April, 2020
No. 105 (4)

About the cover

Editorials

Perspective Articles

Review Articles

How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies

David Wu, Xi Luo, Simone Feurstein, Chimene Kesserwan, Shruthi Mohan, Daniel E. Pineda-Alvarez, Lucy A. Godley, on behalf of the collaborative group of the American Society of Hematology - Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel

https://doi.org/10.3324/haematol.2018.214221

Glanzmann thrombasthenia: genetic basis and clinical correlates

Juliana Perez Botero, Kristy Lee, Brian R Branchford, Paul F Bray, Kathleen Freson, Michele P. Lambert, Minjie Luo, Shruthi Mohan, Justyne E. Ross, Wolfgang Bergmeier, Jorge Di Paola

https://doi.org/10.3324/haematol.2018.214239

Articles

Hematopoiesis

Megakaryocyte volume modulates bone marrow niche properties and cell migration dynamics

Maximilian G. Gorelashvili, Oğuzhan Angay, Katherina Hemmen, Vanessa Klaus, David Stegner, Katrin G. Heinze

https://doi.org/10.3324/haematol.2018.202010

RUNX3 levels in human hematopoietic progenitors are regulated by aging and dictate erythroid-myeloid balance

Peter Balogh, Emmalee R. Adelman, John V. Pluvinage, Brian J. Capaldo, Katie C. Freeman, Sandeep Singh, Kamaleldin E. Elagib, Yukio Nakamura, Ryo Kurita, Goro Sashida, Eli R. Zunder, Hui Li, Alejandro A. Gru, Elizabeth A. Price, Stanley L. Schrier, Irving L. Weissman, Maria E. Figueroa, Wendy W. Pang, Adam N. Goldfarb

https://doi.org/10.3324/haematol.2018.208918

Ephrin/Eph receptor interaction facilitates macrophage recognition of differentiating human erythroblasts

Lea A. Hampton-O’Neil, Charlotte E. Severn, Stephen J. Cross, Sonam Gurung, Catherine D. Nobes, Ashley M. Toye

https://doi.org/10.3324/haematol.2018.215160

Red Cell Biology & Its Disorders

ARHGEF12 regulates erythropoiesis and is involved in erythroid regeneration after chemotherapy in acute lymphoblastic leukemia patients

Yangyang Xie, Li Gao, Chunhui Xu, Liming Chu, Lei Gao, Ruichi Wu, Yu Liu, Ting Liu, Xiao-jian Sun, Ruibao Ren, Jingyan Tang, Yi Zheng, Yong Zhou, Shuhong Shen

https://doi.org/10.3324/haematol.2018.210286

Glutathione peroxidase 4 and vitamin E control reticulocyte maturation, stress erythropoiesis and iron homeostasis

Sandro Altamura, Naidu M. Vegi, Philipp S. Hoppe, Timm Schroeder, Michaela Aichler, Axel Walch, Katarzyna Okreglicka, Lothar Hültner, Manuela Schneider, Camilla Ladinig, Cornelia Kuklik-Roos, Josef Mysliwietz, Dirk Janik, Frauke Neff, Birgit Rathkolb, Mar tin Hrabé de Angelis, Christian Buske, Ana Rita da Silva, Katja Muedder, Marcus Conrad, Tomas Ganz, Manfred Kopf, Martina U. Muckenthaler, Georg W. Bornkamm

https://doi.org/10.3324/haematol.2018.212977

Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups

Caoimhe Egan, Alina Nicolae, Justin Lack, Hye-Jung Chung, Shannon Skarshaug, Thu Anh Pham, Winnifred Navarro, Zied Abdullaev, Nadine S. Aguilera, Liqiang Xi, Svetlana Pack, Stefania Pittaluga, Elaine S. Jaffe, Mark Raffeld

https://doi.org/10.3324/haematol.2019.230375

Myelodysplastic Syndrome

Thrombomodulin-expressing monocytes are associated with low-risk features in myelodysplastic syndromes and dampen excessive immune activation

