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1. International expert consensus recommendations for the diagnosis and treatment of Langerhans cell histiocytosis in adults

Author

Goyal, Gaurav, Tazi, Abdellatif, Go, Ronald S., Rech, Karen L., Picarsic, Jennifer L., Vassallo, Robert, Young, Jason R., Cox, Christian W., Van Laar, Jan, Hermiston, Michelle L., Cao, Xin-Xin, Makras, Polyzois, Kaltsas, Gregory, Haroche, Julien, Collin, Matthew, McClain, Kenneth L., Diamond, Eli L., and Girschikofsky, Michael

Published
2022
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2. ALK-positive histiocytosis: a new clinicopathologic spectrum highlighting neurologic involvement and responses to ALK inhibition

Author

Kemps, Paul G., Picarsic, Jennifer, Durham, Benjamin H., Hélias-Rodzewicz, Zofia, Hiemcke-Jiwa, Laura, van den Bos, Cor, van de Wetering, Marianne D., van Noesel, Carel J.M., van Laar, Jan A.M., Verdijk, Robert M., Flucke, Uta E., Hogendoorn, Pancras C.W., Woei-A-Jin, F. J. Sherida H., Sciot, Raf, Beilken, Andreas, Feuerhake, Friedrich, Ebinger, Martin, Möhle, Robert, Fend, Falko, Bornemann, Antje, Wiegering, Verena, Ernestus, Karen, Méry, Tina, Gryniewicz-Kwiatkowska, Olga, Dembowska-Baginska, Bozenna, Evseev, Dmitry A., Potapenko, Vsevolod, Baykov, Vadim V., Gaspari, Stefania, Rossi, Sabrina, Gessi, Marco, Tamburrini, Gianpiero, Héritier, Sébastien, Donadieu, Jean, Bonneau-Lagacherie, Jacinthe, Lamaison, Claire, Farnault, Laure, Fraitag, Sylvie, Jullié, Marie-Laure, Haroche, Julien, Collin, Matthew, Allotey, Jackie, Madni, Majid, Turner, Kerry, Picton, Susan, Barbaro, Pasquale M., Poulin, Alysa, Tam, Ingrid S., El Demellawy, Dina, Empringham, Brianna, Whitlock, James A., Raghunathan, Aditya, Swanson, Amy A., Suchi, Mariko, Brandt, Jon M., Yaseen, Nabeel R., Weinstein, Joanna L., Eldem, Irem, Sisk, Bryan A., Sridhar, Vaishnavi, Atkinson, Mandy, Massoth, Lucas R., Hornick, Jason L., Alexandrescu, Sanda, Yeo, Kee Kiat, Petrova-Drus, Kseniya, Peeke, Stephen Z., Muñoz-Arcos, Laura S., Leino, Daniel G., Grier, David D., Lorsbach, Robert, Roy, Somak, Kumar, Ashish R., Garg, Shipra, Tiwari, Nishant, Schafernak, Kristian T., Henry, Michael M., van Halteren, Astrid G.S., Abla, Oussama, Diamond, Eli L., and Emile, Jean-François

Published
2022
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3. Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era

Author

Goyal, Gaurav, Heaney, Mark L., Collin, Matthew, Cohen-Aubart, Fleur, Vaglio, Augusto, Durham, Benjamin H., Hershkovitz-Rokah, Oshrat, Girschikofsky, Michael, Jacobsen, Eric D., Toyama, Kazuhiro, Goodman, Aaron M., Hendrie, Paul, Cao, Xin-xin, Estrada-Veras, Juvianee I., Shpilberg, Ofer, Abdo, André, Kurokawa, Mineo, Dagna, Lorenzo, McClain, Kenneth L., Mazor, Roei D., Picarsic, Jennifer, Janku, Filip, Go, Ronald S., Haroche, Julien, and Diamond, Eli L.

