M. van Gorp, Malaïka Van der Linden, et al. 2021. “Myxoid Pleomorphic Liposarcoma : A Clinicopathologic, Immunohistochemical, Molecular Genetic and Epigenetic Study of 12 Cases, Suggesting a Possible Relationship with Conventional Pleomorphic Liposarcoma.” MODERN PATHOLOGY 34: 2043–49. https://doi.org/10.1038/s41379-021-00862-2.
Chicago author-date (all authors)
Creytens, David, Andrew L. Folpe, Christian Koelsche, Thomas Mentzel, Liesbeth Ferdinande, Joost M. van Gorp, Malaïka Van der Linden, Lennart Raman, Björn Menten, Karen Fritchie, Andreas von Deimling, Jo Van Dorpe, and Uta Flucke. 2021. “Myxoid Pleomorphic Liposarcoma : A Clinicopathologic, Immunohistochemical, Molecular Genetic and Epigenetic Study of 12 Cases, Suggesting a Possible Relationship with Conventional Pleomorphic Liposarcoma.” MODERN PATHOLOGY 34: 2043–2049. doi:10.1038/s41379-021-00862-2.
Vancouver
1.
Creytens D, Folpe AL, Koelsche C, Mentzel T, Ferdinande L, van Gorp JM, et al. Myxoid pleomorphic liposarcoma : a clinicopathologic, immunohistochemical, molecular genetic and epigenetic study of 12 cases, suggesting a possible relationship with conventional pleomorphic liposarcoma. MODERN PATHOLOGY. 2021;34:2043–9.
IEEE
[1]
D. Creytens et al., “Myxoid pleomorphic liposarcoma : a clinicopathologic, immunohistochemical, molecular genetic and epigenetic study of 12 cases, suggesting a possible relationship with conventional pleomorphic liposarcoma,” MODERN PATHOLOGY, vol. 34, pp. 2043–2049, 2021.
@article{8713850,
  abstract     = {{Myxoid pleomorphic liposarcoma is a recently defined subtype of liposarcoma, which preferentially involves the mediastinum of young patients and shows mixed histological features of conventional myxoid liposarcoma and pleomorphic liposarcoma. While myxoid pleomorphic liposarcoma is known to lack the EWSR1/FUS-DDIT3 fusions characteristic of the former, additional genetic data are limited. To further understand this tumor type, we extensively examined a series of myxoid pleomorphic liposarcomas by fluorescence in situ hybridization (FISH), shallow whole genome sequencing (sWGS) and genome-wide DNA methylation profiling. The 12 tumors occurred in 6 females and 6 males, ranging from 17 to 58 years of age (mean 33 years, median 35 years), and were located in the mediastinum (n = 5), back, neck, cheek and leg, including thigh. Histologically, all cases consisted of relatively, bland, abundantly myxoid areas with a prominent capillary vasculature, admixed with much more cellular and less myxoid foci containing markedly pleomorphic spindled cells, numerous pleomorphic lipoblasts and elevated mitotic activity. Using sWGS, myxoid pleomorphic liposarcomas were found to have complex chromosomal alterations, including recurrent large chromosomal gains involving chromosomes 1, 6-8, 18-21 and losses involving chromosomes 13, 16 and 17. Losses in chromosome 13, in particular loss in 13q14 (including RB1, RCTB2, DLEU1, and ITM2B genes), were observed in 4 out of 8 cases analyzed. Additional FISH analyses confirmed the presence of a monoallelic RB1 deletion in 8/12 cases. Moreover, nuclear Rb expression was deficient in all studied cases. None showed DDIT3 gene rearrangement or MDM2 gene amplification. Using genome-wide DNA methylation profiling, myxoid pleomorphic liposarcomas and conventional pleomorphic liposarcomas formed a common methylation cluster, which segregated from conventional myxoid liposarcomas. While the morphologic, genetic and epigenetic characteristics of myxoid pleomorphic liposarcoma suggest a link with conventional pleomorphic liposarcoma, its distinctive clinical features support continued separate classification for the time being.}},
  author       = {{Creytens, David and Folpe, Andrew L. and Koelsche, Christian and Mentzel, Thomas and Ferdinande, Liesbeth and van Gorp, Joost M. and Van der Linden, Malaïka and Raman, Lennart and Menten, Björn and Fritchie, Karen and von Deimling, Andreas and Van Dorpe, Jo and Flucke, Uta}},
  issn         = {{0893-3952}},
  journal      = {{MODERN PATHOLOGY}},
  keywords     = {{Pathology and Forensic Medicine,CELL-LIPOMATOUS-TUMOR,IN-SITU HYBRIDIZATION,RB1,AMPLIFICATION}},
  language     = {{eng}},
  pages        = {{2043--2049}},
  title        = {{Myxoid pleomorphic liposarcoma : a clinicopathologic, immunohistochemical, molecular genetic and epigenetic study of 12 cases, suggesting a possible relationship with conventional pleomorphic liposarcoma}},
  url          = {{http://doi.org/10.1038/s41379-021-00862-2}},
  volume       = {{34}},
  year         = {{2021}},
}

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