Nathalie van Leeuwen-Kerkhoff, Theresia M. Westers, Pino J. Poddighe, Tanja D. de Gruijl, Shahram Kordasti, Arjan A. van de Loosdrecht

https://doi.org/10.3324/haematol.2019.219303

Chronic Myeloid Leukemia

Leprosy drug clofazimine activates peroxisome proliferator-activated receptor-γ and synergizes with imatinib to inhibit chronic myeloid leukemia cells

Harish Kumar, Sourav Chattopadhyay, Nabanita Das, Sonal Shree, Dinesh Patel, Jogeswar Mohapatra, Anagha Gurjar, Sapana Kushwaha, Abhishek Kumar Singh, Shikha Dubey, Kiran Lata, Rajesh Kushwaha, Riyazuddin Mohammed, Krishnarup Ghosh Dastidar, Namrata Yadav, Achchhe Lal Vishwakarma, Jiaur Rahaman Gayen, Sanghamitra Bandyopadhyay, Abhijit Chatterjee, Mukul Rameshchandra Jain, Anil Kumar Tripathi, Arun Kumar Trivedi, Naibedya Chattopadhyay, Ravishankar Ramachandran, Sabyasachi Sanyal

https://doi.org/10.3324/haematol.2018.194910

Acute Myeloid Leukemia

Mesenchymal stromal cells confer chemoresistance to myeloid leukemia blasts through Side Population functionality and ABC transporter activation

Laetitia Boutin, Pierre Arnautou, Aurélie Trignol, Amandine Ségot, Thomas Farge, Christophe Desterke, Sabrina Soave, Denis Clay, Emmanuel Raffoux, Jean-Emmanuel Sarry, Jean-Valère Malfuson, Jean-Jacques Lataillade, Marie-Caroline Le Bousse-Kerdilès, Adrienne Anginot

https://doi.org/10.3324/haematol.2018.214379

Clinical and preclinical characterization of CD99 isoforms in acute myeloid leukemia

Vijaya Pooja Vaikari, Yang Du, Sharon Wu, Tian Zhang, Klaus Metzeler, Aarif M.N. Batcha, Tobias Herold, Wolfgang Hiddemann, Mojtaba Akhtari, Houda Alachkar

https://doi.org/10.3324/haematol.2018.207001

Acute Lymphoblastic Leukemia

Non-Hodgkin Lymphoma

Daratumumab displays in vitro and in vivo anti-tumor activity in models of B-cell non-Hodgkin lymphoma and improves responses to standard chemo-immunotherapy regimens

Anna Vidal-Crespo, Alba Matas-Céspedes, Vanina Rodriguez, Cédric Rossi, Juan G. Valero, Neus Serrat, Alejandra Sanjuan-Pla, Pablo Menéndez, Gaël Roué, Armando López-Guillermo, Eva Giné, Elías Campo, Dolors Colomer, Christine Bezombes, Jeroen Lammerts van Bueren, Christopher Chiu, Parul Doshi, Patricia Pérez-Galán

https://doi.org/10.3324/haematol.2018.211904

Chronic Lymphocytic Leukemia

HIF-1α is over-expressed in leukemic cells from TP53-disrupted patients and is a promising therapeutic target in chronic lymphocytic leukemia

Valentina Griggio, Candida Vitale, Maria Todaro, Chiara Riganti, Joanna Kopecka, Chiara Salvetti, Riccardo Bomben, Michele Dal Bo, Daniela Magliulo, Davide Rossi, Gabriele Pozzato, Lisa Bonello, Monia Marchetti, Paola Omedè, Ahad Ahmed Kodipad, Luca Laurenti, Giovanni Del Poeta, Francesca Romana Mauro, Rosa Bernardi, Thorsten Zenz, Valter Gattei, Gianluca Gaidano, Robin Foà, Massimo Massaia, Mario Boccadoro, Marta Coscia

https://doi.org/10.3324/haematol.2019.217430

Plasma Cell Disorders

Microhomology-mediated end joining drives complex rearrangements and overexpression of MYC and PVT1 in multiple myeloma

