Myelodysplastic syndromes

Myelodysplastic syndromes are a type of blood cell and bone marrow cancer.
See section Leukaemia, bone marrow and blood cells.

MDS are a group of bone marrow diseases. They are a type of cancer of the blood and bone marrow cells.

The bone marrow cells become diseased and do not function properly. The most common situation is reduced production of red blood cells, meaning that the patient develops anaemia and, consequently, tiredness. Sometimes this is accompanied by reduced platelet production, with the possibility of bleeding, and/or reduced production of defence cells — neutrophil leukocytes — with an increased risk of infections.

It is a relatively uncommon disease, more common in older people and slightly more frequent in men than in women. In Spain, around 1,500 new cases of MDS are diagnosed each year. Its frequency increases with age. The average age at diagnosis is over 65 years.

In MDS, in addition to a reduced number of some blood cells, these cells appear abnormal or “dysplastic” under the microscope. In a patient with MDS, the bone marrow stem cells — blasts and other immature cells — have difficulty becoming mature red blood cells, white blood cells or platelets, and die prematurely in the bone marrow or shortly after entering the blood. This is why a lower number of red blood cells, leukocytes or platelets is detected in blood tests.

In addition, patients with MDS have DNA alterations affecting chromosomes, genes — mutations — or methylation, meaning DNA modifications that can deactivate the function of a gene, as well as other DNA-related structures.

MDS are a heterogeneous group of diseases with very different prognoses and treatments.

The World Health Organization (WHO) classifies MDS according to the percentage of immature bone marrow cells with dysplasia, the percentage of blasts in the bone marrow or blood, and the chromosomal alterations or mutations these cells contain.

Some chromosomal alterations, such as chromosome 5, or mutations, such as SF3B1, mean that these patients respond better to certain treatments — chromosome 5 deletion = lenalidomide, SF3B1 = luspatercept — or respond very poorly to all treatments, as in TP53 mutation. This is why MDS with these alterations are considered entities in their own right. In the absence of these alterations, patients are classified according to the percentage of blasts — immature leukocytes — in the bone marrow. The overall number of cells in the bone marrow is also considered — we speak of hypoplastic MDS when there are few cells — as is the presence of fibrosis — MDS with fibrosis.

On the other hand, some cases of MDS arise years after treatment with chemotherapy and/or radiotherapy, and they tend to be more resistant to treatment and have a worse course than MDS without this previous history.

Andrew

Myelodysplastic syndrome.

“When I was 24 years old, I was diagnosed with high-risk myelodysplastic syndrome. Everything stopped. I had to leave my life and take another path. The path of fatigue, nausea, treatments, the hospital, the bone marrow transplant, … A loop that seemed impossible to get out of. But my family, my partner, my friends, and the exceptional team at the hospital were there to give me the push I needed. Little by little the days began to be less grey and that’s when I took the plunge to start a new life. Since that day of the transplant, I can’t do anything but smile and enjoy.”

It is not known why MDS develop, but in most cases, they are acquired diseases related to ageing, or are due to environmental or occupational exposure, or other exposure, to toxic substances or treatments such as radiotherapy and/or chemotherapy, among others.

MDS, like other types of cancer, are not contagious.

In the early stages of MDS, it is common for patients not to notice any discomfort. In these cases, the disease is usually discovered in a routine blood test carried out for other medical processes, showing lower-than-normal blood cell counts.

In other cases where the patient has symptoms, these will depend on the level of haematites, leukocytes and platelets in the blood. If there is anaemia due to a decrease in red blood cells, tiredness and weakness are common; when it is severe, dizziness, palpitations, sweating and other symptoms may be noticed. Symptoms resulting from a decrease in white blood cells and/or platelets are infections and/or bleeding, respectively.

A bone marrow aspirate makes it possible to observe and count immature cells — blasts and others — and to study the chromosomes and their genes. It also makes it possible to observe the presence of ring sideroblasts — immature haematites with poorly distributed iron inside them — a feature associated with the presence of the SF3B1 mutation.

A bone marrow biopsy is only performed if insufficient material is obtained for analysis from the bone marrow aspirate, which usually occurs in hypoplastic MDS or MDS with fibrosis.

To establish the risk level of each case of MDS, different disease parameters are assessed using the IPSS-M index, which together defines the risk of dying from MDS and the risk of transformation into leukaemia. In this way, we speak of a more aggressive disease — high-risk MDS — or not — low-risk MDS.

The parameters considered by the IPSS-M are:

• Percentage of blasts in the bone marrow
• Absolute count of red blood cells, platelets and neutrophil leukocytes
• Chromosomal alterations — for example, deletion of chromosome 11 is considered a good-prognosis alteration, whereas the absence of chromosome 7 is considered a poor-prognosis alteration
• Mutations — for example, the SF3B1 mutation is considered a good-prognosis alteration, while TP53 is considered a poor-prognosis mutation

Based on these parameters, the patient is classified into six risk groups — very low, low, moderately low, moderately high, high and very high — with different outcomes in terms of survival and transformation into leukaemia. However, for treatment purposes, the first three are grouped as low risk and the last three as high risk.

