Skip to main content
Erschienen in: International Journal of Hematology 2/2019

25.10.2018 | Case Report

A case of recurrent histiocytic sarcoma with MAP2K1 pathogenic variant treated with the MEK inhibitor trametinib

verfasst von: Tadashi Kumamoto, Yuki Aoki, Tomoko Sonoda, Miho Yamanishi, Ayumu Arakawa, Masanaka Sugiyama, Nami Shirakawa, Sae Ishimaru, Yoshimasa Saito, Akiko Maeshima, Miho Maeda, Chitose Ogawa

Erschienen in: International Journal of Hematology | Ausgabe 2/2019

Einloggen, um Zugang zu erhalten

Abstract

Histiocytic sarcoma in advanced clinical stages is typically an aggressive neoplasm, with poor response to conventional chemotherapy. An 18-year-old male with refractory histiocytic sarcoma that had transformed from Rosai–Dorfman disease was admitted to our hospital. A pathogenic variant of MAP2K1 was detected by next-generation sequencing of tumor specimens. Affected regions showed excellent responses to the MEK inhibitor trametinib. It has been reported that RAS/MEK/ERK pathway is activated in many cases of histiocytic sarcoma. MEK inhibition may represent a useful treatment option in histiocytic sarcoma.
Literatur
1.
Zurück zum Zitat Foucar E, Rosai J, Dorfman R. Sinus histiocytosis with massive lymphadenopathy. An analysis of 14 deaths occurring in a patient registry. Cancer. 1984;54:1834–40.CrossRefPubMed Foucar E, Rosai J, Dorfman R. Sinus histiocytosis with massive lymphadenopathy. An analysis of 14 deaths occurring in a patient registry. Cancer. 1984;54:1834–40.CrossRefPubMed
2.
Zurück zum Zitat Abla O, Jacobsen E, Picarsic J, Krenova Z, Jaffe R, Emile JF, et al. Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease. Blood. 2018;131:2877–90.CrossRefPubMedPubMedCentral Abla O, Jacobsen E, Picarsic J, Krenova Z, Jaffe R, Emile JF, et al. Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease. Blood. 2018;131:2877–90.CrossRefPubMedPubMedCentral
3.
Zurück zum Zitat Facchetti F, Pileri SA, Lorenzi L, Tabanelli V, Rimsza L, Pittaluga S, et al. Histiocytic and dendritic cell neoplasms: what have we learnt by studying 67 cases. Virchows Arch. 2017;471:467–89.CrossRefPubMed Facchetti F, Pileri SA, Lorenzi L, Tabanelli V, Rimsza L, Pittaluga S, et al. Histiocytic and dendritic cell neoplasms: what have we learnt by studying 67 cases. Virchows Arch. 2017;471:467–89.CrossRefPubMed
4.
Zurück zum Zitat Go H, Jeon YK, Huh J, Choi SJ, Choi YD, Cha HJ, et al. Frequent detection of BRAF(V600E) mutations in histiocytic and dendritic cell neoplasms. Histopathology. 2014;65:261–72.CrossRefPubMed Go H, Jeon YK, Huh J, Choi SJ, Choi YD, Cha HJ, et al. Frequent detection of BRAF(V600E) mutations in histiocytic and dendritic cell neoplasms. Histopathology. 2014;65:261–72.CrossRefPubMed
5.
Zurück zum Zitat Liu Q, Tomaszewicz K, Hutchinson L, Hornick JL, Woda B, Yu H. Somatic mutations in histiocytic sarcoma identified by next generation sequencing. Virchows Arch. 2016;469:233–41.CrossRefPubMed Liu Q, Tomaszewicz K, Hutchinson L, Hornick JL, Woda B, Yu H. Somatic mutations in histiocytic sarcoma identified by next generation sequencing. Virchows Arch. 2016;469:233–41.CrossRefPubMed
6.
Zurück zum Zitat Tian X, Xu J, Fletcher C, Hornick JL, Dorfman DM. Expression of enhancer of zeste homolog 2 (EZH2) protein in histiocytic and dendritic cell neoplasms with evidence for p-ERK1/2-related, but not MYC- or p-STAT3-related cell signaling. Mod Pathol. 2018;31:553–61.CrossRefPubMed Tian X, Xu J, Fletcher C, Hornick JL, Dorfman DM. Expression of enhancer of zeste homolog 2 (EZH2) protein in histiocytic and dendritic cell neoplasms with evidence for p-ERK1/2-related, but not MYC- or p-STAT3-related cell signaling. Mod Pathol. 2018;31:553–61.CrossRefPubMed