Aneta Mikulasova, Cody Ashby, Ruslana G. Tytarenko, Pingping Qu, Adam Rosenthal, Judith A. Dent, Katie R. Ryan, Michael A. Bauer, Christopher P. Wardell, Antje Hoering, Konstantinos Mavrommatis, Matthew Trotter, Shayu Deshpande, Shmuel Yaccoby, Erming Tian, Jonathan Keats, Daniel Auclair, Graham H. Jackson, Faith E. Davies, Anjan Thakurta, Gareth J. Morgan, Brian A. Walker

https://doi.org/10.3324/haematol.2019.217927

Fractures and survival in multiple myeloma: results from a population-based study

Sigrun Thorsteinsdottir, Gauti Gislason, Thor Aspelund, Ingigerdur Sverrisdottir, Ola Landgren, Ingemar Turesson, Magnus Björkholm, Sigurður Y. Kristinsson

https://doi.org/10.3324/haematol.2019.230011

First-line therapy with either bortezomib-melphalan-prednisone or lenalidomide-dexamethasone followed by lenalidomide for transplant-ineligible multiple myeloma patients: a pooled analysis of two randomized trials

Alessandra Larocca, Roberto Mina, Massimo Offidani, Anna Marina Liberati, Antonio Ledda, Francesca Patriarca, Andrea Evangelista, Stefano Spada, Giulia Benevolo, Daniela Oddolo, Vanessa Innao, Clotilde Cangiolosi, Annalisa Bernardini, Pellegrino Musto, Valeria Amico, Vincenzo Fraticelli, Laura Paris, Nicola Giuliani, Antonietta Pia Falcone, Renato Zambello, Lorenzo De Paoli, Alessandra Romano, Antonio Palumbo, Vittorio Montefusco, Roman Hájek, Mario Boccadoro, Sara Bringhen

https://doi.org/10.3324/haematol.2019.220657

Platelet Biology & its Disorders

Mechanisms of increased mitochondria-dependent necrosis in Wiskott-Aldrich syndrome platelets

Sergey I. Obydennyi, Elena O. Artemenko, Anastasia N. Sveshnikova, Anastasia A. Ignatova, Tatiana V. Varlamova, Stepan Gambaryan, Galina Y. Lomakina, Natalia N. Ugarova, Igor I. Kireev, Fazoil I. Ataullakhanov, Galina A. Novichkova, Aleksey A. Maschan, Anna Shcherbina, Mikhail Panteleev

https://doi.org/10.3324/haematol.2018.214460

Hemostasis

Coagulation & Its Disorders

Correction of bleeding in experimental severe hemophilia A by systemic delivery of factor VIII-encoding mRNA

Jules Russick, Sandrine Delignat, Peter Milanov, Olivier Christophe, Gábor Boros, Cécile V. Denis, Peter J. Lenting, Srinivas V. Kaveri, Sébastien Lacroix-Demazes

https://doi.org/10.3324/haematol.2018.210583

Stem Cell Transplantation

Allogeneic peripheral blood stem cell transplantation with anti-thymocyte globulin versus allogeneic bone marrow transplantation without anti-thymocyte globulin

Frédéric Baron, Jacques-Emmanue Galimard, Myriam Labopin, Ibrahim Yakoub-Agha, Riitta Niittyvuopio, Nicolaus Kröger, Laimonas Griskevicius, Depei Wu, Edouard Forcade, Carlos Richard, Mahmoud Aljurf, Grzegorz Helbig, Hélène Labussière-Wallet, Mohamad Mohty, Arnon Nagler

https://doi.org/10.3324/haematol.2019.227603

Bone Marrow Failure

Effective hematopoietic stem cell-based gene therapy in a murine model of hereditary pulmonary alveolar proteinosis

