tbuckley/cabot-search huggingface dataset:
Rexinoid-Triggered Differentiation and Tumor-Selective Apoptosis of AML by Protein Kinase A-Mediated De-Subordination.
Authors: Ettore Mariano Schiavone, Lucia Altucci, Mariacarla De Simone, Felicetto Ferrara, Aurélie Rossin, Oliver Hirsch, Angela Nebbioso, Dominique Vitoux, Emmanuelle Wilhelm, Fabien Guidez, Arthur Zelent, David Grimwade, Hugues de Thé, Hinrich Gronemeyer
Journal: Blood (2006)
High Resolution Melting Analysis for Rapid JAK2 Exon 14 and Exon12 Mutation Detection In Formalin Fixed Paraffin-Embeded Trephine Bone Marrow Biopsies of Patients with Polycythemia Vera. Detection of Novel JAK2 mutations
Authors: Tatiana Burjanivova, Roberto H Nussenzveig, Mohamed E Salama, Naser Aboud, Juraj Marcinek, Lukas Plank, Josef T. Prchal
Journal: Blood (2010)
A Phase I Study of ENMD-2076 In Patients with Relapsed or Refractory Leukemia
Authors: Karen W.L. Yee, Hsaio-Wei Tina Chen, Joseph Brandwein, Sue Chow, Deborah Sanfelice, David Hedley, Vikas Gupta, Aaron Schimmer, Carolyn Fowler Sidor, Graham Fletcher, Jamie Arnott, Mark Bray, Mark D. Minden, Andre Schuh
Journal: Blood (2010)
The Effect of Digital Health Intervention on Reducing Cardiovascular Risk
Authors: Swathikan Chidambaram, En Lin Goh
Journal: JAMA Cardiology (2016)

To the Editor We thank Anand et al1 for their study evaluating the effect of digital health intervention (DHI) on lowering cardiovascular risk in a South Asian population. The authors reported that DHI was not effective in reducing cardiovascular risk after 12 months.
The NFκB pathway as a key mediator of the glioblastoma mesenchymal subtype in glioblastoma stem cells and human tumors.
Authors: Brian D. Vaillant, Krishna Bhat, Erik P. Sulman, Veerakumar Balasubramaniyan, Ravesanker Ezhilarasan, Kenneth D. Aldape, Howard Colman
Journal: Journal of Clinical Oncology (2012)

2002 Background: The mesenchymal (MES) subtype of glioblastoma (GBM) is associated with worse prognosis and increased treatment resistance. Several transcription factors driving the MES phenotype have been identified, including STAT3, CEBP-β, and WWTR1/TAZ. However, the key signaling pathways driving this transcriptional program remain unknown. Methods: Expression profiling analyses was performed on multiple GBM stem cell (GSC) lines derived from individual human tumors. Three large GBM tumor gene expression datasets (TCGA, Rembrandt, Erasmus) were also used in the analyses to identify pathways activated in MES tumors and GSCs. Intracranial GSC xenograft models were used for in vivo validation. Results: We found that GSCs with a MES phenotype also demonstrated upregulation of a gene cassette associated with NFκB activation. Analysis of multiple large expression data sets also demonstrated a tight correlation between the MES phenotype and NFκB activation in human tumors. To determine the effect of NFκB activation in GSCs, we stimulated NFκB by addition of the inflammatory cytokine TNFα. This was accompanied by increased expression of the MES transcription factors (STAT3, CEBP-β, TAZ), and MES markers including CD44. Conversely, blockade of NFκB signaling in GSCs by IκB-α was sufficient to prevent TNF-induced MES transition. Investigation of potential source of NFκB activation suggested a role of microglia. Indeed, addition of supernatant from activated microglia was sufficient to activate NFκB and MES transition in GSCs that could be blocked by IκB-α. To test the role of microglia and NFκB activation on treatment resistance in vivo, treatment with minocycline, an inhibitor of microglia activation, led to a reduction of tumor grade and down-regulation of MES markers in intracranial GSC xenografts. Conclusions: NFκB appears to play an important role in induction of the MES phenotype in GBM and GSCs. Furthermore, activation of microglia is a potential source of NFκB activation in these tumors. These data suggest that blockade of NFκB and/or inhibition of microglia activation may be attractive therapeutic approaches for downregulating MES transition and overcoming treatment resistance in GBM.
