Cargando…

Case report: ALK-rearranged spindle and epithelioid cell neoplasms with S100 and CD34 co-expression: Additional evidence of kinase fusion–positive soft tissue tumors

ALK rearrangements have rarely been reported in S100- and CD34-co-expressing soft tissue neoplasms with lipofibromatosis-like neural tumor (LPFNT) pattern or stromal and perivascular hyalinization, mimicking NTRK-rearranged spindle cell tumors. Here, we reported ALK fusions involving related partner...

Descripción completa

Detalles Bibliográficos
Autores principales: Sheng, Shao-Jie, Li, Ju-Ming, Fan, Qin-He, Liu, Yang, Chen, Shao-Yu, Zhao, Ming, Gong, Qi-Xing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9643764/
https://www.ncbi.nlm.nih.gov/pubmed/36387173
http://dx.doi.org/10.3389/fonc.2022.1007296
_version_ 1784826589478912000
author Sheng, Shao-Jie
Li, Ju-Ming
Fan, Qin-He
Liu, Yang
Chen, Shao-Yu
Zhao, Ming
Gong, Qi-Xing
author_facet Sheng, Shao-Jie
Li, Ju-Ming
Fan, Qin-He
Liu, Yang
Chen, Shao-Yu
Zhao, Ming
Gong, Qi-Xing
author_sort Sheng, Shao-Jie
collection PubMed
description ALK rearrangements have rarely been reported in S100- and CD34-co-expressing soft tissue neoplasms with lipofibromatosis-like neural tumor (LPFNT) pattern or stromal and perivascular hyalinization, mimicking NTRK-rearranged spindle cell tumors. Here, we reported ALK fusions involving related partner genes in two adult soft tissue tumors with S100 and CD34 co-expression, and conducted a literature review of mesenchymal tumors harboring ALK or other kinase fusions. Case 1 was a 25-year-old female who underwent excision of a soft tissue mass in the anterior thigh region. Morphologically, the tumor was composed of spindle cells adjacent to epithelioid cells embedded in myxedematous and hyalinized stroma, with infiltrative boundary. Spindle cells mixed with inflammatory infiltration resembling inflammatory myofibroblastic tumor (IMT) were seen sporadically. However, brisk mitosis and focal necrosis was also observed, indicating an intermediate-grade sarcoma. In case 2, the left side of the neck of a 34-year-old man was affected. The tumor was composed of monomorphic spindle cells arranged in fascicular growth or patternless pattern, with stromal and perivascular hyalinization. Sparse inflammatory cell infiltration was also observed. Both tumors showed CD34, S100, and ALK-D5F3 immunoreactivity. Next generation sequencing (NGS) test identified a PLEKHH2::ALK fusion in case 1, which was confirmed by RT-PCR and Sanger sequencing, whereas the RT-PCR (ARMS method) test detected an EML4::ALK fusion in case 2. In conclusion, this study expands the morphological and genetic landscape of tumors with S100 and CD34 co-expression harboring kinase fusions, and suggests that kinase fusion–positive mesenchymal neoplasms are becoming an enlarging entity with a variety of morphological patterns.
format Online
Article
Text
id pubmed-9643764
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-96437642022-11-15 Case report: ALK-rearranged spindle and epithelioid cell neoplasms with S100 and CD34 co-expression: Additional evidence of kinase fusion–positive soft tissue tumors Sheng, Shao-Jie Li, Ju-Ming Fan, Qin-He Liu, Yang Chen, Shao-Yu Zhao, Ming Gong, Qi-Xing Front Oncol Oncology ALK rearrangements have rarely been reported in S100- and CD34-co-expressing soft tissue neoplasms with lipofibromatosis-like neural tumor (LPFNT) pattern or stromal and perivascular hyalinization, mimicking NTRK-rearranged spindle cell tumors. Here, we reported ALK fusions involving related partner genes in two adult soft tissue tumors with S100 and CD34 co-expression, and conducted a literature review of mesenchymal tumors harboring ALK or other kinase fusions. Case 1 was a 25-year-old female who underwent excision of a soft tissue mass in the anterior thigh region. Morphologically, the tumor was composed of spindle cells adjacent to epithelioid cells embedded