Miriam Hetzel, Elena Lopez-Rodriguez, Adele Mucci, Ariane Hai Ha Nguyen, Takuji Suzuki, Kenjiro Shima, Theresa Buchegger, Sabine Dettmer, Thomas Rodt, Jens P. Bankstahl, Punam Malik, Lars Knudsen, Axel Schambach, Gesine Hansen, Bruce C. Trapnell, Nico Lachmann, Thomas Moritz

https://doi.org/10.3324/haematol.2018.214866

Blood Transfusion

Transition from fresh frozen plasma to solvent/detergent plasma in the Netherlands: comparing clinical use and transfusion reaction risks

Nicholas H. Saadah, Martin R. Schipperus, Johanna C. Wiersum-Osselton, Marian G. van Kraaij, Camila Caram-Deelder, Erik A.M. Beckers, Anja Leyte, Jan M.M. Rondeel, Karen M.K. de Vooght, Floor Weerkamp, Jaap Jan Zwaginga, Johanna G. van der Bom

https://doi.org/10.3324/haematol.2019.222083

Errata Corrige

Bone Marrow Failure

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients

Minako Mori, Asuka Hira, Kenichi Yoshida, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Michiko Anmae, Jun Yasuda, Shu Tadaka, Kengo Kinoshita, Tomoo Osumi, Yasushi Noguchi, Souichi Adachi, Ryoji Kobayashi, Hiroshi Kawabata, Kohsuke Imai, Tomohiro Morio, Kazuo Tamura, Akifumi Takaori-Kondo, Masayuki Yamamoto, Satoru Miyano, Seiji Kojima, Etsuro Ito, Seishi Ogawa, Keitaro Matsuo, Hiromasa Yabe, Miharu Yabe, Minoru Takata

https://doi.org/10.3324/haematol.2019.245720

Online Only Articles

Predisposition to hematologic malignancies in patients with xeroderma pigmentosum

Karolyn A. Oetjen, Melissa A. Levoska, Deborah Tamura, Sawa Ito, Dorothea Douglas, Sikandar G. Khan, Katherine R. Calvo, Kenneth H. Kraemer, John J. DiGiovanna

https://doi.org/10.3324/haematol.2019.223370

Letters to the Editor

Disappearance of slan-positive non-classical monocytes for diagnosis of chronic myelomonocytic leukemia with an associated inflammatory state

Sihem Tarfi, Bouchra Badaoui, Nicolas Freynet, Margot Morabito, Jeffie Lafosse, Andréa Toma, Gabriel Etienne, Jean-Baptiste Micol, Ivan Sloma, Pierre Fenaux, Eric Solary, Dorothée Selimoglu-Buet, Orianne Wagner-Ballon

https://doi.org/10.3324/haematol.2019.219782

Allogeneic hematopoietic stem cell transplantation for primary central nervous system lymphoma

Thomas Mika, Swetlana Ladigan, Alexander Baraniskin, Deepak Vangala, Sabine Seidel, Olaf Hopfer, Michael Kiehl, Roland Schroers

https://doi.org/10.3324/haematol.2019.227199

A cross-trial comparison of single-agent ibrutinib versus chlorambucil-obinutuzumab in previously untreated patients with chronic lymphocytic leukemia or small lymphocytic lymphoma

Alessandra Tedeschi, Richard Greil, Fatih Demirkan, Tadeusz Robak, Carol Moreno, Paul M. Barr, Bertrand Anz, David Simpson, Gianluca Gaidano, Osnat Bairey, Don Stevens, Devinder Gill, Ian W. Flinn, Thomas J. Kipps, Jan A. Burger, Jennifer Lin, Thomas Webb, Viktor Fedorov, Lori Styles, John G. Gribben

https://doi.org/10.3324/haematol.2019.223743

Excluding myeloma diagnosis using revised thresholds for serum free light chain ratios and M-protein levels

