A Case of Pulmonary Langerhans Cell Sarcoma Simultaneously Diagnosed with Cutaneous Langerhans Cell Histiocytosis Studied by Whole-Exome Sequencing

Kim, Si Wook; Choi, Moon Ki; Han, Hye Sook; Song, Hyojin; Koh, Young Il; Son, Seung-Myoung; Lee, Ok Jun; Lee, Ji Yeoun; Lee, Ki Man; Lee, Ki Hyeong; Kwon, Jihyun

doi:10.1159/000476026

Cited by 8 publications

(5 citation statements)

References 18 publications

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“…The efforts by Karai et al have been beneficial in providing an insight that mutations within the TP53 gene can also be associated with LCS [52]. This finding was also further supported within the case report published by Kim et al, which also discussed on the presence of TP53 mutations in LCS as well as presenting us with a whole exonome analysis of LCS [12]. A further report published by Katsuragawa et al, also discussed about TP53 mutations and its presence within LCS; this report also discussed about CDKN2A deletion, which has rarely been seen within LCS [53].…”

Section: Discussionmentioning

confidence: 59%

“…It is also important to mention that LCS should not be confused with langerhans cell histiocytosis (LCH), which has a shared cellular origin to that of LCS. Although having identical lineage, LCH and LCS morphology differs from one another with LCH having monoclonal proliferation and having benign course while LCS has been observed to have more malignant features and an unfavorable prognosis [12,13]. It is widely accepted that LCH, which presents with increased numbers of atypical tumor cells should be considered as LCS and be regarded as a separate entity [2,14,15].…”

Section: Introductionmentioning

confidence: 99%

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Exploring the current status and trends of research on Langerhans Cell Sarcoma: A bibliometric analysis

et al. 2023

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Langerhans cell sarcoma (LCS) is a highly malignant neoplasm exhibiting<b> </b>aggressive clinical behavior. In this study, we aimed to explore the current status and trends of research on LCS by doing a bibliometric analysis. Data on LCS were retrieved from the Web of Science database and a bibliometric analysis was conducted to measure the impact of publications, authors, organizations, and countries. Different software packages, including BiblioAnalytics, Bibliomaster, MS Excel, MS Access, VOSviewer, Biblioshiny, Power BI, and an online visualization platform were used for analysis and visualization in the present study. A total of 96 publications were included in the present bibliometric analysis. Authors “Lebbe C”, “Lorillon G”, “Mourah S”, and “Tazi A” received the highest number of citations, and the journal “Histopathology” received the highest number of citations. The outstanding organization was the Mayo Clinic in the USA with the highest number of 5 publications and the highest number of 175 citations. Japan and the USA were the outstanding countries that contributed to the research on LCS. Current literature on LCS is minimal, which stresses the need for more research productivity, especially within areas regarding diagnosis and immunohistochemical staining with CD markers for this pathology.

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Section: Discussionmentioning

confidence: 59%

Section: Introductionmentioning

confidence: 99%

Exploring the current status and trends of research on Langerhans Cell Sarcoma: A bibliometric analysis

et al. 2023

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“…Kim et al, has discovered the stop-gain mutation in TP53 gene in Langerhans cell sarcoma through WES. Both the NGS and ES identified promoter, coding and non-coding variations in maximum all the diseases/disorders [17]. Several studies have confirmed both the NGS and ES has high successful rate in the clinical and medical genetics.…”

Section: Introductionmentioning

confidence: 84%

Untitled

2017

GGS

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Exposing the genetic and inherited disparities on human health and diseases has become the major scientific challenges in 21 st century. Human genome sequencing and Celera Genomics has published the different versions on human genome. Human Genome Project (HGP), an international project sequenced the human DNA and nucleotide sequences which recognizes and maps all the genes of the human genome. Till now 2.91 billion base pair consensus sequences

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“…A literature searched revealed ten English‐language papers reporting genetic alterations in LCS 3–8,10–13 . Six case reports, 3–8 three of which included WES data, 4–6 indicated causative alterations such as mutations related to activation of the MAPK pathway ( BRAF , KRAS , MAPK2A1 or NRAS ), homozygous deletions of CDKN2A/(2B) , and/or a loss‐of‐function mutation of TP53 (Table 1). The present case also exhibited CDKN2A deletion and a pathogenic missense mutation in TP53 (Fig.…”

Section: Discussionmentioning

confidence: 99%

“…However, the underlying molecular features of LCS that could explain its aggressive behavior or pathogenesis, and lead to the development of more effective treatment strategies, are poorly understood, except for the reported presence of a few genetic alterations, such as mutations of MAPK‐related genes, CDKN2A or TP53 3–8 …”

Section: Introductionmentioning

confidence: 99%

A case of Langerhans cell sarcoma on the scalp: Whole‐exome sequencing reveals a role of ultraviolet in the pathogenesis

Katsuragawa

Yamada

Ishida

et al. 2020

Pathology International

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Langerhans cell sarcoma (LCS) is a high‐grade neoplasm with overtly malignant cytological features and a Langerhans cell phenotype. The underlying genetic features are poorly understood, and only a few alterations, such as those of the MARK pathway‐related genes, CDKN2A and TP53 have been reported. Here we present a 70‐year‐old male with LCS on the scalp and pulmonary metastasis. The multinodular tumor, 3.0 cm in diameter, consisted of diffusely proliferated pleomorphic cells with numerous mitoses (53/10 HPFs). Immunohistochemically, the tumor cells were positive for CD1a, Langerin and PD‐L1, and the Ki‐67 labeling index was 50%. These pathological features were consistent with LCS, and were also observed in the metastatic tumor. Whole‐exome sequencing revealed that both the primary and metastatic tumors harbored a large number of mutations (>20 mutations/megabase), with deletion of CDKN2A and TP53 mutation, and highlighted that the mutational signature was predominantly characteristic of ultraviolet (UV) exposure (W = 0.828). Our results suggest, for the first time, that DNA damage by UV could accumulate in Langerhans cells and play a role in the pathogenesis of LCS. The high mutational burden and PD‐L1 expression in the tumor would provide a rationale for the use of immune checkpoint inhibitors for treatment of unresectable LCS.

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A Case of Pulmonary Langerhans Cell Sarcoma Simultaneously Diagnosed with Cutaneous Langerhans Cell Histiocytosis Studied by Whole-Exome Sequencing

Cited by 8 publications

References 18 publications

Exploring the current status and trends of research on Langerhans Cell Sarcoma: A bibliometric analysis

Exploring the current status and trends of research on Langerhans Cell Sarcoma: A bibliometric analysis

Untitled

A case of Langerhans cell sarcoma on the scalp: Whole‐exome sequencing reveals a role of ultraviolet in the pathogenesis

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