Evidence-based risk stratification of myeloid neoplasms harboring TP53 mutations

Authors: Shah, Mithun Vinod ^{1, ∗}, Hung, Kevin ², Baranwal, Anmol ¹, Kutyna, Monika ^{2, 4}, Al-Kali, Aref ¹, Toop, Carla ^{2, 3}, Greipp, Patricia ⁵, Brown, Anna ^{6, 7}, Shah, Syed ¹, Khanna, Shreyas ², Ladon, Dariusz ⁷, Gannamani, Vedavyas ¹, Chen, Dong ⁵, Begna, Kebede ¹, Price, Zoe K. ^{3, 4}, Rud, Danielle ¹, Litzow, Mark R. ¹, Hogan, William J. ¹, Bardy, Peter ², Badar, Talha ⁸, Kumar, Sharad ⁶, Yeung, David T. ^{2, 3}, Patnaik, Mrinal M. ¹, Foran, James M. ⁹, He, Rong ⁵, Gangat, Naseema ¹, Scott, Hamish S. ^{6, 7}, Arana Yi, Cecilia Y. ⁸, Alkhateeb, Hassan ¹, Mangaonkar, Abhishek A. ¹, Thomas, Daniel ^{2, 3, 4}, Hahn, Christopher N. ^{6, 7}, Orazi, Attilio ¹⁰, Arber, Daniel A. ¹¹, Kok, Chung Hoow ^{4, 6, 7}, Tefferi, Ayalew ¹, Hiwase, Devendra ^{2, 3, 4, 6, ∗∗}

Source: In Blood Advances February 2025

Germline genetic variants that predispose to myeloproliferative neoplasms and hereditary myeloproliferative phenotypes

Authors: Lim, Jonathan, Ross, David M., Brown, Anna L., Scott, Hamish S., Hahn, Christopher N.

Source: In Leukemia Research November 2024 146

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

Authors: Baliakas, Panagiotis, Blombery, Piers, Fox, Lucy C., Donadieu, Jean, Rio-Machin, Ana, Steinberg-Shemer, Orna, Morgan, Neil V., Ngeow, Joanne Y. Y., Skokowa, Julia, Pinese, Mark, Cowley, Mark J., Zerella, Jiarna R., Homan, Claire C., Arts, Peer, Lin, Xuzhu, Spinelli, Sam J., Venugopal, Parvathy, Babic, Milena, Brautigan, Peter J., Truong, Lynda, Arriola-Martinez, Luis, Moore, Sarah, Hollins, Rachel, Parker, Wendy T., Nguyen, Hung, Kassahn, Karin S., Branford, Susan, Feurstein, Simone, Larcher, Lise, Sicre de Fontbrune, Flore, Demirdas, Serwet, de Munnik, Sonja, Antoine-Poirel, Hélène, Brichard, Benedicte, Mansour, Sahar, Gordon, Kristiana, Wlodarski, Marcin W., Koppayi, Ashwin, Dobbins, Sara, Mutsaers, Pim G. N. J., Nichols, Kim E., Oak, Ninad, DeMille, Desiree, Mao, Rong, Crawford, Ali, McCarrier, Julie, Basel, Donald, Flores-Daboub, Josue, Drazer, Michael W., Phillips, Kerry, Poplawski, Nicola K., Birdsey, Graeme M., Pirri, Daniela, Ostergaard, Pia, Simons, Annet, Godley, Lucy A., Ross, David M., Hiwase, Devendra K., Soulier, Jean, Brown, Anna L., Carmichael, Catherine L., Scott, Hamish S., Hahn, Christopher N.

Source: In Blood 24 October 2024 144(17):1765-1780

Novel modes of MPL activation in triple-negative myeloproliferative neoplasms

Authors: Samaraweera, Saumya E., Geukens, Tatjana, Casolari, Debora A., Nguyen, Tran, Sun, Caitlyn, Bailey, Sheree, Moore, Sarah, Feng, Jinghua, Schreiber, Andreas W., Parker, Wendy T., Brown, Anna L., Butcher, Carolyn, Bardy, Peter G., Osborn, Michael, Scott, Hamish S., Talaulikar, Dipti, Grove, Carolyn S., Hahn, Christopher N., D'Andrea, Richard J., Ross, David M.