Published
2020
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5. High prevalence of myeloid neoplasms in adults with non–Langerhans cell histiocytosis

Author

Papo, Matthias, Diamond, Eli L., Cohen-Aubart, Fleur, Emile, Jean-François, Roos-Weil, Damien, Gupta, Nishant, Durham, Benjamin H., Ozkaya, Neval, Dogan, Ahmet, Ulaner, Gary A., Rampal, Raajit, Kahn, Jean-Emmanuel, Sené, Thomas, Charlotte, Frédéric, Hervier, Baptiste, Besnard, Caroline, Bernard, Olivier A., Settegrana, Catherine, Droin, Nathalie, Hélias-Rodzewicz, Zofia, Amoura, Zahir, Abdel-Wahab, Omar, and Haroche, Julien

Published
2017
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7. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages

Author

Emile, Jean-François, Abla, Oussama, Fraitag, Sylvie, Horne, Annacarin, Haroche, Julien, Donadieu, Jean, Requena-Caballero, Luis, Jordan, Michael B., Abdel-Wahab, Omar, Allen, Carl E., Charlotte, Frédéric, Diamond, Eli L., Egeler, R.Maarten, Fischer, Alain, Herrera, Juana Gil, Henter, Jan-Inge, Janku, Filip, Merad, Miriam, Picarsic, Jennifer, Rodriguez-Galindo, Carlos, Rollins, Barret J., Tazi, Abdellatif, Vassallo, Robert, and Weiss, Lawrence M.

Published
2016
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8. Childhood-onset Erdheim-Chester disease in the molecular era: clinical phenotypes and long-term outcomes of 21 patients

Author

Pegoraro, Francesco, Mazzariol, Martina, Trambusti, Irene, Bakhshi, Sameer, Mallick, Saumyaranjan, Dunkel, Ira J., van den Bos, Cor, Tezol, Özlem, Shan, Shijun, Ocak, Suheyla, Giordano, Flavio, De Fusco, Carmela, Gaspari, Stefania, Buccoliero, Anna Maria, Coniglio, Maria Luisa, Buti, Elisa, Romagnani, Paola, Picarsic, Jennifer, Donadieu, Jean, Diamond, Eli L., Emile, Jean-François, Sieni, Elena, Haroche, Julien, and Vaglio, Augusto

Published
2023
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12. Outcomes with MEK Inhibitor Therapy Among Adults with Langerhans Cell Histiocytosis (LCH): A Multi-Institutional Study from the Adult LCH Working Group for the Histiocyte Society

Author

Goyal, Gaurav, Acosta Medina, Aldo Adrian, Cao, Xinxin, Bossert, Dana, Collin, Matthew P., Sr., Makras, Polyzois, Abdel-Wahab, Omar, Abeykoon, Jithma Prasad, Amerikanou, Rodothea, Bach, Corrie, Bennani, N. Nora, Durham, Benjamin Heath, Francis, Jasmine H, Hook, C Christopher, Lang, Min, Lacouture, Mario, Petrova-drus, Kseniya, Rech, Karen L, Rotemberg, Veronica, Ruan, Gordon J, Shah, Mithun V, Yabe, Mariko, Young, Jason R, Zanwar, Saurabh, Go, Ronald S., and Diamond, Eli L.

Published
2023
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15. Functional evidence for derivation of systemic histiocytic neoplasms from hematopoietic stem/progenitor cells

Author

Durham, Benjamin H., Roos-Weil, Damien, Baillou, Claude, Cohen-Aubart, Fleur, Yoshimi, Akihide, Miyara, Makoto, Papo, Matthias, Hélias-Rodzewicz, Zofia, Terrones, Nathalie, Ozkaya, Neval, Dogan, Ahmet, Rampal, Raajit, Urbain, Fanny, Le Fèvre, Lucie, Diamond, Eli L., Park, Christopher Y., Papo, Thomas, Charlotte, Frédéric, Gorochov, Guy, Taly, Valérie, Bernard, Olivier A., Amoura, Zahir, Abdel-Wahab, Omar, Lemoine, François M., Haroche, Julien, and Emile, Jean-François

Published
2017
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19. Activating Mutations in CSF1R and Additional Receptor Tyrosine Kinases in Sporadic and Familial Histiocytic Neoplasms

Author

Durham, Benjamin H, primary, Lopez-Rodrigo, Estibaliz, additional, Abramson, David H, additional, Picarsic, Jennifer, additional, Pastore, Alessandro, additional, Mandelker, Diana, additional, Walsh, Michael Francis, additional, Arcila, Maria E, additional, Ladanyi, Marc, additional, Solit, David, additional, Berger, Michael F., additional, Hyman, David M., additional, Ki, Michelle, additional, Dunkel, Ira, additional, Geissmann, Frederic, additional, Diamond, Eli L, additional, and Abdel-Wahab, Omar I, additional

Published
2018
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20. Characterization of Ntrk fusions and Therapeutic Response to Ntrk Inhibition in Hematologic Malignancies

