Top

Published in:

01-02-2019 | Case Report

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

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

Published in: International Journal of Hematology | Issue 2/2019

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.

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

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

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

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

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

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

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

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

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.

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.

Gounder MM, Solit DB, Tap WD. Trametinib in histiocytic sarcoma with an activating MAP2K1 (MEK1) mutation. N Engl J Med. 2018;378:1945–7.CrossRefPubMedPubMedCentral

12.

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.

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

Title: A case of recurrent histiocytic sarcoma with MAP2K1 pathogenic variant treated with the MEK inhibitor trametinib
Authors: Tadashi Kumamoto
Yuki Aoki
Tomoko Sonoda
Miho Yamanishi
Ayumu Arakawa
Masanaka Sugiyama
Nami Shirakawa
Sae Ishimaru
Yoshimasa Saito
Akiko Maeshima
Miho Maeda
Chitose Ogawa
Publication date: 01-02-2019
Publisher: Springer Japan
Published in: International Journal of Hematology / Issue 2/2019
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI: https://doi.org/10.1007/s12185-018-2553-9

Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras

Prof. Fabrice Barlesi

Developed by: Springer Medicine

At a glance: The STEP trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 2/2019

Epstein–Barr virus-related diffuse large B-cell lymphoma in mogamulizumab-treated adult T-cell leukemia with incomplete T-cell reconstitution

Lead poisoning as final diagnosis in a study of normocytic anemia

Villous lymphocytes in splenic large B-cell lymphoma with diffuse red pulp infiltration

Comparison of gabexate mesilate and nafamostat mesilate for disseminated intravascular coagulation associated with hematological malignancies

Hematopoietic stem cell transplantation for subcutaneous panniculitis-like T-cell lymphoma: single center experience in an Asian population

Salvage and bridging to allogeneic hematopoietic cell transplantation with ponatinib in patients with relapsed or refractory Philadelphia chromosome-positive leukemia

Keynote webinar | Spotlight on antibody–drug conjugates in cancer