Source: Pathology. 55(1):77-85

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180536617.0x000001&indx=1&recIds=ETOCvdc_100180536617.0x000001

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

Authors: Homan, Claire C., Drazer, Michael W., Yu, Kai, Lawrence, David M., Feng, Jinghua, Arriola-Martinez, Luis, Pozsgai, Matthew J., McNeely, Kelsey E., Ha, Thuong, Venugopal, Parvathy, Arts, Peer, King-Smith, Sarah L., Cheah, Jesse, Armstrong, Mark, Wang, Paul, Bödör, Csaba, Cantor, Alan B., Cazzola, Mario, Degelman, Erin, DiNardo, Courtney D., Duployez, Nicolas, Favier, Remi, Fröhling, Stefan, Rio-Machin, Ana, Klco, Jeffery M., Krämer, Alwin, Kurokawa, Mineo, Lee, Joanne, Malcovati, Luca, Morgan, Neil V., Natsoulis, Georges, Owen, Carolyn, Patel, Keyur P., Preudhomme, Claude, Raslova, Hana, Rienhoff, Hugh, Ripperger, Tim, Schulte, Rachael, Tawana, Kiran, Velloso, Elvira, Yan, Benedict, Kim, Erika, Sood, Raman, Hsu, Amy P., Holland, Steven M., Phillips, Kerry, Poplawski, Nicola K., Babic, Milena, Wei, Andrew H., Forsyth, Cecily, Mar Fan, Helen, Lewis, Ian D., Cooney, Julian, Susman, Rachel, Fox, Lucy C., Blombery, Piers, Singhal, Deepak, Hiwase, Devendra, Phipson, Belinda, Schreiber, Andreas W., Hahn, Christopher N., Scott, Hamish S., Liu, Paul, Godley, Lucy A., Brown, Anna L.

Source: In Blood Advances 24 October 2023 7(20):6092-6107

Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma

Authors: Flerlage, Jamie E., Myers, Jason R., Maciaszek, Jamie L., Oak, Ninad, Rashkin, Sara R., Hui, Yawei, Wang, Yong-Dong, Chen, Wenan, Wu, Gang, Chang, Ti-Cheng, Hamilton, Kayla, Tithi, Saima S., Goldin, Lynn R., Rotunno, Melissa, Caporaso, Neil, Vogt, Aurélie, Flamish, Deborah, Wyatt, Kathleen, Liu, Jia, Tucker, Margaret, Hahn, Christopher N., Brown, Anna L., Scott, Hamish S., Mullighan, Charles, Nichols, Kim E., Metzger, Monika L., McMaster, Mary L., Yang, Jun J., Rampersaud, Evadnie

Source: In Blood 16 March 2023 141(11):1293-1307

Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies

Authors: Saygin, Caner, Roloff, Gregory, Hahn, Christopher N., Chhetri, Rakchha, Gill, Saar, Elmariah, Hany, Talati, Chetasi, Nunley, Emma, Gao, Guimin, Kim, Aelin, Bishop, Michael, Kosuri, Satyajit, Das, Soma, Singhal, Deepak, Venugopal, Parvathy, Homan, Claire C., Brown, Anna, Scott, Hamish S., Hiwase, Devendra, Godley, Lucy A.

Source: In Blood Advances 28 February 2023 7(4):549-554

A practical guide to interpreting germline variants that drive hematopoietic malignancies, bone marrow failure, and chronic cytopenias

Authors: Feurstein, Simone, Hahn, Christopher N., Mehta, Nikita, Godley, Lucy A.

Source: In Genetics in Medicine April 2022 24(4):931-954

GATA2 deficiency syndrome: A decade of discovery

Authors: Homan, Claire C., Venugopal, Parvathy, Arts, Peer, Shahrin, Nur H., Feurstein, Simone, Rawlings, Lesley, Lawrence, David M., Andrews, James, King‐Smith, Sarah L., Harvey, Natasha L., Brown, Anna L., Scott, Hamish S., Hahn, Christopher N.

Source: Human mutation. 42(11):1399-1421

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100132571851.0x000001&indx=1&recIds=ETOCvdc_100132571851.0x000001

Childhood acute myeloid leukemia shows a high level of germline predisposition

Authors: Samaraweera, Saumya E., Wang, Paul P.S., Li, Ka Leung, Casolari, Debora A., Feng, Jinghua, Pinese, Mark, Maung, Kyaw Ze Ya, Leo, Paul, Cowley, Mark, Perkins, Kelly, Smith, Amanda M., Ellis, Jonathan, Wee, Amilia, Hiwase, Devendra K., Scott, Hamish S., Schreiber, Andreas W., Brown, Anna L., Deans, Andrew J., Ross, David M., Moore, Andrew S., Gonda, Thomas J., Hahn, Christopher N., D'Andrea, Richard J.

