MPN 101 – Knowledge is Power

The Basics:  Education & Research

Learn as much as you can about your diagnosis. Our understanding of these diseases has expanded significantly over the last ten years. While there are still more questions than answers, many talented people are working on our behalf.

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The figure describes a working model of genetic events and other mechanisms possibly involved in the pathophysiology of myeloproliferative disorders. A hematopoietic pluripotent stem cell (HSC) is the target of JAK2V617F mutation (other abnormalities in JAK2 exon 12 or MPL may have similar effects; for clarity, the JAK2V617F mutation only is presented as a model, and the mutated allele is indicated by a red dot). However, a pre-JAK2 mutated HSC cell (green) might also exist as the result of a still unknown molecular lesion, indicated by a single blue dot; this cell might subsequently acquire the JAK2V617F mutation, although also the inverse process could happen (dashed arrow). A JAK2V617F heterozygous cell may then undergo a mitotic recombination process at 9p leading to JAK2V617F homozygosity, which is likely associated with growth advantage. As a consequence, the clonal population at the basis of a myeloproliferative disorder may be comprised of a variable proportion of cells harboring isolated or multiple molecular defects (please note that the existence of some of the cells depicted has not been formally proven). JAK2V617F mutation is probably necessary for PV to occur, while other still undiscovered genetic abnormalities may be at the basis of JAK2 un-mutated ET or PMF. Finally, normal HSC persist in many patients for length of time and in variable amount. All these cell-heritable and irreversible genetic events may be complemented by the effects of post-genetic regulatory mechanisms, including miRNAs or epigenetic modifications, and/or of host genetic modifiers, such as gender, SNPs and possibly others, including also non-genetic modifiers (ie, ferritin iron availability). The phenotypic pleiotropy of a myeloproliferative disorder would then be the result of a combination of somatic mutation(s), inherited genetic variability, post-genetic regulation and host modifiers.  
source:  http://www.haematologica.org/content/93/7/972#   Molecular Pathophysiology Of Philadelphia-Negative Myeloproliferative Disorders: Beyond JAK2 And MPL Mutations           authors: Alessandro M. Vannucchi,  Paola Guglielmelli   

Confused?  These organizations have the latest information and are dedicated to better treatments, cures, and support for people living with myeloproliferative neoplasms. Share what you learn with the important people in your life.

MPNforum Magazine         http://www.mpnforum.com

MPNforum Magazine and its companion MPN Quarterly Journal are open source publications that report the latest international MPN news, science, and opinion on pressing issues affecting MPN patients.  MPNforum is managed and staffed by patients and friends with the volunteer participation of scientists, hematologists, and healthcare providers. No subscription is required, but subscribers (no fee, just sign up with email address) get special bulletins, early notice of publication, plus the option to join the private MPNforum Facebook discussion group).

MPN Research Foundation  http://www.mpnresearchfoundation.org/

The MPN Research Foundation was founded by patients, for patients with a single goal: to stimulate original research in pursuit of new treatments — and eventually a cure — for polycythemia vera (PV), essential thrombocythemia (ET) and myelofibrosis (MF), known collectively as myeloproliferative neoplasms (MPN). It funds basic science research that holds promise for further knowledge in MPN functioning. It also has a lot of educational information for patients and their loved ones.  It recently launched a CancerConnect Community, an online community for people impacted with MPN to ask questions and share information. It is also developing a Patient Registry, myMPN, to gather critical data that will improve patient care and drive research; and connect eligible patients with trials and other need-to-know information.

MPN Education Foundation      www.mpninfo.org

The MPN Education Foundation provides information, education and support to MPN patients and fosters doctor/patient/researcher networking. It holds a bi-ennial MPN Patient Conference with Mayo Clinic Scottsdale in February.  This volunteer run organization also hosts and administers MPN-NET, a global online support and education listserv for patients, families, researchers and physicians. Go to:  http://listserv.acor.org/   subscribe (it’s free!) with email to listserv@listserv.acor.org

MPN Advocacy and Education International     www.mpnadvocacy.com

MPN Advocacy & Education International assists and informs the MPN patient and family community on issues such as accessing quality care and treatments; current research; clinical trials; and psychosocial needs.  Advocacy initiatives include: Women and MPN; Vietnam Veterans and MPN; children and MPN; and tools for patient self advocacy.  Education initiatives include: Patient-centered symposia across the US and other countries; Print materials on MPN basics and newsletters; Support to community-based MPN support groups.  The website lists many resources and they post articles of interest to patients.  Videos of many of their conference presentations are also online.

MPN Voice  www.mpnvoice.org.uk

MPN Voice is a UK based web site and team that provides information and support to those diagnosed with a myeloproliferative neoplasm (MPN). MPN Voice has members across the UK and worldwide. It organises regional patient forums in the UK and co-ordinates a Peer Support programme to allow people with MPNs to contact other more experienced patients.

National Cancer Institute   Cancer.gov:  http://www.cancer.gov/types/myeloproliferative 

US National Cancer Institute provides comprehensive cancer information including the latest in research.

Patient Power     www.patientpower.info

Patient Power interviews clinicians and researchers and shares the videos on line so patients can get the latest information in the comfort of their own homes.

PV Reporter     http://www.pvreporter.com

PV Reporter provides easy access to important information on all the MPN.  Created by a PV patient, it includes a specialized MPN Search engine that indexes information from highly reputable sources.

NORD – National Organization for Rare Disorders     www.rarediseases.org

The National Organization for Rare Disorders is committed to the identification, treatment and cure of rare disorders through education, advocacy, research and patient services.

MPD-RC         
The MPD Research Consortium            www.mpd-rc.org

A National Cancer Institute supported project involving 50 International MPN Centers in the United States, Canada, Europe and Israel. It is a resource for both patients and physicians focusing on advancing the science and therapy of myeloproliferative neoplasms.

Cancer Research & Treatment Fund (CRT)     www.crt.org

CRT funds clinical research on MPN and related blood cancers, primarily through Weill Cornell Medical College. Founded by Dr. Richard T. Silver in 1948, CRT has invested more than $10 million in clinical research.

Leukemia & Lymphoma Society     www.lls.org

LLS is the largest voluntary health agency dedicated to blood cancer and funds lifesaving blood cancer research around the world.  LLS funds research and provides many patient services including: a telephone helpline with clinically trained Information Specialists who help patients find resources; LLS Community (on-line support community for many blood cancers, including MPN); Financial assistance for co-pays and travel.  The First Connection program facilitates peer support by matching patients with cancer survivors trained in peer support.

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