There are several types of MDS, with very different characteristics and treatments. Few effective treatments are available and there is no defined treatment schedule. In low-risk patients, we try to improve symptoms, while in high-risk patients we try to prevent progression to leukaemia.

If the decrease in blood cell levels is mild and the type of MDS is low risk, the most reasonable approach is not to administer any treatment and to carry out periodic follow-up checks. If anaemia is significant, an attempt can be made to improve it with a drug that stimulates red blood cell production, such as erythropoietin, and/or to administer red blood cell transfusions. Luspatercept is a medicine that inhibits the TGF-beta pathway and can improve anaemia in some patients, especially those with ring sideroblasts or an SF3B1 mutation.

Patients with MDS often need a large number of blood transfusions on a chronic basis. These improve tiredness but are not risk-free: transfusion reactions, infections, development of antibodies against red blood cells or platelets, and iron overload in different organs of the body. For iron overload, an oral chelation treatment — deferasirox — can be administered.

There is no established treatment to improve platelet or neutrophil counts. Corticosteroids can be used for thrombocytopenia and, if there are infections resulting from a shortage of neutrophils, a white blood cell stimulant — G-CSF — can be used. 

The only curative option for MDS is allogeneic bone marrow transplantation — from a donor — but, because of its risks, it is usually reserved for young patients with high-risk MDS.

However, in high-risk patients in whom transplantation cannot be performed because of age or other accompanying diseases — a very common situation — a drug that reduces DNA methylation, such as azacitidine, can be administered subcutaneously.

Azacitidine is the first treatment shown to delay progression to leukaemia and prolong the life of patients with high-risk MDS, as well as improving their quality of life.

Lenalidomide — Revlimid® — belongs to a class of medicines called immunomodulatory agents and is used orally in low-risk patients with an alteration in chromosome 5 — 5q- — substantially improving anaemia in most patients.

Several medicines are under investigation, either in combination with available treatments or not, to improve the symptoms and prognosis of MDS.

Juan

Myelodysplastic syndrome.

“In 2019, when I was only 29 years old, I was diagnosed with high-risk myelodysplastic syndrome after an analysis that I requested because I felt very tired, with headaches, dizziness, … The truth is that it was a shock. I always have been a healthy person without bad habits. My life changed in a second. I underwent several sessions of chemotherapy and a bone marrow transplant from an anonymous donor located by the Josep Carreras Foundation. These moments are very hard, but I always try to be with a smile and be grateful for every day of life.”

• Acute lymphoblastic leukaemia in adults. American Cancer Society.
• Adult Acute Lymphoblastic Leukemia Treatment. National Cancer Institute
• Acute Lymphoblastic Leukemia. Leukemia & Lymphoma Society
• Acute lymphoblastic leukaemia. Bloodwise UK

TESTIMONIAL MATERIALS

• Ebook “Here and now: Álvaro’s story”.
• Ebook “Here and now: Clàudia’s story”

You can order the booklets in paper format for free delivery in Spain by e-mail: imparables@fcarreras.es

BONE MARROW TRANSPLANT

• Bone Marrow Transplant Guide. Josep Carreras Foundation (content in Spanish)
• What is HLA and how does it work? Josep Carreras Foundation (content in Spanish)
• Graft-versus-Host Disease. Josep Carreras Foundation (content in Spanish)
• History of Bone Marrow Transplantation. Josep Carreras Foundation (content in Spanish)
• How is the search for an anonymous donor conducted? Josep Carreras Foundation (content in Spanish)

FOOD

• How to maintain a healthy diet during treatment? Josep Carreras Foundation (content in Spanish)
• Nutrition guide. Leukemia & Lymphoma Society

OTHER

• Ideas on what to take with me to the isolation chamber. Josep Carreras Leukaemia Foundation (content in Spanish)
• Travel tips for people with cancer. Josep Carreras Leukaemia Foundation (content in Spanish)
• Physiotherapy manual for haematological and transplant patients. Josep Carreras Leukaemia Foundation (content in Spanish)
• Prevention and treatment of oral mucositis. Josep Carreras Leukaemia Foundation (content in Spanish)
• Oral hygiene in oncohaematological patients. Josep Carreras Leukaemia Foundation (content in Spanish)
• Fertility manual: Suffering from blood cancer and becoming a parent. Josep Carreras Leukaemia Foundation (content in Spanish)
• Skin care in the oncohaematological patient. Josep Carreras Leukaemia Foundation (content in Spanish)
• Aesthetic Oncology Manual. Josep Carreras Leukaemia Foundation (content in Spanish)
• Leukaemia and sexuality. Josep Carreras Leukaemia Foundation (content in Spanish)
• 7 ways to wear a scarf. Josep Carreras Leukaemia Foundation (content in Spanish)

In Spain there is a large network of associations for haematological cancer patients that, in many cases, can inform you, advise you and even carry out certain procedures. These are the contacts of some of them by Autonomous Communities:

All these organisations are external to the Josep Carreras Foundation.