Jennifer L. J. Heaney, Alex Richter, Stella Bowcock, Guy Pratt, J. Anthony Child, Graham Jackson, Gareth Morgan, Ingemar Turesson, Mark T. Drayson

https://doi.org/10.3324/haematol.2019.224360

In vivo generated hematopoietic stem cells from genome edited induced pluripotent stem cells are functional in platelet-targeted gene therapy of murine hemophilia A

Dawei Wang, Guowei Zhang, Junjie Gu, Xiaohu Shao, Yuting Dai, Jianfeng Li, Xiaohong Pan, Shuxian Yao, Aining Xu, Ying Jin, Jinyan Huang, Qizhen Shi, Jiang Zhu, Xiaodong Xi, Zhu Chen, Saijuan Chen

https://doi.org/10.3324/haematol.2019.219089

Profiling the mutational landscape of coagulation factor V deficiency

Elvezia Maria Paraboschi, Marzia Menegatti, Valeria Rimoldi, Munira Borhany, Magy Abdelwahab, Donato Gemmati, Flora Peyvandi, Stefano Duga, Rosanna Asselta

https://doi.org/10.3324/haematol.2019.232587

Comparative evaluation of biological human leukocyte antigen DPB1 mismatch models for survival and graft-versus-host disease prediction after unrelated donor hematopoietic cell transplantation

Francesca Lorentino, Nicoletta Sacchi, Elena Oldani, Valeria Miotti, Alessandra Picardi, Anna Maria Gallina, Pietro Crivello, Paolo Bernasconi, Riccardo Saccardi, Lucia Farina, Fabio Benedetti, Michela Cerno, Anna Grassi, Benedetto Bruno, Francesca Patriarca, Fabio Ciceri, Katharina Fleischhauer, Luca Vago, Francesca Bonifazi

https://doi.org/10.3324/haematol.2019.225177

Phase I study of cellular therapy using ex vivo expanded natural killer cells from autologous peripheral blood mononuclear cells combined with rituximab-containing chemotherapy for relapsed CD20-positive malignant lymphoma patients

Junji Tanaka, Norina Tanaka, Yan-Hua Wang, Kenjiro Mitsuhashi, Michiko Ryuzaki, Yuki Iizuka, Aya Watanabe, Midori Ishiyama, Akihito Shinohara, Hiroshi Kazama, Shotaro Hagiwara, Kentaro Yoshinaga, Yumi Kougen, Hirohito Kobayashi, Hitoshi Kanno, Masayuki Shiseki

https://doi.org/10.3324/haematol.2019.226696

Case Report

De novo primary central nervous system pure erythroid leukemia/sarcoma with t(1;16)(p31;q24) NFIA/CBFA2T3 translocation

Huifei Liu, Terri L. Guinipero, Kathleen M. Schieffer, Chris Carter, Susan Colace, Jeffrey R. Leonard, Brent A. Orr, Samir B. Kahwash, Patrick J. Brennan, James R. Fitch, Benjamin Kelly, Vincent J. Magrini, Peter White, Richard K. Wilson, Elaine R. Mardis, Catherine E. Cottrell, Daniel R. Boué

https://doi.org/10.3324/haematol.2019.231928

Clinical and laboratory characteristics of cyclic thrombocytopenia: an observational study

Oskar Steinbrecher, Mirjana Mitrovic, Lisbeth Eischer, Hana Šinkovec, Sabine Eichinger, Paul A. Kyrle

https://doi.org/10.3324/haematol.2019.237909

Cryptic insertion of MYC exons 2 and 3 into the immunoglobulin heavy chain locus detected by whole genome sequencing in a case of “MYC-negative” Burkitt lymphoma

Rabea Wagener, Susanne Bens, Umut H. Toprak, Julian Seufert, Cristina López, Ingrid Scholz, Heidi Herbrueggen, Ilske Oschlies, Stephan Stilgenbauer, Matthias Schlesner, Wolfram Klapper, Birgit Burkhardt, Reiner Siebert

https://doi.org/10.3324/haematol.2018.208140