in myxedematous and hyalinized stroma, with infiltrative boundary. Spindle cells mixed with inflammatory infiltration resembling inflammatory myofibroblastic tumor (IMT) were seen sporadically. However, brisk mitosis and focal necrosis was also observed, indicating an intermediate-grade sarcoma. In case 2, the left side of the neck of a 34-year-old man was affected. The tumor was composed of monomorphic spindle cells arranged in fascicular growth or patternless pattern, with stromal and perivascular hyalinization. Sparse inflammatory cell infiltration was also observed. Both tumors showed CD34, S100, and ALK-D5F3 immunoreactivity. Next generation sequencing (NGS) test identified a PLEKHH2::ALK fusion in case 1, which was confirmed by RT-PCR and Sanger sequencing, whereas the RT-PCR (ARMS method) test detected an EML4::ALK fusion in case 2. In conclusion, this study expands the morphological and genetic landscape of tumors with S100 and CD34 co-expression harboring kinase fusions, and suggests that kinase fusion–positive mesenchymal neoplasms are becoming an enlarging entity with a variety of morphological patterns. Frontiers Media S.A. 2022-10-26 /pmc/articles/PMC9643764/ /pubmed/36387173 http://dx.doi.org/10.3389/fonc.2022.1007296 Text en Copyright © 2022 Sheng, Li, Fan, Liu, Chen, Zhao and Gong https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Sheng, Shao-Jie
Li, Ju-Ming
Fan, Qin-He
Liu, Yang
Chen, Shao-Yu
Zhao, Ming
Gong, Qi-Xing
Case report: ALK-rearranged spindle and epithelioid cell neoplasms with S100 and CD34 co-expression: Additional evidence of kinase fusion–positive soft tissue tumors
title Case report: ALK-rearranged spindle and epithelioid cell neoplasms with S100 and CD34 co-expression: Additional evidence of kinase fusion–positive soft tissue tumors
title_full Case report: ALK-rearranged spindle and epithelioid cell neoplasms with S100 and CD34 co-expression: Additional evidence of kinase fusion–positive soft tissue tumors
title_fullStr Case report: ALK-rearranged spindle and epithelioid cell neoplasms with S100 and CD34 co-expression: Additional evidence of kinase fusion–positive soft tissue tumors
title_full_unstemmed Case report: ALK-rearranged spindle and epithelioid cell neoplasms with S100 and CD34 co-expression: Additional evidence of kinase fusion–positive soft tissue tumors
title_short Case report: ALK-rearranged spindle and epithelioid cell neoplasms with S100 and CD34 co-expression: Additional evidence of kinase fusion–positive soft tissue tumors
title_sort case report: alk-rearranged spindle and epithelioid cell neoplasms with s100 and cd34 co-expression: additional evidence of kinase fusion–positive soft tissue tumors
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9643764/
https://www.ncbi.nlm.nih.gov/pubmed/36387173
http://dx.doi.org/10.3389/fonc.2022.1007296
work_keys_str_mv AT shengshaojie casereportalkrearrangedspindleandepithelioidcellneoplasmswiths100andcd34coexpressionadditionalevidenceofkinasefusionpositivesofttissuetumors
AT lijuming casereportalkrearrangedspindleandepithelioidcellneoplasmswiths100andcd34coexpressionadditionalevidenceofkinasefusionpositivesofttissuetumors
AT fanqinhe casereportalkrearrangedspindleandepithelioidcellneoplasmswiths100andcd34coexpressionadditionalevidenceofkinasefusionpositivesofttissuetumors
AT liuyang casereportalkrearrangedspindleandepithelioidcellneoplasmswiths100andcd34coexpressionadditionalevidenceofkinasefusionpositivesofttissuetumors
AT chenshaoyu casereportalkrearrangedspindleandepithelioidcellneoplasmswiths100andcd34coexpressionadditionalevidenceofkinasefusionpositivesofttissuetumors
AT zhaoming casereportalkrearrangedspindleandepithelioidcellneoplasmswiths100andcd34coexpressionadditionalevidenceofkinasefusionpositivesofttissuetumors
AT gongqixing casereportalkrearrangedspindleandepithelioidcellneoplasmswiths100andcd34coexpressionadditionalevidenceofkinasefusionpositivesofttissuetumors