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

2017 ◽  
Vol 138 (1) ◽  
pp. 24-30 ◽  
Author(s):  
Si-Wook Kim ◽  
Moon Ki Choi ◽  
Hye Sook Han ◽  
Hyojin Song ◽  
Youngil Koh ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Langerhans Cell Histiocytosis ◽  
Tp53 Gene ◽  
Langerhans Cell ◽  
Cell Sarcoma ◽  
Langerhans Cell Sarcoma ◽  
Whole Exome ◽  
Pathological Review ◽  
Cytological Features

Langerhans cell histiocytosis (LCH) and Langerhans cell sarcoma (LCS) are clonal proliferations of Langerhans-type cells. Unlike in LCH, the pathophysiology and clinical course of LCS are unclear due to its rarity. Here, we report the case of a 73-year-old male patient who was diagnosed with cutaneous LCH and pulmonary LCS at the same time. Pathological review of these 2 tumors revealed similar immunohistochemical findings. However, the tumor cells in LCS had more aggressive cytological features than those in LCH. Results of BRAF mutation analysis using real-time PCR were negative for both tumors. In whole-exome sequencing (WES), stop-gain mutations in TP53 gene were discovered only in LCS cells. The mechanism of development of LCS from various progenitor cells is currently unclear. According to the results of the WES study, changes in TP53 gene might have contributed to the malignant features of LCS.

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

2020 ◽  
Vol 70 (11) ◽  
pp. 881-887
Author(s):  
Hiroyuki Katsuragawa ◽  
Yosuke Yamada ◽  
Yoshihiro Ishida ◽  
Yo Kaku ◽  
Masakazu Fujimoto ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Langerhans Cell ◽  
Cell Sarcoma ◽  
Langerhans Cell Sarcoma ◽  
Whole Exome

Somatic activating ARAF mutations in Langerhans cell histiocytosis

Blood ◽  
2014 ◽  
Vol 123 (20) ◽  
pp. 3152-3155 ◽  
Author(s):  
David S. Nelson ◽  
Willemijn Quispel ◽  
Gayane Badalian-Very ◽  
Astrid G. S. van Halteren ◽  
Cor van den Bos ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Novel Mutations ◽  
Whole Exome ◽  
Key Points ◽  
Inhibitor Treatment

Key Points Whole exome sequencing reveals novel mutations in ARAF that activate the kinase and are inhibitable by vemurafenib in a patient with LCH. Requiring the presence of BRAF V600E in LCH to qualify for rat fibrosarcoma inhibitor treatment may be overly exclusionary.

scholarly journals Langerhans Cell Sarcoma Arising from Langerhans Cell Histiocytosis: A Case Report

2006 ◽  
Vol 21 (3) ◽  
pp. 577 ◽  
Author(s):  
Jong-Sil Lee ◽  
Gyung Hyuck Ko ◽  
Ho Cheol Kim ◽  
In Seok Jang ◽  
Kyung-Nyeo Jeon ◽  
...  
Keyword(s):  
Case Report ◽  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Cell Sarcoma ◽  
Langerhans Cell Sarcoma

scholarly journals Langerhans cell sarcoma arising from antecedent langerhans cell histiocytosis

Medicine ◽  
2019 ◽  
Vol 98 (10) ◽  
pp. e14531 ◽  
Author(s):  
Wu Yi ◽  
Wan-yuan Chen ◽  
Tian-xin Yang ◽  
Jian-ping Lan ◽  
Wen-na Liang
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Cell Sarcoma ◽  
Langerhans Cell Sarcoma

scholarly journals Whole-exome sequencing identifies a somatic missense mutation of NBN in clear cell sarcoma of the salivary gland

2016 ◽  
Vol 35 (6) ◽  
pp. 3349-3356 ◽  
Author(s):  
LEI ZHANG ◽  
ZHEN JIA ◽  
FENGBIAO MAO ◽  
YUEYI SHI ◽  
RONG FA BU ◽  
...  
Keyword(s):  
Salivary Gland ◽  
Exome Sequencing ◽  
Missense Mutation ◽  
Whole Exome Sequencing ◽  
Clear Cell ◽  
Clear Cell Sarcoma ◽  
Cell Sarcoma ◽  
Whole Exome

A case of interdigitating dendritic cell sarcoma studied by whole-exome sequencing

2018 ◽  
Vol 40 (12) ◽  
pp. 1279-1285
Author(s):  
Ki Hwan Hong ◽  
Soyoung Song ◽  
Wonseok Shin ◽  
Keunsoo Kang ◽  
Chun-Sung Cho ◽  
...  
Keyword(s):  
Dendritic Cell ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Cell Sarcoma ◽  
Dendritic Cell Sarcoma ◽  
Interdigitating Dendritic Cell Sarcoma ◽  
Whole Exome

scholarly journals Adult Langerhans cell histiocytosis presenting with multisystem involvement and sarcomatoid features: a case report

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Luis E. Aguirre ◽  
Ingrid Schwartz ◽  
Jennifer Chapman ◽  
Marcelo F. Larsen ◽  
Alvaro Alencar
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Poor Prognosis ◽  
Langerhans Cell ◽  
Multisystem Disease ◽  
Cell Sarcoma ◽  
Langerhans Cell Sarcoma ◽  
Disease Biology ◽  
Multisystem Involvement ◽  
Acute Monoblastic Leukemia ◽  
Poor Outcomes

Abstract Background Langerhans cell tumors are rare clonal disorders characterized by neoplastic proliferation of dendritic cells that can be further classified into the subtypes Langerhans cell histiocytosis and Langerhans cell sarcoma, which are rare neoplasms exhibiting aggressive features and a poor prognosis. In addition to illustrating the refractoriness and poor outcomes of multisystem Langerhans cell histiocytosis in adults, specific events in this case highlight important characteristics of disease biology that warrant detailed discussion and exposition to a wider audience. Case presentation We describe the case of a 42-year-old Caucasian man with Langerhans cell histiocytosis diagnosed from a lesion on the left arm that presented with constitutional symptoms, early satiety, and weight loss. Esophagogastroduodenoscopy showed extensive esophageal and duodenal involvement by Langerhans cell histiocytosis with features of Langerhans cell sarcoma. He was initially treated for Langerhans cell histiocytosis with low doses of cytarabine until he eventually presented clear transformation to acute monoblastic leukemia with complex karyotype that could not be properly controlled, leading eventually to death. Conclusions Langerhans cell histiocytosis remains an exceedingly rare entity in adults, frequently presenting as multisystem disease with risk organ involvement. Langerhans cell sarcoma represents an aggressive subtype with extremely poor prognosis for which intensive acute myeloid leukemia induction should be strongly considered.

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