2008 Guidelines for the Treatment of Venous Thromboembolism in Cancer Patients: Report from the French Working Group.
Authors: Dominique Farge, Lise Bosquet, Diana Kassab Chahmi, Francis Cajfinger, Hélène Desmurs-Clavel, Eric Desruennes, Marie Cécile Douard, Antoine Elias, Ismaïl Elalamy, Claire Grange, Hamid Hocini, Irène Kriegel, Hérvé Lévesque, Isabelle Mahé, Guy Meyer, Patrick Mismetti, Michel Pavic, Isabelle Quéré, Jean Marc Renaudin, Marie Loraine Scrobohaci, Gregoire Le Gal, Philippe Debourdeau
Journal: Blood (2008)
Age-Related Transcription Levels of KU70 and BIK in CD34+ Hematopoietic Stem and Progenitor Cells.
Authors: Wolf C. Prall, Akos Czibere, Franck Grall, Luiz F. Zerbini, Markus Jaeger, Dimitrios Spentzos, Towia A. Libermann, Norbert Gattermann, Manuel Aivado, Rainer Haas
Journal: Blood (2005)
Involvement of P-TEFb/CDK9 in Cooperative Transcriptional Activation of Megakaryocytic Genes by GATA-1 and RUNX1 and in Programming of Megakaryocytic Development In Vivo.
Authors: Kamaleldin E. Elagib, Ivailo S. Mihaylov, Lorrie L. Delehanty, Grant C. Bullock, Kevin D. Ouma, Jill F. Caronia, Sara L. Gonias, Adam N. Goldfarb
Journal: Blood (2007)
Treatment of High-Risk (HR) Philadelphia Chromosome-Negative (Ph-) Adult Acute Lymphoblastic Leukemia (ALL) According to Baseline Risk Factors and Minimal Residual Disease (MRD). Results of the PETHEMA ALL-AR-03 Trial Including the Use of Propensity Score (PS) Method to Reduce Assignment Bias.
Authors: Josep-Maria Ribera, Albert Oriol, Mireia Morgades, Miguel-Angel Sanz, Pau Montesinos, Josep Sarra, Salut Brunet, Pascual Fernández-Abellan, Ramon Guardia, Jordi Esteve, Jose Gonzalez-Campos, Arancha Bermudez, Maria-Jose Moreno, Maria-Teresa Bernal, Mar Tormo, Eloy Del Potro, Antonia Cladera, Andreu Llorente, Raimundo Garcia-Boyero, Maria-Jose Rabuñal, Juan Bergua, Carlos Grande, Maria-Luz Amigo, Javier Bueno, Concepcion Bethencourt, Jesus-Maria Hernandez-Rivas, Evarist Feliu
Journal: Blood (2009)
Methylprednisolone-Treatment Induces Dephosphorylation of Syk in B-CLL Cells In Vitro.
Authors: Jerina Boelens, Sofie Lust, Mireille Van Gele, Lara Derycke, Ann Janssens, Barbara Van Hoecke, Jan Philippé, Marc Bracke, Martine Poelman, Fritz Offner
Journal: Blood (2007)
Th2 responses are primed by skin dendritic cells with distinct transcriptional profiles
Authors: Lisa M. Connor, Shiau-Choot Tang, Emmanuelle Cognard, Sotaro Ochiai, Kerry L. Hilligan, Samuel I. Old, Christophe Pellefigues, Ruby F. White, Deepa Patel, Adam Alexander T. Smith, David A. Eccles, Olivier Lamiable, Melanie J. McConnell, Franca Ronchese
Journal: The Journal of Experimental Medicine (2016)

The dendritic cell signals required for the in vivo priming of IL-4–producing T cells are unknown. We used RNA sequencing to characterize DCs from skin LN of mice exposed to two different Th2 stimuli: the helminth parasite Nippostrongylus brasiliensis (Nb) and the contact sensitizer dibutyl phthalate (DBP)-FITC. Both Nb and DBP-FITC induced extensive transcriptional changes that involved multiple DC subsets. Surprisingly, these transcriptional changes were highly distinct in the two models, with only a small number of genes being similarly regulated in both conditions. Pathway analysis of expressed genes identified no shared pathways between Nb and DBP-FITC, but revealed a type-I IFN (IFN-I) signature unique to DCs from Nb-primed mice. Blocking the IFN-I receptor at the time of Nb treatment had little effect on DC migration and antigen transport to the LN, but inhibited the up-regulation of IFN-I–induced markers on DCs and effectively blunted Th2 development. In contrast, the response to DBP-FITC was not affected by IFN-I receptor blockade, a finding consistent with the known dependence of this response on the innate cytokine TSLP. Thus, the priming of Th2 responses is associated with distinct transcriptional signatures in DCs in vivo, reflecting the diverse environments in which Th2 immune responses are initiated.
Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel
Authors: Hartmut Döhner, Elihu Estey, David Grimwade, Sergio Amadori, Frederick R. Appelbaum, Thomas Büchner, Hervé Dombret, Benjamin L. Ebert, Pierre Fenaux, Richard A. Larson, Ross L. Levine, Francesco Lo-Coco, Tomoki Naoe, Dietger Niederwieser, Gert J. Ossenkoppele, Miguel Sanz, Jorge Sierra, Martin S. Tallman, Hwei-Fang Tien, Andrew H. Wei, Bob Löwenberg, Clara D. Bloomfield
Journal: Blood (2016)
Pro-Apoptotic Effect of Lenalidomide (L) in Patients with Chronic Lymphocytic Leukemia (CLL) Is Possibly Mediated through Interruption of the Phosphatidylinositol Pathway.
Authors: Asher Alban Chanan-Khan, Noreen Ersing, Deborah Krammer, Ralph Bernacki, Lionel Coignet, David Goodrich, Naveen Bangia, Swami Padmanabhan, Carl W. Porter
Journal: Blood (2006)
An evaluation of high-stage cutaneous squamous cell carcinoma outcomes by sex
Authors: J. Duran, F.C. Morgan, P.S. Karia, C.D. Schmults
Journal: British Journal of Dermatology (2016)

Data from the World Health Organization indicate that global overall age-adjusted cancer incidence and mortality rates are 1.2- and 1.5-fold higher in men as compared to women, respectively.1 Non-melanoma skin cancer (NMSC) is the most common cancer among white populations, yet the prognostic significance of gender remains unclear.2 A possible relationship may exist given that in melanoma, women have a lower mortality risk as compared to men.3,4

This article is protected by copyright. All rights reserved.
Association between the Polycomb Group (PcG) BMI-1 Gene Expression and Outcome in Chronic Myeloid Leukemia (CML) Patients Receiving Allogeneic Stem Cell Transplantation (allo-SCT).
Authors: Mohamad Mohty, Agnes S.M. Yong, Richard M. Szydlo, Jane F. Apperley, John M. Goldman, Junia V. Melo
Journal: Blood (2007)
Ablation of Autophagy-Related E1 Ligase Atg7 Primes Acute Myelogenous Leukemia Cells to Apoptosis, Sensitizes to Chemotherapy and Overcomes Stroma Mediated Protection
Authors: Sujan Piya, Vivian R Ruvolo, Peter P. Ruvolo, Richard E. Davis, Zhiqiang Wang, Teresa McQueen, Wendy D Schober, Michael Andreeff, Gautam Borthakur
Journal: Blood (2014)
Detection of the mRNA Transcription Level of Several Genes of the HIF and NO Metabolic Pathways in PBMCs of Sickle Cell Disease Patients Using Quantitative RT-PCR Assay.
Authors: Tatyana Ammosova, Min Xu, Sergei Nekhai, Gregory J. Kato, Mark T. Gladwin, Oswaldo L. Castro, Victor R. Gordeuk
Journal: Blood (2007)
Expression Profiling Identifies Novel Genetic Subgroups with Distinct Clinical Features and Outcome in High-Risk Pediatric Precursor B Acute Lymphoblastic Leukemia (B-ALL). A Children’s Oncology Group Study.