7.
Zurück zum Zitat Harris MH, DuBois SG, Glade Bender JL, Kim A, Crompton BD, Parker E, et al. Multicenter feasibility study of tumor molecular profiling to inform therapeutic decisions in advanced pediatric solid tumors: the individualized cancer therapy (iCat) study. JAMA Oncol. 2016;2:608–15.CrossRefPubMed Harris MH, DuBois SG, Glade Bender JL, Kim A, Crompton BD, Parker E, et al. Multicenter feasibility study of tumor molecular profiling to inform therapeutic decisions in advanced pediatric solid tumors: the individualized cancer therapy (iCat) study. JAMA Oncol. 2016;2:608–15.CrossRefPubMed
8.
Zurück zum Zitat Worst BC, van Tilburg CM, Balasubramanian GP, Fiesel P, Witt R, Freitag A, et al. Next-generation personalised medicine for high-risk paediatric cancer patients—the INFORM pilot study. Eur J Cancer. 2016;65:91–101.CrossRefPubMed Worst BC, van Tilburg CM, Balasubramanian GP, Fiesel P, Witt R, Freitag A, et al. Next-generation personalised medicine for high-risk paediatric cancer patients—the INFORM pilot study. Eur J Cancer. 2016;65:91–101.CrossRefPubMed
9.
Zurück zum Zitat Mody RJ, Wu YM, Lonigro RJ, Cao X, Roychowdhury S, Vats P, et al. Integrative clinical sequencing in the management of refractory or relapsed cancer in youth. JAMA. 2015;314:913–25.CrossRefPubMedPubMedCentral Mody RJ, Wu YM, Lonigro RJ, Cao X, Roychowdhury S, Vats P, et al. Integrative clinical sequencing in the management of refractory or relapsed cancer in youth. JAMA. 2015;314:913–25.CrossRefPubMedPubMedCentral
10.
Zurück zum Zitat Garces S, Medeiros LJ, Patel KP, Li S, Pina-Oviedo S, Li J, et al. Mutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai-Dorfman disease. Mod Pathol. 2017;30:1367–77.CrossRefPubMedPubMedCentral Garces S, Medeiros LJ, Patel KP, Li S, Pina-Oviedo S, Li J, et al. Mutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai-Dorfman disease. Mod Pathol. 2017;30:1367–77.CrossRefPubMedPubMedCentral
11.
12.
Zurück zum Zitat Arcila ME, Drilon A, Sylvester BE, Lovly CM, Borsu L, Reva B, et al. MAP2K1 (MEK1) mutations define a distinct subset of lung adenocarcinoma associated with smoking. Clin Cancer Res. 2015;21:1935–43.CrossRefPubMed Arcila ME, Drilon A, Sylvester BE, Lovly CM, Borsu L, Reva B, et al. MAP2K1 (MEK1) mutations define a distinct subset of lung adenocarcinoma associated with smoking. Clin Cancer Res. 2015;21:1935–43.CrossRefPubMed
13.
Zurück zum Zitat Voruz S, Cairoli A, Naveiras O, de Leval L, Missiaglia E, Homicsko K, et al. Response to MEK inhibition with trametinib and tyrosine kinase inhibition with imatinib in multifocal histiocytic sarcoma. Haematologica. 2018;103:e39–41.CrossRefPubMedPubMedCentral Voruz S, Cairoli A, Naveiras O, de Leval L, Missiaglia E, Homicsko K, et al. Response to MEK inhibition with trametinib and tyrosine kinase inhibition with imatinib in multifocal histiocytic sarcoma. Haematologica. 2018;103:e39–41.CrossRefPubMedPubMedCentral
Metadaten
Titel
A case of recurrent histiocytic sarcoma with MAP2K1 pathogenic variant treated with the MEK inhibitor trametinib
verfasst von
Tadashi Kumamoto
Yuki Aoki
Tomoko Sonoda
Miho Yamanishi
Ayumu Arakawa
Masanaka Sugiyama
Nami Shirakawa
Sae Ishimaru
Yoshimasa Saito
Akiko Maeshima
Miho Maeda
Chitose Ogawa
Publikationsdatum
25.10.2018
Verlag
Springer Japan
Erschienen in
International Journal of Hematology / Ausgabe 2/2019
Print ISSN: 0925-5710
Elektronische ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-018-2553-9

Weitere Artikel der Ausgabe 2/2019

International Journal of Hematology 2/2019 Zur Ausgabe

Update Onkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.