Tag Archives: young adult mpn

Clinical Characteristics Defined in Adolescents and Young Adults With MPNs in Japan

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Vicki Moore, PhD

An analysis based in Japan identified differences in clinical characteristics between adolescents and young adults (AYA) and the non-AYA population among those with polycythemia vera (PV) or essential thrombocytopenia (ET). Findings were reported in the International Journal of Hematology.

The study was a large-scale retrospective analysis of AYA patients (aged 20 to 39 years) in the Japanese JSH-MPN-R18 registry who had been seen for an initial visit for PV or ET between April 2005 and March 2018. The study investigators evaluated clinical characteristics associated with PV or ET in this AYA cohort to increase understanding of myeloproliferative neoplasms (MPNS) in this population, in comparison with non-AYA patients from the registry.

In the registry, a total of 596 patients with PV and 1152 patients with ET were identified. There were 31 AYA patients among those with PV and 141 AYA patients among those with ET, corresponding to 5.2% of the total patients with PV and 12.2% of those with ET. In the AYA cohort, the median age at diagnosis was 33 years with PV and 32 years with ET.

AYA patients with PV had a lower median neutrophil ratio (71%) than non-AYA patients with PV did (78%; P <.01). Their median neutrophil count (6.5 x 109/L) was also lower than in the non-AYA population with PV (9.238 x 109/L; P =.03).

Among patients with ET, the AYA cohort showed lower values than non-AYA patients did for numerous parameters, such as median leukocyte count, neutrophil ratio, neutrophil count, lactate dehydrogenase level, and D-dimer level (P <.01 each). Palpable splenomegaly was also more common among AYA than non-AYA patients in the ET group (6.3% vs 2.3%, respectively; P =.02).

In patients with ET, the 5-year rate of hemorrhage-free survival (HFS) was higher for AYA patients (100%) than for non-AYA patients (93.9%; P <.01). For patients with PV, HFS did not significantly differ between AYA and non-AYA patients.

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Treatment Differences for Younger vs Older Patients With MPNs

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October 30, 2024

Author(s): Laura Joszt, MA, Mary Caffrey

The age distribution of people affected by myeloproliferative neoplasms (MPNs) is broad, explained Ruben Mesa, MD, FACP, executive director of Atrium Health Wake Forest Baptist Comprehensive Cancer Center, president of Atrium Health Levine Cancer.

With younger patients, it’s important to understand the increased risk of their disease progressing given how long they’ll live with their illness, and the impact therapies may have on fertility.

This transcript was lightly edited for clarity.

Transcript

About 20% of patients with myeloproliferative neoplasms are in the adolescent to young adult population. Are there characteristics that differentiate this younger population from older ones or treatment considerations that differ among the age groups?

I would say that the median age is in the 60s. However, I would say that the distribution is broad. As opposed to it being a median in the 60s and there being a high concentration only in individuals that are older, it is a broader distribution. In particular the earlier phases of MPN, ET [essential thrombocythemia], and PV [polycythemia vera}, are not uncommon in those that are 30s, 40s and 50s years old. Teenagers and those in their 20s—that AYA [adolescent and young adult] population—certainly is less common, but it is more common than, I think, had been appreciated, that there’s a broader distribution affecting these individuals.

Clearly, with younger individuals, we’re mindful of several things. One, the length of time that they have the illness does increase our concern that they have a higher risk of the disease progressing to a more advanced myeloid neoplasm the longer they have the disease. Particularly individuals with 10 years or more of the disease have increasing risk from ET and PV progressing to myelofibrosis. Overall, we think myelofibrosis can be a life-threatening disease, where ET and PV usually can be managed without a decrease in survival. So, that progression is really a negative, and the younger you are, the more exposure you really have to that. Additionally, they have a higher risk of progressing to acute leukemia because of this increased length of time.