Authors: Richard C. Harvey, George S. Davidson, Xuefei Wang, Kevin K. Dobbin, Edward J. Bedrick, Carla S. Wilson, Susan R. Atlas, Huining Kang, I-Ming Chen, Stephen P. Hunger, Meenakshi Devidas, William L. Carroll, Paul Bowman, Bruce Camitta, Gregory Reaman, Cheryl L. Willman
Journal: Blood (2007)
Genetic Abnormalities Involved in the Development and Progression of Follicular Lymphoma.
Authors: Karen E Deffenbacher, George Wright, Javeed Iqbal, Huimin Geng, Derville O’Shea, T. Andrew Lister, Jude Fitzgibbon, Kai Fu, Zhongfeng Liu, Dennis Weisenburger, Timothy C. Greiner, Randy D. Gascoyne, Andreas Rosenwald, Elias Campo, Lisa M. Rimsza, Jan Delabie, Elaine S Jaffe, Louis M. Staudt, Wing C. Chan
Journal: Blood (2008)
Influence of CD34+ and CD3+ Graft Content on Gvhd Development after Haploidentical Allogeneic Transplantation with Post-Transplant Cyclophosphamide
Authors: Mariana Bastos-Oreiro, Pascual Balsalobre, Diana Champ, Juan Churruca, Maria Jesus Pascual, Pilar Herrera, Leyre Bento, Jose Luis Piñana, Santiago Jimenez, Karem Humala, Pau Montesinos, Inmaculada Heras, Almudena Iglesias, Ana Perez-Corral, Cristina Pascual, Carolina Martinez-Laperche, Mi Kwon, Jorge Gayoso, Jose L. Diez-Martin
Journal: Blood (2015)
Cardamonin, a Novel Blocker of STAT3 and Nuclear Factor-κB Activation, Suppresses Proliferation, Arrests Cell Cycle, and Potentiates Apoptosis In Human Multiple Myeloma Cells
Authors: You Qin, Chunyan Sun, Tao Guo, Yadan Wang, Lu Zhang, Lei Chen, Xiaomei She, Lisha Ai, Han Yan, Nicholas Miller Gregg, Jun Fang, Yu Hu
Journal: Blood (2010)
Ad-ISF35-Transduced Autologous Cells In Combination with Fludarabine, Cyclophosphamide, Rituximab (FCR) Induces Complete and Partial Responses In a Phase 1b Study for Patients with Fludarabine-Refractory and/or Del(17p)/p53-Defective Chronic Lymphocytic Leukemia (CLL)
Authors: Januario E. Castro, Lee Schwartzberg, Javier Pinilla-Ibarz, Johanna Melo-Cardenas, Juan S. Barajas-Gamboa, Mark J. Cantwell, Thomas J. Kipps
Journal: Blood (2011)
Identification of Homozygous JAK2V617F Mutation in Unfractioned Blood Samples in a Substantial Proportion of Myeloproliferative Disorders: Long Term Follow-Up Study.
Authors: Irina Panovska, Nadica Matevska, Martin Ivanovski, Sanja Trajkova, Aleksandar Stojanovik, Aleksandar Dimovski, Lidija Cevreska
Journal: Blood (2007)
Early Allogenic Transplantation Improves Overall Survival (OS) and Event Free Survival (EFS) Independently of the Applied Chemotherapy in AML Patients with Unfavourable Cytogenetic Karyotype.
Authors: Cornelia Becker, Rainer Krahl, Haifa Al Ali, Simone Heyn, Wolfram Poenisch, Michael Cross, Thoralf Lange, Anke Gerhardt, Antje Schulze, Detlev Haehling, Manfred Schulze, Mathias Freund, Erika Kettner, Gottfried Doelken, Michael Assmann, Hans-Heinrich Wolf, Ernst Zschuppe, Norma Peter, Astrid Franke, Ullrich Wedding, Lutz Uharek, Ute Kreibich, Norbert Grobe, Thomas Ittel, Axel Florschuetz, Bernhard Opitz, Kristiane Senftleben, Veronika Schirmer, Klaus Fenchel, Friedrich Fiedler, Renate Huhn, Niklas Zojer, Werner Helbig, Dietger Niederwieser
Journal: Blood (2006)
The FLT3 Inhibitor PKC412 Interacts Synergistically with Both Daunorubicin and Cytarabine in Acute Myeloid Leukemia (AML) Cells by Heterogeneous Mechanisms.
