Pulmonary inflammatory leiomyosarcoma represents a potential diagnostic pitfall of DNA methylation-based classification of sarcomas: a case report

Bibliographic Details
Title: Pulmonary inflammatory leiomyosarcoma represents a potential diagnostic pitfall of DNA methylation-based classification of sarcomas: a case report
Authors: Takahiro Shibayama, Kaishi Satomi, Ryota Tanaka, Akihiko Yoshida, Kiyotaka Nagahama, Akimasa Hayashi, Takashi Hibiya, Kazuharu Suda, Masachika Fujiwara, Junji Shibahara
Source: BMC Pulmonary Medicine, Vol 23, Iss 1, Pp 1-6 (2023)
Publisher Information: BMC, 2023.
Publication Year: 2023
Collection: LCC:Diseases of the respiratory system
Subject Terms: Sarcoma, Pulmonary, Inflammatory leiomyosarcoma, DNA methylation, Diseases of the respiratory system, RC705-779
More Details: Abstract Background Pulmonary inflammatory leiomyosarcoma (PILMS) is a rare type of myogenic tumor with prominent lymphohistiocytic infiltration. Despite their histological similarities, PILMS is immunohistochemically and genetically distinct from soft tissue inflammatory leiomyosarcoma, and its clinicopathological picture including DNA methylome data remains still unknown. Case presentation Here we present a case of PILMS in an 18-year-old male who underwent lobectomy. As reported previously, the current case demonstrated spindle myoid cell proliferation with smooth muscle differentiation within a prominent lymphohistiocytic infiltration and a diploid genome with a MUC3A gene alteration. DNA methylation analysis predicted this case to be an “inflammatory myofibroblastic tumor” (IMT) according to the Deutsches Krebsforschungszentrum (DKFZ) classifier. The data was analyzed by t-distributed stochastic neighbor embedding, which plotted the case tumor in the vicinity of IMT, however, there were no IMT histological features. These discordant results could be due to background non-neoplastic inflammatory cells. Conclusions As the DNA methylation classification of PILMS might be a potential diagnostic pitfall, an integrative histological and genetic approach is required for its accurate diagnosis.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 1471-2466
Relation: https://doaj.org/toc/1471-2466
DOI: 10.1186/s12890-023-02624-z
Access URL: https://doaj.org/article/c7c0181bd16c495ca5ef4cd75fad9fdd
Accession Number: edsdoj.7c0181bd16c495ca5ef4cd75fad9fdd
Database: Directory of Open Access Journals
More Details
ISSN:14712466
DOI:10.1186/s12890-023-02624-z
Published in:BMC Pulmonary Medicine
Language:English