Additionally, there are issues as it relates to both the preservation of fertility and the selection of medical therapy. Historically, in ET and PV, there had been a lot of use of the medication hydroxyurea, that is counter indicated in pregnancy, and that has implications in terms of therapy selected, so that medications like interferons or long-acting interferons tend to be preferred in this group of patients, both for that reason, as well as there is the data suggesting that interferons may help to slow the progression of the disease. And again, in younger individuals, that makes it a more relevant therapy for these individuals.

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Myeloproliferative neoplasms: young patients, current data and future considerations

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August 7, 2024

Marta Sobas, Jean-Christophe Ianotto, Jean-Jacques Kiladjian & Claire Harrison

Abstract

The Philadelphia-negative chronic myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders predominantly occurring in elderly, whereas in children and young adults are quite infrequent. Therefore, less is known about clinical presentation, genetic abnormalities, prognosis and best management strategies for this groups of patients. Currently, more cases of younger MPN patients are diagnosed. Nevertheless, diagnosis of MPNs, especially in childhood, may be difficult due to lower incidence of JAK2V617F and CALR mutations and differences in peripheral blood counts between adults and children. Challenges for younger MPN patients are longer life expectances, specific psychosocial need, fertility and pregnancy need and a long term therapy side effect (including second cancers). The most severe MPNs complication is transformation to secondary myelofibrosis (MF) or acute myeloid leukemia (AML). Optimal management of young MPNs remains a challenge as the classical risk scores fail in young MPNs. Moreover, the main objective of young MPNs therapy should be the disease outcome modification. Therefore, international collaborative work between pediatricians and “adult hematologists” is required to measure outcomes and generate protocol of management of young MPNs.

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Ph- MPN in Adolescent and Young Adult Patients

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June 26, 2024

Elizabeth L. Courville, MD

England JT, Szuber N, Sirhan S, et al. Clinical features and long-term outcomes of a pan-Canadian cohort of adolescents and young adults with myeloproliferative neoplasms: a Canadian MPN group study. Leukemia. 2024;38(3):570-578.

The classical BCR:: ABL1-negative myeloproliferative neoplasms (Ph- MPNs) polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are typically diseases of older adults, with a median age at diagnosis within the sixth decade of life. In two large case series from cancer centers in the United States, adolescent and young adult (AYA) patients were reported to account for 11 to 12% of the Ph- MPNs evaluated.1,2  The data on AYA patients with Ph- MPNs is less robust than that available for their older counterparts, and this patient population may not be represented in cohorts used to develop prognostic scoring systems.

Recently, James T. England, MD, MSc, and colleagues investigated the clinical features and long-term outcomes of a cohort of 609 patients (17 pediatric patients aged <18 years and 592 patients aged 18-45 years) with Ph- MPNs from across eight participating centers in Canada. Initial diagnoses are shown in Figure 1. Clinical features from the current study cohort are compared with those of a 2018 Mayo Clinic AYA cohort1  (Table). The patients were diagnosed between 2000 and 2022, with MPN driver mutation analysis performed in 89% and next-generation sequencing (NGS) of clinically relevant myeloid genes performed in 48%. More than one-third of patients (211) had NGS testing first performed during initial disease phase, with a median time from diagnosis of 3.9 years (range, 0-29 years). Sixty-four patients had NGS first performed during the post-ET/post-PV secondary myelofibrosis (SMF) phase, while 19 had NGS first performed during the accelerated phase (AP)/blast phase (BP) of disease. Non-MPN driver mutations were detected in a higher proportion of patients evaluated during disease progression (secondary myelofibrosis or elevated blasts) than during initial disease phase, including more frequent high molecular risk (HMR) mutations (Figure 2). Mutations defined as HMR included pathogenic and likely pathogenic variants in ASXL1, EZH2, IDH1/2, SRSF2, TP53, and U2AF1Q157. Among those patients with NGS testing performed during the initial disease phase, additional mutations were most frequently detected in those with overt PMF (26%).