Authors: Maria R. Baer, Kareemah L. Sabur, Kieran L. O’Loughlin, Petr Starostik, Hans Minderman
Journal: Blood (2006)
Clonal Evidence of Human Hematopoietic Stem Cell Hierarchy: Distinct SCID-Repopulating Cell Subsets Contribute to Various Phases of Hematopoiesis.
Authors: Takashi Yahata, Shizu Yumino, Yin Sheng, Tomoko Uno, Hideyuki Matsuzawa, Yukari Muguruma, Shunichi Kato, Tomomitsu Hotta, Kiyoshi Ando
Journal: Blood (2006)
Variant Philadelphia Translocation with BCR/ABL Fusion Gene Site In 10q24 In a Case of Chronic Myeloid Leukemia
Authors: Rossana Bonomi, Pablo Lopez, Daniela Infante, Isabel Moro, Victoria Elizondo, Ines Prosper, Solange Simonet, Gerardo Romanelli, M. Rosario Uriarte Escuder, Lem Martinez
Journal: Blood (2010)
Genome-Wide DNA Methylation Analysis Shows Enrichment of Differential Methylation in “Open Seas” and Enhancers and Reveals Hypomethylation in DNMT3A Mutated Cytogenetically Normal AML (CN-AML)
Authors: Ying Qu, Andreas Lennartsson, Verena I. Gaidzik, Stefan Deneberg, Sofia Bengtzén, Mohsen Karimi Arzenani, Lars Bullinger, Konstanze Döhner, Sören Lehmann
Journal: Blood (2012)
High Early Death Rate with Excellent Survival Beyond Day 30 in Acute Promyelocytic Leukemia Confirmed in Unselected Patients: Results of a Population-Based Registry Study
Authors: Jan M. Norgaard, Lene Sofie Granfeldt Ostgard, Eigil Kjeldsen, Mette S. Holm, Lars Kjeldsen, Maria Kallenbach, Marianne T. Severinsen, Preben Johansen, Lone S. Friis, Duruta Weber, Gitte Kerndrup, Birgitte Preiss, Morten K. Jensen, Inge H. Dufva, Susanne Timshel, Mette K. Andersen, Ove J. Nielsen
Journal: Blood (2012)
Potent Transient Inhibition of BCR-ABL by Dasatinib Leads to Complete Cytogenetic Remissions in Patients with Chronic Myeloid Leukemia: Implications for Patient Management and Drug Development.
Authors: Neil P. Shah, John M. Nicoll, Eric Bleickardt, Claude Nicaise, Ronald L. Paquette, Charles L. Sawyers
Journal: Blood (2006)
VEGF regulates local inhibitory complement proteins in the eye and kidney
Authors: Lindsay S. Keir, Rachel Firth, Lyndsey Aponik, Daniel Feitelberg, Susumu Sakimoto, Edith Aguilar, Gavin I. Welsh, Anna Richards, Yoshihiko Usui, Simon C. Satchell, Valeryia Kuzmuk, Richard J. Coward, Jonathan Goult, Katherine R. Bull, Ruchi Sharma, Kapil Bharti, Peter D. Westenskow, Iacovos P. Michael, Moin A. Saleem, Martin Friedlander
Journal: Journal of Clinical Investigation (2016)

Outer retinal and renal glomerular functions rely on specialized vasculature maintained by VEGF that is produced by neighboring epithelial cells, the retinal pigment epithelium (RPE) and podocytes, respectively. Dysregulation of RPE- and podocyte-derived VEGF is associated with neovascularization in wet age-related macular degeneration (ARMD), choriocapillaris degeneration, and glomerular thrombotic microangiopathy (TMA). Since complement activation and genetic variants in inhibitory complement factor H (CFH) are also features of both ARMD and TMA, we hypothesized that VEGF and CFH interact. Here, we demonstrated that VEGF inhibition decreases local CFH and other complement regulators in the eye and kidney through reduced VEGFR2/PKC-α/CREB signaling. Patient podocytes and RPE cells carrying disease-associated CFH genetic variants had more alternative complement pathway deposits than controls. These deposits were increased by VEGF antagonism, a common wet ARMD treatment, suggesting that VEGF inhibition could reduce cellular complement regulatory capacity. VEGF antagonism also increased markers of endothelial cell activation, which was partially reduced by genetic complement inhibition. Together, these results suggest that VEGF protects the retinal and glomerular microvasculature, not only through VEGFR2-mediated vasculotrophism, but also through modulation of local complement proteins that could protect against complement-mediated damage. Though further study is warranted, these findings could be relevant for patients receiving VEGF antagonists.