Author

Taylor, Justin, primary, Marcelus, Christina, additional, Pavlick, Dean, additional, Benayed, Ryma, additional, Yoshimi, Akihide, additional, Cocco, Emiliano, additional, Durham, Benjamin H, additional, Hechtman, Jaclyn F, additional, Chung, Young Rock, additional, Mullaney, Kerry, additional, Watts, Justin M, additional, Diamond, Eli L, additional, Albacker, Lee A, additional, Mughal, Tariq I, additional, Ebata, Kevin, additional, Tuch, Brian B., additional, Ku, Nora, additional, Scaltriti, Maurizio, additional, Arcila, Maria E., additional, Ali, Siraj M, additional, Hyman, David M., additional, Abdel-Wahab, Omar, additional, and Park, Jae H., additional

Published
2017
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22. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease

Author

Emile, Jean-François, Diamond, Eli L., Hélias-Rodzewicz, Zofia, Cohen-Aubart, Fleur, Charlotte, Frédéric, Hyman, David M., Kim, Eunhee, Rampal, Raajit, Patel, Minal, Ganzel, Chezi, Aumann, Shlomzion, Faucher, Gladwys, Le Gall, Catherine, Leroy, Karen, Colombat, Magali, Kahn, Jean-Emmanuel, Trad, Salim, Nizard, Philippe, Donadieu, Jean, Taly, Valérie, Amoura, Zahir, Abdel-Wahab, Omar, and Haroche, Julien

Published
2014
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24. Frequent Clinical Overlap of Histiocytic Neoplasms and WHO-Classified Myeloid Malignancies Leads to Functional Insights into the Cell-of-Origin of Histiocytoses

Author

Durham, Benjamin Heath, primary, Yoshimi, Akihide, additional, Papo, Matthias, additional, Chung, Young Rock, additional, Ozkaya, Neval, additional, Ganzel, Chezi, additional, Dogan, Ahmet, additional, Hyman, David M., additional, Park, Christopher Y., additional, Rampal, Raajit K., additional, Roos Weil, Damien, additional, Lemoine, Francois Michel, additional, Amoura, Zahir, additional, Bernard, Olivier A., additional, Diamond, Eli L., additional, Emile, Jean-François, additional, Haroche, Julien, additional, and Abdel-Wahab, Omar, additional

Published
2016
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25. Vemurafenib in Patients with Erdheim-Chester Disease (ECD) and Langerhans Cell Histiocytosis (LCH) Harboring BRAFV600 Mutations: A Cohort of the Histology-Independent VE-Basket Study

Author

Diamond, Eli L., primary, Subbiah, Vivek, additional, Lockhart, Craig, additional, Blay, Jean-Yves, additional, Faris, Jason E., additional, Puzanov, Igor, additional, Chau, Ian, additional, Raje, Noopur S., additional, Wolf, Jürgen S., additional, Erinjeri, Joe, additional, Torrisi, Jean, additional, Ulaner, Gary, additional, Lacouture, Mario, additional, Robson, Susan, additional, Makrutzki, Martina, additional, Elez, Elena, additional, Tabernero, Josep, additional, Abdel-Wahab, Omar, additional, Baselga, Jose, additional, and Hyman, David M., additional

Published
2016
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26. Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms

Author

Durham, Benjamin Heath, primary, Diamond, Eli L., additional, Haroche, Julien, additional, Yao, Zhan, additional, Ma, Jing, additional, Parikh, Sameer A., additional, Choi, John, additional, Kim, Eunhee, additional, Cohen-Aubart, Fleur, additional, Lee, Stanley Chun-Wei, additional, Gao, Yijun, additional, Micol, Jean-Baptiste, additional, Campbell, Patrick, additional, Walsh, Michael P., additional, Sylvester, Brooke, additional, Dolgalev, Igor, additional, Olga, Aminova, additional, Heguy, Adriana, additional, Zappile, Paul, additional, Nakitandwe, Joy, additional, Dalton, James, additional, Ellison, David W, additional, Estrada-Veras, Juvianee, additional, Lacouture, Mario, additional, Gahl, William A., additional, Stephens, Phil, additional, Miller, Vincent A., additional, Ross, Jeffrey, additional, Ali, Siraj, additional, Héritier, Sebastien, additional, Donadieu, Jean, additional, Solit, David, additional, Hyman, David M., additional, Baselga, Jose, additional, Janku, Filip, additional, Taylor, Barry S., additional, Park, Christopher Y., additional, Dogan, Ahmet, additional, Amoura, Zahir, additional, Emile, Jean-Francois, additional, Rampal, Raajit K., additional, Rosen, Neal, additional, Gruber, Tanja A., additional, and Abdel-Wahab, Omar, additional