STATE

• CEMMP (Comunidad Española de Pacientes de Mieloma Múltiple)
• AEAL (ASOCIACIÓN ESPAÑOLA DE AFECTADOS POR LINFOMA, MIELOMA y LEUCEMIA)
• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact with the nearest branch or call 900 100 036 (24h).
• AELCLES (Agrupación Española contra la Leucemia y Enfermedades de la Sangre)
• Josep Carreras Leukaemia Foundation
• FUNDACIÓN SANDRA IBARRA
• GEPAC (GRUPO ESPAÑOL DE PACIENTES CON CÁNCER)
• MPN España (Asociación de Afectados Por Neoplasias Mieloproliferativas Crónicas)

ANDALUCÍA

• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
• ALUSVI (ASOCIACIÓN LUCHA Y SONRÍE POR LA VIDA). Sevilla
• APOLEU (ASOCIACIÓN DE APOYO A PACIENTES Y FAMILIARES DE LEUCEMIA). Cádiz

ARAGÓN

• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
• ASPHER (ASOCIACIÓN DE PACIENTES DE ENFERMEDADES HEMATOLÓGICAS RARAS DE ARAGÓN)
• DONA MÉDULA ARAGÓN

ASTURIAS

• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
• ASTHEHA (ASOCIACIÓN DE TRASPLANTADOS HEMATOPOYÉTICOS Y ENFERMOS HEMATOLÓGICOS DE ASTURIAS)

CANTABRIA

• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.

CASTILLA LA MANCHA

• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.

CASTILLA LEÓN

• ABACES (ASOCIACIÓN BERCIANA DE AYUDA CONTRA LAS ENFERMEDADES DE LA SANGRE)
• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
• ALCLES (ASOCIACIÓN LEONESA CON LAS ENFERMEDADES DE LA SANGRE). León.
• ASCOL (ASOCIACIÓN CONTRA LA LEUCEMIA Y ENFERMEDADES DE LA SANGRE). Salamanca.

CATALUÑA

• ASSOCIACIÓ FÈNIX. Solsona
• FECEC (FEDERACIÓ CATALANA D’ENTITATS CONTRA EL CÁNCER
• FUNDACIÓ KÁLIDA. Barcelona
• FUNDACIÓ ROSES CONTRA EL CÀNCER. Roses
• LLIGA CONTRA EL CÀNCER COMARQUES DE TARRAGONA I TERRES DE L’EBRE. Tarragona
• MielomaCAT 
• ONCOLLIGA BARCELONA. Barcelona
• ONCOLLIGA GIRONA. Girona
• ONCOLLIGA COMARQUES DE LLEIDA. Lleida
• ONCOVALLÈS. Vallès Oriental
• OSONA CONTRA EL CÀNCER. Osona
• SUPORT I COMPANYIA. Barcelona
• VILASSAR DE DALT CONTRA EL CÀNCER. Vilassar de Dalt

VALENCIAN COMMUNITY

• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
• ASLEUVAL (ASOCIACIÓN DE PACIENTES DE LEUCEMIA, LINFOMA, MIELOMA Y OTRAS ENFERMEDADES DE LA SANGRE DE VALENCIA)

EXTREMADURA

• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
• AFAL (AYUDA A FAMILIAS AFECTADAS DE LEUCEMIAS, LINFOMAS; MIELOMAS Y APLASIAS)
• AOEX (ASOCIACIÓN ONCOLÓGICA EXTREMEÑA)

GALICIA

• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
• ASOTRAME (ASOCIACIÓN GALLEGA DE AFECTADOS POR TRASPLANTES MEDULARES)

BALEARIC ISLANDS

• ADAA (ASSOCIACIÓ D’AJUDA A L’ACOMPANYAMENT DEL MALALT DE LES ILLES BALEARS)
• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.

CANARY ISLANDS

• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
• AFOL (ASOCIACIÓN DE FAMILIAS ONCOHEMATOLÓGICAS DE LANZAROTE)
• FUNDACIÓN ALEJANDRO DA SILVA

LA RIOJA

• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.

MADRID

• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
• AEAL (ASOCIACIÓN ESPAÑOLA DE LEUCEMIA Y LINFOMA)
• CRIS CONTRA EL CÁNCER
• FUNDACIÓN LEUCEMIA Y LINFOMA

MURCIA

• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.

NAVARRA

• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.

BASQUE COUNTRY

• AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
• PAUSOZ-PAUSO. Bilbao

AUTONOMOUS CITIES OF CEUTA AND MELILLA

• AECC CEUTA (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER)
• AECC MELILLA (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER)

We also invite you to follow us through our main social media (Facebook, Twitter and Instagram) where we often share testimonies of overcoming this disease.

If you live in Spain, you can also contact us by sending an e-mail to imparables@fcarreras.es so that we can help you get in touch with other people who have overcome this disease.