Plerixafor Ex Vivo Mobilization of Placental Derived Haematopoietic Stem Cells
Authors: M. Mansour Ceesay, Sameer Tulpule, Sergio Querol, Linda Barber, Terie Duffy, Bronwen E. Shaw, J. Alejandro Madrigal, Ghulam J. Mufti, Antonio Pagliuca
Journal: Blood (2011)
The Early Referral for Reduced-Intensity Stem Cell Transplantation in Patients with Ph1 (+) Chronic Myelogenous Leukemia in Chronic Phase in the Imatinib Era: Results of the Latin American Cooperative Oncohematology Group (LACOHG) Prospective, Multicenter Study.
Authors: Guillermo J. Ruiz-Arguelles, David Gomez-Almaguer, Amelia Morales-Toquero, Cesar H. Gutierrez-Aguirre, Jorge Vela-Ojeda, Miriam A. Garcia-Ruiz-Esparza, Carlos Manzano, Amado Karduss, Abraham Sumoza, Carmino de-Souza, Eliana Miranda, Sergio Giralt
Journal: Blood (2005)
Tissue Factor-Dependent Cellular Responses of Factor VII/VIIa in the Absence and Presence of Factor X.
Authors: Lars C. Petersen, Tatjana Albrektsen, Gertrud M. Hjortø, Marianne Kjalke, Rasmus Rojkjaer, Søren E. Bjørn, Brit B. Sørensen
Journal: Blood (2005)
Predictive Value of Interim 18 f-FDG PET-CT Scans on Diffuse Large B-Cell Lymphoma Treated with R-CHOP: A Prospective Study
Authors: He Huang, Jiatian Lin, Chengcheng Guo, Shanshan Li, Huangming Hong, Xueying Li, Mengping Zhang, Zhongjun Xia, Tongyu Lin
Journal: Blood (2015)
Long-Term Outcome of 335 Adult Patients Receiving Different Schedules of Imatinib and Chemotherapy as Front-Line Treatment for Philadelphia-Positive Acute Lymphoblastic Leukemia (Ph+ ALL)
Authors: Heike Pfeifer, Nicola Goekbuget, Christian Völp, Andreas Hüttmann, Michael Lübbert, Reingard Stuhlmann, Julanta Dengler, Karl-Anton Kreuzer, Joachim Beck, Matthias Stelljes, Mathias Schmid, B. Wassmann, Lothar Leimer, Karsten Spiekermann, Theis H Terwey, K. Schäfer-Eckart, D. Ditz, H. Lindemann, A. Morgner, Markus Schaich, Thomas Burmeister, A. Binckebanck, Dieter Hoelzer, Oliver G. Ottmann
Journal: Blood (2010)
Accurate Detection of Residual Leukemic Stem Cells In Remission Bone Marrow Predicts Relapse In Acute Myeloid Leukemia Patients
Authors: Monique Terwijn, Arjo P Rutten, Angèle Kelder, Alexander N Snel, Willemijn J Scholten, Sonja Zweegman, Gert J Ossenkoppele, Gerrit J Schuurhuis
Journal: Blood (2010)
The Impact of Alemtuzumab as a Component of Conditioning Regimens on Transplantation Outcomes in a Setting of CMV-Seropositive Recipient and Donor.