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Understanding Philadelphia Chromosome-Negative Myeloproliferative Neoplasms in Young Patients: A Comprehensive Study

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By Mason Walker
Published Feb 6, 2024

Insights into Philadelphia Chromosome-Negative Myeloproliferative Neoplasms in Young Patients

Myeloproliferative neoplasms (MPNs) are a group of diseases in which the bone marrow makes too many red blood cells, white blood cells, or platelets. A recent study involving 609 patients diagnosed with Philadelphia chromosome-negative MPNs at the age of 45 or younger has brought new insights into the understanding of these diseases in younger patients.

Demographics, Clinical Variables, and Management Strategies

The study reported a variety of demographic, clinical, and laboratory variables, as well as the management strategies used for these patients. The majority of patients were diagnosed with essential thrombocythemia (ET) and polycythemia vera (PV). The median follow-up for the cohort was 9.1 years, and germline testing for hereditary MPN was not available.

The Association of Driver Mutation Variant Allele Frequency and Next-Generation Sequencing

The study also investigated the association of driver mutation variant allele frequency (VAF) and next-generation sequencing (NGS) with disease outcomes. This is important as these factors can play a significant role in the progression and management of MPNs.

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Special Interview: Living with an MPN in Childhood

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Diagnosed at age seven with Essential Thrombocythemia, Portia shared her story at the 2nd Annual Pediatric & Young Adult MPN Patient Program.

Portia, a young adult MPN patient, shared her story at the 2nd annual Pediatric & Young Adult Program

Do you remember experiencing any symptoms?

I had occasional nosebleeds that would last about twenty minutes or so. But over time, the time decreased to about ten minutes. I also experience fatigue, especially when I’m sick, all I do is sleep to try and regain any energy. Also, I’m very active and I play competitive squash, so I do experience fatigue more than an average person.

How do you cope with essential thrombocythemia (ET) symptoms and/or side effects from Hydroxyurea?

I’m very lucky that I don’t really experience too many symptoms, but I usually push through any pain that I have since I’m such a wimp about medication. I have not had any side effects from Hydroxyurea. For fatigue, I don’t take any other medication, I pretty much just work hard and try to be smart about how I utilize my energy. When playing squash, I work extra hard to make up for my fatigue, but if I really can’t breathe due to lack of oxygen, I will talk to my coach and ask for a small break to recuperate. Most coaches are very reasonable and will allow a break.

Has ET curtailed your involvement in school activities?  Sports?

When I was younger, elementary and middle school age, I would occasionally have to miss school for lab appointments, so I would have to make up work. One symptom of ET is fatigue, so I do have to deal with that in sports. But I also have Hemoglobin H, which I believe has a bigger impact on my fatigue in sports than ET. But overall, I still go about my life and continue to do the things I love.

How do you explain what you have to your friends?

As I’ve gotten older, I’ve done a lot more of my own research to further understand my condition, but to my friends, I explain that I have way too many platelets, which help clot your blood when you get a cut, and because of that, I bleed for longer.

What advice would you give other younger individuals with an MPN when peers say they don’t look sick or they’re faking?

I would tell them to do their best to ignore their hateful comments and try to explain their condition by telling them it’s something internal rather than external, that’s why they don’t appear sick. And most important, find friends who won’t judge you, and people who do, clearly aren’t your real friends, for real friends should accept you no matter what.

You are very energetic and positive, when you reach out to others your age who aren’t feeling well, what do you say to encourage them?

First, I would listen to their concerns and possible issues, and then I would tell them to keep their head held high and know that it does get better. This is just a phase and eventually, the negative parts will fade away. Also, it’s very important to know who your close friends are and be able to talk to them since many kids would rather talk to their friends rather than a parent or even a doctor since it can be intimidating. I would also say, take one day at a time and find joy in the little things, whether it’s going for ice cream or just taking a nice walk.

If you could wave a wand and change one thing in the world of MPNs, what would you change?

Personally, I would change the medicine. I really hate swallowing pills, so I would much prefer something fun to eat or drink as my medicine. I’m also very strange and would much rather have the medicine get injected into me, which I know is an option, but the majority of people aren’t a big fan of needles.