Source: Blood. 138(22):2293-2298

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183247801.0x000001&indx=1&recIds=ETOCvdc_100183247801.0x000001

Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)

Authors: Brown, Anna L. ^{1, 2, 3}, Hahn, Christopher N. ^{1, 2, 3}, Scott, Hamish S. ^{1, 1, 2, 3, 4}

Source: In Blood 2 July 2020 136(1):24-35

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

Authors: Brown, Anna L. ^{*, *}, Arts, Peer ^*, Carmichael, Catherine L., Babic, Milena, Dobbins, Julia, Chong, Chan-Eng, Schreiber, Andreas W., Feng, Jinghua, Phillips, Kerry, Wang, Paul P.S., Ha, Thuong, Homan, Claire C., King-Smith, Sarah L., Rawlings, Lesley, Vakulin, Cassandra, Dubowsky, Andrew, Burdett, Jessica, Moore, Sarah, McKavanagh, Grace, Henry, Denae, Wells, Amanda, Mercorella, Belinda, Nicola, Mario, Suttle, Jeffrey, Wilkins, Ella, Li, Xiao-Chun, Michaud, Joelle ^*, Brautigan, Peter, Cannon, Ping, Altree, Meryl, Jaensch, Louise, Fine, Miriam, Butcher, Carolyn, D'Andrea, Richard J., Lewis, Ian D., Hiwase, Devendra K., Papaemmanuil, Elli, Horwitz, Marshall S., Natsoulis, Georges, Rienhoff, Hugh Y., Jr, Patton, Nigel, Mapp, Sally, Susman, Rachel, Morgan, Susan, Cooney, Julian, Currie, Mark, Popat, Uday, Bochtler, Tilmann, Izraeli, Shai, Bradstock, Kenneth, Godley, Lucy A., Krämer, Alwin, Fröhling, Stefan, Wei, Andrew H., Forsyth, Cecily, Mar Fan, Helen, Poplawski, Nicola K., Hahn, Christopher N. ^{*, *}, Scott, Hamish S. ^{*, *}

Source: In Blood Advances 24 March 2020 4(6):1131-1144

A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability

Authors: Fox, Lucy C., Tan, Michelle, Brown, Anna L., Arts, Peer, Thompson, Ella, Ryland, Georgina L., Lickiss, Jennifer, Scott, Hamish S., Poplawski, Nicola K., Phillips, Kerry, Came, Neil A., James, Paul, Ting, Stephen B., Ritchie, David S., Szer, Jeff, Hahn, Christopher N., Schwarer, Anthony, Blombery, Piers

Source: British journal of haematology. 190(5):e297-e301

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131411348.0x000001&indx=1&recIds=ETOCvdc_100131411348.0x000001

A Vascular Cell-Restricted RhoGAP, p73RhoGAP, Is a Key Regulator of Angiogenesis

Authors: Su, Zhi-Jian, Hahn, Christopher N., Goodall, Gregory J., Reck, Niamh M., Leske, Annabell F., Davy, Ann, Kremmidiotis, Gabriel, Vadas, Mathew A., Gamble, Jennifer R.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2004 Aug . 101(33), 12212-12217.

Access URL: https://www.jstor.org/stable/3373116

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

Authors: Zerella, Jiarna R., Homan, Claire C., Arts, Peer, Lin, Xuzhu, Spinelli, Sam J., Venugopal, Parvathy, Babic, Milena, Brautigan, Peter J., Truong, Lynda, Arriola-Martinez, Luis, Moore, Sarah, Hollins, Rachel, Parker, Wendy T., Nguyen, Hung, Kassahn, Karin S., Branford, Susan, Feurstein, Simone, Larcher, Lise, Sicre de Fontbrune, Flore, Demirdas, Serwet, de Munnik, Sonja, Antoine-Poirel, Hélène, Brichard, Benedicte, Mansour, Sahar, Gordon, Kristiana, Baliakas, Panagiotis, Blombery, Piers, Fox, Lucy C., Donadieu, Jean, Rio-Machin, Ana, Steinberg-Shemer, Orna, Morgan, Neil V., Ngeow, Joanne Y. Y., Skokowa, Julia, Pinese, Mark, Cowley, Mark J., Wlodarski, Marcin W., Koppayi, Ashwin, Dobbins, Sara, Mutsaers, Pim G. N. J., Nichols, Kim E., Oak, Ninad, DeMille, Desiree, Mao, Rong, Crawford, Ali, McCarrier, Julie, Basel, Donald, Flores-Daboub, Josue, Drazer, Michael W., Phillips, Kerry, Poplawski, Nicola K., Birdsey, Graeme M., Pirri, Daniela, Ostergaard, Pia, Simons, Annet, Godley, Lucy A., Ross, David M., Hiwase, Devendra K., Soulier, Jean, Brown, Anna L., Carmichael, Catherine L., Scott, Hamish S., Hahn, Christopher N.