Published
2015
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28. Recurrent RASand PIK3CAmutations in Erdheim-Chester disease

Author

Emile, Jean-François, Diamond, Eli L., Hélias-Rodzewicz, Zofia, Cohen-Aubart, Fleur, Charlotte, Frédéric, Hyman, David M., Kim, Eunhee, Rampal, Raajit, Patel, Minal, Ganzel, Chezi, Aumann, Shlomzion, Faucher, Gladwys, Le Gall, Catherine, Leroy, Karen, Colombat, Magali, Kahn, Jean-Emmanuel, Trad, Salim, Nizard, Philippe, Donadieu, Jean, Taly, Valérie, Amoura, Zahir, Abdel-Wahab, Omar, and Haroche, Julien

Abstract

Erdheim-Chester disease (ECD) is a rare histiocytic disorder that is challenging to diagnose and treat. We performed molecular analysis of BRAFin the largest cohort of ECD patients studied to date followed by N/KRAS, PIK3CA, and AKT1mutational analysis in BRAFwild-type patients. Forty-six of 80 (57.5%) of patients were BRAFV600E-mutant. NRASmutations were detected in 3 of 17 ECD BRAFV600E wild-type patients. PIK3CAmutations (p.E542K, p.E545K, p.A1046T, and p.H1047R) were detected in 7 of 55 patients, 4 of whom also had BRAFmutations. Mutant NRASwas present in peripheral blood CD14+cells, but not lymphoid cells, from an NRASQ61R mutant patient. Our results underscore the central role of RAS-RAF-MEK-ERK activation in ECD and identify an important role of activation of RAS-PI3K-AKT signaling in ECD. These results provide a rationale for targeting mutant RAS or PI3K/AKT/mTOR signaling in the subset of ECD patients with NRASor PIK3CAmutations.

Published
2014
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29. Expert consensus recommendations for the diagnosis and treatment of Langerhans cell histiocytosis in adults

Author

Goyal, Gaura v, Tazi, Abdellatif, Go, Ronald S., Rech, Karen L., Picarsic, Jennifer L., Vassallo, Robert, Young, Jason R., Cox, Christian W., Van Laar, Jan, Hermiston, Michelle L., Cao, Xin-Xin, Makras, Polyzois, Kaltsas, Gregory, Haroche, Julien, Collin, Matthew, McClain, Kenneth L., Diamond, Eli L., and Girschikofsky, Michael

Abstract

Langerhans cell histiocytosis (LCH) can affect children and adults with wide variety of clinical manifestations, including unifocal, single-system multifocal, single-system pulmonary (smoking-associated), or multisystem disease. The existing paradigms in the management of LCH in adults are mostly derived from the pediatric literature. Over the last decade, the discovery of clonality and MAPK-ERK pathway mutations in most cases led to the recognition of LCH as a hematopoietic neoplasm, opening the doors for treatment with targeted therapies. These advances have necessitated an update of the existing recommendations for the diagnosis and treatment of LCH in adults. This document presents consensus recommendations that resulted from the discussions at the annual Histiocyte Society meeting in 2019, encompassing clinical features, classification, diagnostic criteria, treatment algorithm, and response assessment for adults with LCH.The recommendations favor the use of 18F-Fluorodeoxyglucose positron emission tomography based imaging for staging and response assessment in majority of cases. Most adults with unifocal disease may be cured by local therapies, while the first-line treatment for single-system pulmonary LCH remains smoking cessation. Among patients not amenable or unresponsive to these treatments and/or have multifocal and multisystem disease, systemic treatments are recommended. Preferred systemic treatments in adults with LCH include cladribine or cytarabine, with emerging role of targeted (BRAF- and MEK-inhibitor) therapies. Despite documented response to treatments, many patients struggle with high symptom burden from pain, fatigue, and mood disorders that should be acknowledged and managed appropriately.

