Revealing RB1 loss in an emerging entity: report of two cases of PRRX1-rearranged mesenchymal tumours

Aims PRRX1-rearranged mesenchymal tumours are a recently identified and rare subgroup of soft tissue neoplasms with distinct morphological features and genetic alterations. This study aims to further investigate the immunohistochemical profile and underlying genetic alterations in these tumours in o...

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Published inJournal of clinical pathology Vol. 78; no. 3; pp. 154 - 160
Main Authors Cordier, Fleur, Fadaei, Sharareh, Ferdinande, Liesbeth, Dochy, Frederick, Vanwalleghem, Lieve, Van Den Bossche, Karolien, Loontiens, Siebe, Van der Meulen, Joni, Van Roy, Nadine, Van Dorpe, Jo, Creytens, David
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group Ltd and Association of Clinical Pathologists 01.03.2025
BMJ Publishing Group LTD
Subjects
Adipocytes
Adult
Biomarkers, Tumor - analysis
Biomarkers, Tumor - genetics
Collagen
Female
Gene Rearrangement
Genetic Predisposition to Disease
Homeodomain Proteins - genetics
Humans
IMMUNOHISTOCHEMISTRY
In Situ Hybridization, Fluorescence
Kinases
Male
Middle Aged
Morphology
Original research
Pathology, Molecular
Retinoblastoma Binding Proteins - deficiency
Retinoblastoma Binding Proteins - genetics
Sarcoma
Soft Tissue Neoplasms
Soft Tissue Neoplasms - genetics
Soft Tissue Neoplasms - pathology
Tumors
Ubiquitin-Protein Ligases - deficiency
Ubiquitin-Protein Ligases - genetics
United States > US
Arizona
California
Pathology, Molecular
Soft Tissue Neoplasms
IMMUNOHISTOCHEMISTRY
Online AccessGet full text
ISSN0021-9746
1472-4146
1472-4146
DOI10.1136/jcp-2023-209267

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Abstract Aims PRRX1-rearranged mesenchymal tumours are a recently identified and rare subgroup of soft tissue neoplasms with distinct morphological features and genetic alterations. This study aims to further investigate the immunohistochemical profile and underlying genetic alterations in these tumours in order to get more insight on their underlying biology and the unique profile of these tumours.MethodsTwo new molecular confirmed cases of PRRX1-rearranged mesenchymal tumours were thoroughly studied with immunohistochemical stainings (RB1, CD34, ALK and pan-TRK), fluorescence in situ hybridisation (FISH) RB1/13q12 and RNA-based next-generation sequencing.ResultsBoth cases exhibited typical morphological and molecular features, confirming the diagnosis of PRRX1-rearranged mesenchymal tumours. Immunohistochemistry revealed RB1 loss in both cases, which was subsequently confirmed through FISH analysis. Additionally, one case showed focal positivity for CD34, ALK and pan-TRK on immunohistochemistry.ConclusionsWe identified loss of RB1 in two cases of PRRX1-rearranged mesenchymal tumours. This could suggest a potential association with RB1-deficient soft tissue tumours, although further research is necessary. Furthermore, the finding of focal positivity for CD34, ALK and pan-TRK on immunohistochemistry enriches the immunohistochemical profile of these tumours.
AbstractList AimsPRRX1-rearranged mesenchymal tumours are a recently identified and rare subgroup of soft tissue neoplasms with distinct morphological features and genetic alterations. This study aims to further investigate the immunohistochemical profile and underlying genetic alterations in these tumours in order to get more insight on their underlying biology and the unique profile of these tumours.MethodsTwo new molecular confirmed cases of PRRX1-rearranged mesenchymal tumours were thoroughly studied with immunohistochemical stainings (RB1, CD34, ALK and pan-TRK), fluorescence in situ hybridisation (FISH) RB1/13q12 and RNA-based next-generation sequencing.ResultsBoth cases exhibited typical morphological and molecular features, confirming the diagnosis of PRRX1-rearranged mesenchymal tumours. Immunohistochemistry revealed RB1 loss in both cases, which was subsequently confirmed through FISH analysis. Additionally, one case showed focal positivity for CD34, ALK and pan-TRK on immunohistochemistry.ConclusionsWe identified loss of RB1 in two cases of PRRX1-rearranged mesenchymal tumours. This could suggest a potential association with RB1-deficient soft tissue tumours, although further research is necessary. Furthermore, the finding of focal positivity for CD34, ALK and pan-TRK on immunohistochemistry enriches the immunohistochemical profile of these tumours.