Source: Blood; October 2024, Vol. 144 Issue: 17 p1765-1780, 16p

A Method for Next-Generation Sequencing of Paired Diagnostic and Remission Samples to Detect Mitochondrial DNA Mutations Associated with Leukemia

Authors: Pagani, Ilaria S., Kok, Chung H., Saunders, Verity A., Van der Hoek, Mark B., Heatley, Susan L., Schwarer, Anthony P., Hahn, Christopher N., Hughes, Timothy P., White, Deborah L., Ross, David M.

Source: In The Journal of Molecular Diagnostics September 2017 19(5):711-721

T cell receptor assessment in autoimmune disease requires access to the most adjacent immunologically active organ

Authors: Oftedal, Bergithe E., Ardesjö Lundgren, Brita, Hamm, David, Gan, Poh-Yi, Holdsworth, Stephen R., Hahn, Christopher N., Schreiber, Andreas W., Scott, Hamish S.

Source: In Journal of Autoimmunity July 2017 81:24-33

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion

Authors: Venugopal, Parvathy, Arts, Peer, Fox, Lucy C., Simons, Annet, Hiwase, Devendra K., Bardy, Peter G., Swift, Annette, Ross, David M., van Vulpen, Lize F. D., Buijs, Arjan, Bolton, Kelly L., Getta, Bartlomiej, Furlong, Eliska, Carter, Tina, Krapels, Ingrid, Hoeks, Marlijn, Al Kindy, Adila, Al Kindy, Farah, de Munnik, Sonja, Evans, Pamela, Frank, Mahalia S. B., Bournazos, Adam M., Cooper, Sandra T., Ha, Thuong Thi, Jackson, Matilda R., Arriola-Martinez, Luis, Phillips, Kerry, Brennan, Yvonne, Bakshi, Madhura, Ambler, Karen, Gao, Song, Kassahn, Karin S., Kenyon, Rosalie, Hung, Kevin, Babic, Milena, McGovern, Alan, Rawlings, Lesley, Vakulin, Cassandra, Dejong, Lucas, Fathi, Rema, McRae, Simon, Myles, Nicholas, Ladon, Dariusz, Jongmans, Marjolijn, Kuiper, Roland P., Poplawski, Nicola K., Barbaro, Pasquale, Blombery, Piers, Brown, Anna L., Hahn, Christopher N., Scott, Hamish S.

Source: In Blood Advances 9 July 2024 8(13):3437-3443

IDH-mutant myeloid neoplasms are associated with seronegative rheumatoid arthritis and innate immune activation

Authors: Hong, Lih En, Wechalekar, Mihir D., Kutyna, Monika, Small, Annabelle, Lim, Kelly, Thompson-Peach, Chloe, Li, Joule J., Chhetri, Rakchha, Scott, Hamish S., Brown, Anna, Hahn, Christopher N., Yeung, David T., Sajid, Salvia, Robinson, Nirmal, Thomas, Ranjeny, Branford, Susan, D’Andrea, Richard J., Samaraweera, Saumya E., Patnaik, Mrinal, Proudman, Susanna, Thomas, Daniel, Kok, Chung Hoow, Shah, Mithun V., Hiwase, Devendra K.

Source: In Blood 2 May 2024 143(18):1873-1877

Correction of Murine Galactosialidosis by Bone Marrow-Derived Macrophages Overexpressing Human Protective Protein/Cathepsin A under Control of the Colony-Stimulating Factor-1 Receptor Promoter

Authors: Hahn, Christopher N., Zhou, Xiao-Yan, Mann, Linda W., d'Azzo, Alessandra

Source: Proceedings of the National Academy of Sciences of the United States of America, 1998 Dec 01. 95(25), 14880-14885.

Access URL: https://www.jstor.org/stable/46638