Authors: Byung Min Ahn, Sang Kyun Sohn, Jong Kwang Kim, Yee Soo Chae, Yoon Young Cho, Joon Ho Moon, Deok Hwan Yang, Je-Jung Lee, Yeo-Kyeoung Kim, Hyeoung-Joon Kim
Journal: Blood (2006)
Dynamin 2-Dependent Endocytosis Regulates Megakaryopoiesis
Authors: Markus Bender, Silvia Giannini, Terese Jönsson, Renata Grozovsky, Hilary Christensen, Fred G Pluthero, Walter H Kahr, Karin M Hoffmeister, Hervé Falet
Journal: Blood (2014)
Hypercvad+Bortezomib Is a Well Tolerated Salvage Regimen for Relapsed/Refractory Adult Acute Lymphoblastic Leukemia
Authors: Jyotishankar Raychaudhuri, Mudhasir Ahmad, Manas Kalra, Harsh Dua, Rakesh Chopra, Sangeeta Rawat, Rashmi Thakur
Journal: Blood (2010)
Multiple endocrine neoplasia type 2B：a case report and literature review Multiple endocrine neoplasia type 2B：a case report and literature review
Authors: Jianqiang Zhao, Xiaoping Qi, Jiagen Li, Jiazheng Zhao, Zhenguang Chen, Zhong Liang, Xiuhua Yu, Li Yan, Hangyang Jin, Kejing Wang
Journal: BMJ (2015)

Objective
To explore the clinical features and genetic characteristics of the multiple endocrine neoplasia type 2B (MEN 2B).


Methods
Comprehensive medical history was obtained from one patient with MEN 2B and his other 8 family members in a 3-generation southeast Chinese family. Systematic family screening including biochemical testing, imaging examinations and germline RET proto-oncogene screening.


Results
A 34-year old male patient was first admitted to our hospital due to neck masses for two years. The patient had two palpable masses in thyroids of both sides and also had lip hypertrophy, multiple mucosal neuroma and Marfanoid body habitus. Serum calcitonin level was over 2 000 ng/L at admission. Doppler ultrasound scanning indicated multi-centric hypoechoic nodules with calcifications in both thyroid lobes with bilateral cervical lymph nodes enlargement. The patient underwent total thyroidectomy plus lateral cervical lymph node dissection. Histopathology revealed multicentric thyroid medullary carcinoma (MTC) with lymph node metastases (T4aN1bM0, ⅣA). Five months later, the patient presented a left cervical mass and high calcitonin level (1 090 ng/L), and received second left cervical lymph node dissection. The patient had been follow-up for 17 months after initial operation, the calcitonin level was still elevated (1 541 ng/L); but the result of Doppler ultrasound scanning was normal, and there was no evidence showing pheochromocytoma, primary hypoparathyroidism or hypocalcemia. Family screening was performed, and other family members were all normal. RET screening showed heterozygous missense mutation of ATG to ACG (c.2753T>C) at codon 918 in exon 16 in the proband, but there was no corresponding mutation in other family members. Domestic literature was reviewed, the results showed that 9 of 10 reported MEN2B cases based on RET screening (including this case) had de novo p. M918T mutation or the mutation existed in a parental germ cell mosaicism, which was similar as reported in English literature that the de novo occurrence rate of MEN2B was more than 90%.


Conclusions
De novo RET proto-oncogene mutation that p. M918T, is also a common mutation of MEN2B in China. The early diagnosis and normalize surgery facilitate to improve the prognosis of this disease.


Key words: 
Multiple endocrine neoplasia type 2b; Proto-oncogenes; Review literature
Ruxolitinib for the treatment of inadequately controlled polycythaemia vera without splenomegaly (RESPONSE-2): a randomised, open-label, phase 3b study
Authors: Francesco Passamonti, Martin Griesshammer, Francesca Palandri, Miklos Egyed, Giulia Benevolo, Timothy Devos, Jeannie Callum, Alessandro M Vannucchi, Serdar Sivgin, Caroline Bensasson, Mahmudul Khan, Nadjat Mounedji, Guray Saydam
Journal: The Lancet Oncology (2016)