Published
2022
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31. Activating Mutations in CSF1Rand Additional Receptor Tyrosine Kinases in Sporadic and Familial Histiocytic Neoplasms

Author

Durham, Benjamin H, Lopez-Rodrigo, Estibaliz, Abramson, David H, Picarsic, Jennifer, Pastore, Alessandro, Mandelker, Diana, Walsh, Michael Francis, Arcila, Maria E, Ladanyi, Marc, Solit, David, Berger, Michael F., Hyman, David M., Ki, Michelle, Dunkel, Ira, Geissmann, Frederic, Diamond, Eli L, and Abdel-Wahab, Omar I

Abstract

Genomic analyses of histiocytic neoplasms (including Langerhans Cell Histiocytosis (LCH) and the non-LCH Erdheim-Chester Disease (ECD)) have revolutionized our understanding of these disorders as clonal hematopoietic malignancies driven by MAPK signaling and led to FDA approval of vemurafenib for BRAFV600E-mutant ECD. Despite these advances, several questions about the pathogenesis of the histiocytoses remain unanswered. For example, the cell-of-origin of the histiocytoses is not definitively known. In addition, histiocytoses represent a spectrum of diseases, and genetic alterations across histiocytosis subtypes have not been comprehensively evaluated. Finally, although the histiocytoses most commonly occur as sporadic, non-hereditary disorders, familial clustering has been well documented and occurs most often in monozygotic twins. This has been taken to suggest a hereditary component of the disease, but germline genetic causes for histiocytoses are not known. Here we performed comprehensive genomic analyses of 218 patients with all subsets of histiocytoses, including monozygotic twins with histiocytosis. In so doing, we uncover a novel series of activating receptor tyrosine kinase (RTK) alterations in the histiocytoses, including the first example in any disease of recurrent, activating mutations in CSF1R, the RTK required for monocyte/macrophage development.

Published
2018
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32. Characterization of Ntrkfusions and Therapeutic Response to Ntrk Inhibition in Hematologic Malignancies

Author

Taylor, Justin, Marcelus, Christina, Pavlick, Dean, Benayed, Ryma, Yoshimi, Akihide, Cocco, Emiliano, Durham, Benjamin H, Hechtman, Jaclyn F, Chung, Young Rock, Mullaney, Kerry, Watts, Justin M, Diamond, Eli L, Albacker, Lee A, Mughal, Tariq I, Ebata, Kevin, Tuch, Brian B., Ku, Nora, Scaltriti, Maurizio, Arcila, Maria E., Ali, Siraj M, Hyman, David M., Abdel-Wahab, Omar, and Park, Jae H.

Abstract

Chromosomal rearrangements involving the neurotrophic receptor tyrosine kinases NTRK1-3produce oncogenic fusions in a wide variety of adult and pediatric cancers. Although the frequency of NTRKfusions in most cancers is <5%, efficacy in solid tumors harboring these fusions is striking with a 76% durable response rate recently reported with the highly selective pan-TRK inhibitor larotrectinib (LOXO-101) in a cohort comprised of 17 unique tumor types. By contrast, the frequency of NTRKfusions is not well appreciated in hematologic malignancies and targeting of NTRKfusions has not been clinically tested. Herein, we describe the occurrence of NTRKfusions across >7,000 patients with hematologic malignancies and characterize their signal transduction, transforming properties, and response to larotrectinib in vitroand in an AML patient and corresponding patient-derived xenograft (PDX) in vivo.

Published
2017
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33. Vemurafenib in Patients with Erdheim-Chester Disease (ECD) and Langerhans Cell Histiocytosis (LCH) Harboring BRAFV600Mutations: A Cohort of the Histology-Independent VE-Basket Study

Author

Diamond, Eli L., Subbiah, Vivek, Lockhart, Craig, Blay, Jean-Yves, Faris, Jason E., Puzanov, Igor, Chau, Ian, Raje, Noopur S., Wolf, Jürgen S., Erinjeri, Joe, Torrisi, Jean, Ulaner, Gary, Lacouture, Mario, Robson, Susan, Makrutzki, Martina, Elez, Elena, Tabernero, Josep, Abdel-Wahab, Omar, Baselga, Jose, and Hyman, David M.

Abstract

Background: ECD and LCH are rare disorders for which no approved therapies are available. BRAFV600Emutations have been observed in 50% of patients with LCH and in 50-60% of patients with ECD. Here we present data from a planned Week 16 analysis of patients with ECD/LCH who were enrolled in the VE-BASKET study (ClinicalTrials.gov identifier NCT01524978).

Published
2016
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