PRRX1-rearranged mesenchymal tumours are a recently identified and rare subgroup of soft tissue neoplasms with distinct morphological features and genetic alterations. This study aims to further investigate the immunohistochemical profile and underlying genetic alterations in these tumours in order to get more insight on their underlying biology and the unique profile of these tumours.AIMSPRRX1-rearranged mesenchymal tumours are a recently identified and rare subgroup of soft tissue neoplasms with distinct morphological features and genetic alterations. This study aims to further investigate the immunohistochemical profile and underlying genetic alterations in these tumours in order to get more insight on their underlying biology and the unique profile of these tumours.Two new molecular confirmed cases of PRRX1-rearranged mesenchymal tumours were thoroughly studied with immunohistochemical stainings (RB1, CD34, ALK and pan-TRK), fluorescence in situ hybridisation (FISH) RB1/13q12 and RNA-based next-generation sequencing.METHODSTwo new molecular confirmed cases of PRRX1-rearranged mesenchymal tumours were thoroughly studied with immunohistochemical stainings (RB1, CD34, ALK and pan-TRK), fluorescence in situ hybridisation (FISH) RB1/13q12 and RNA-based next-generation sequencing.Both cases exhibited typical morphological and molecular features, confirming the diagnosis of PRRX1-rearranged mesenchymal tumours. Immunohistochemistry revealed RB1 loss in both cases, which was subsequently confirmed through FISH analysis. Additionally, one case showed focal positivity for CD34, ALK and pan-TRK on immunohistochemistry.RESULTSBoth cases exhibited typical morphological and molecular features, confirming the diagnosis of PRRX1-rearranged mesenchymal tumours. Immunohistochemistry revealed RB1 loss in both cases, which was subsequently confirmed through FISH analysis. Additionally, one case showed focal positivity for CD34, ALK and pan-TRK on immunohistochemistry.We identified loss of RB1 in two cases of PRRX1-rearranged mesenchymal tumours. This could suggest a potential association with RB1-deficient soft tissue tumours, although further research is necessary. Furthermore, the finding of focal positivity for CD34, ALK and pan-TRK on immunohistochemistry enriches the immunohistochemical profile of these tumours.CONCLUSIONSWe identified loss of RB1 in two cases of PRRX1-rearranged mesenchymal tumours. This could suggest a potential association with RB1-deficient soft tissue tumours, although further research is necessary. Furthermore, the finding of focal positivity for CD34, ALK and pan-TRK on immunohistochemistry enriches the immunohistochemical profile of these tumours.
-rearranged mesenchymal tumours are a recently identified and rare subgroup of soft tissue neoplasms with distinct morphological features and genetic alterations. This study aims to further investigate the immunohistochemical profile and underlying genetic alterations in these tumours in order to get more insight on their underlying biology and the unique profile of these tumours. Two new molecular confirmed cases of -rearranged mesenchymal tumours were thoroughly studied with immunohistochemical stainings (RB1, CD34, ALK and pan-TRK), fluorescence in situ hybridisation (FISH) and RNA-based next-generation sequencing. Both cases exhibited typical morphological and molecular features, confirming the diagnosis of -rearranged mesenchymal tumours. Immunohistochemistry revealed RB1 loss in both cases, which was subsequently confirmed through FISH analysis. Additionally, one case showed focal positivity for CD34, ALK and pan-TRK on immunohistochemistry. We identified loss of in two cases of PRRX1-rearranged mesenchymal tumours. This could suggest a potential association with -deficient soft tissue tumours, although further research is necessary. Furthermore, the finding of focal positivity for CD34, ALK and pan-TRK on immunohistochemistry enriches the immunohistochemical profile of these tumours.
Aims PRRX1-rearranged mesenchymal tumours are a recently identified and rare subgroup of soft tissue neoplasms with distinct morphological features and genetic alterations. This study aims to further investigate the immunohistochemical profile and underlying genetic alterations in these tumours in order to get more insight on their underlying biology and the unique profile of these tumours.MethodsTwo new molecular confirmed cases of PRRX1-rearranged mesenchymal tumours were thoroughly studied with immunohistochemical stainings (RB1, CD34, ALK and pan-TRK), fluorescence in situ hybridisation (FISH) RB1/13q12 and RNA-based next-generation sequencing.ResultsBoth cases exhibited typical morphological and molecular features, confirming the diagnosis of PRRX1-rearranged mesenchymal tumours. Immunohistochemistry revealed RB1 loss in both cases, which was subsequently confirmed through FISH analysis. Additionally, one case showed focal positivity for CD34, ALK and pan-TRK on immunohistochemistry.ConclusionsWe identified loss of RB1 in two cases of PRRX1-rearranged mesenchymal tumours. This could suggest a potential association with RB1-deficient soft tissue tumours, although further research is necessary. Furthermore, the finding of focal positivity for CD34, ALK and pan-TRK on immunohistochemistry enriches the immunohistochemical profile of these tumours.
Author Vanwalleghem, Lieve
Ferdinande, Liesbeth
Loontiens, Siebe
Van Dorpe, Jo
Van der Meulen, Joni
Fadaei, Sharareh
Creytens, David
Cordier, Fleur
Dochy, Frederick
Van Den Bossche, Karolien
Van Roy, Nadine
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Issue 3
Keywords Pathology, Molecular
Soft Tissue Neoplasms
IMMUNOHISTOCHEMISTRY
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Snippet Aims PRRX1-rearranged mesenchymal tumours are a recently identified and rare subgroup of soft tissue neoplasms with distinct morphological features and genetic...
-rearranged mesenchymal tumours are a recently identified and rare subgroup of soft tissue neoplasms with distinct morphological features and genetic...
AimsPRRX1-rearranged mesenchymal tumours are a recently identified and rare subgroup of soft tissue neoplasms with distinct morphological features and genetic...
PRRX1-rearranged mesenchymal tumours are a recently identified and rare subgroup of soft tissue neoplasms with distinct morphological features and genetic...
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StartPage 154
SubjectTerms Adipocytes
Adult
Biomarkers, Tumor - analysis
Biomarkers, Tumor - genetics
Collagen
Female
Gene Rearrangement
Genetic Predisposition to Disease
Homeodomain Proteins - genetics
Humans
IMMUNOHISTOCHEMISTRY
In Situ Hybridization, Fluorescence
Kinases
Male
Middle Aged
Morphology
Original research
Pathology, Molecular
Retinoblastoma Binding Proteins - deficiency
Retinoblastoma Binding Proteins - genetics
Sarcoma
Soft Tissue Neoplasms
Soft Tissue Neoplasms - genetics
Soft Tissue Neoplasms - pathology
Tumors
Ubiquitin-Protein Ligases - deficiency
Ubiquitin-Protein Ligases - genetics
Title Revealing RB1 loss in an emerging entity: report of two cases of PRRX1-rearranged mesenchymal tumours
URI https://jcp.bmj.com/content/78/3/154.full
https://www.ncbi.nlm.nih.gov/pubmed/38154915
https://www.proquest.com/docview/2906817412
https://www.proquest.com/docview/3168492146
https://www.proquest.com/docview/2908123032
Volume 78
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