Myelodysplastic Syndrome; Mds

Description

Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML ). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011).

Clinical Features

Phenotypes and symptoms related to Myelodysplastic Syndrome; Mds

  • Anemia
  • Leukemia
  • Myelodysplasia
  • Myeloid leukemia
  • Acute myeloid leukemia
  • Acute monocytic leukemia
  • Refractory anemia

Incidence and onset information

— Based on the latest data available MYELODYSPLASTIC SYNDROME; MDS have a estimated incidence of 1.5 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Myelodysplastic Syndrome; Mds Is also known as myelodysplastic syndrome, susceptibility to, included.

Researches and researchers

Doctors, researchs, and experts related to Myelodysplastic Syndrome; Mds extracted from public data.

Myelodysplastic Syndrome; Mds Experts map



Current Researchs and researchers

  • DRESDEN — Dr Martin WERMKE

    Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Medizinische Klinik und Poliklinik I, Universitätsklinikum Carl Gustav Carus an der TU Dresden
    • Research area/topic::

      ALLIVE (ALLogeneic Iron inVEstigators) Observational Trial: Assessment of body, liver and labile plasma iron and their association with outcome and immunological recovery in Myelodysplastic syndromes or Acute Myeloid Leukemia patients undergoing allogeneic stem cell transplantation


  • MANNHEIM — Dr Susanne SAUßELE

    Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project - Coordinator of research network

    • Institution/s:
      — III. Medizinische Universitäts-Klinik, Universitätsklinikum Mannheim
      — Universitätsmedizin Mannheim
    • Research area/topic::

      Competence Network 'acute and chronic leukemias'


  • MANNHEIM — Pr Rüdiger HEHLMANN

    Principal investigator of clinical trial - Investigator of research project - Coordinator of research network - Director of department

    • Institution/s:
      — III. Medizinische Universitäts-Klinik, Universitätsklinikum Mannheim
      — Universitätsklinikum Mannheim
    • Research area/topic::

      EUROPEAN LEUKEMIA NET: Strengthen and develop scientific and technological excellence in research and therapy of leukemia (coordination)


  • ULM — Pr Hartmut DÖHNER

    Coordinator of expert centre - Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Universitätsklinikum Ulm am Oberen Eselsberg
      — Integratives Tumorzentrum des Universitätsklinikums Ulm
    • Research area/topic::

      AMLSG BIO: Registry Study on Patient Characteristics, Biological Disease Profile and Clinical Outcome in Acute Myeloid Leukemia and Related Neoplasms, and Higher Risk Myelodysplastic Syndrome - The Biology and Outcome (BiO)-Project


  • HUDDINGE — Pr Eva HELLSTRÖM-LINDBERG

    Clinical expert - Investigator of research project

    • Institution/s:
      — Karolinska Universitetssjukhuset - Solna
      — Karolinska Institutet, Karolinska Institutet - Huddinge
    • Research area/topic::

      Molecular pathogenesis in myelodysplastic syndromes and acute myeloid leukemia


  • STOCKHOLM — Pr Eva HELLSTRÖM-LINDBERG

    Clinical expert - Investigator of research project

    • Institution/s:
      — Karolinska Universitetssjukhuset - Solna
      — Karolinska Institutet, Karolinska Institutet - Huddinge
    • Research area/topic::

      Molecular pathogenesis in myelodysplastic syndromes and acute myeloid leukemia



Mendelian

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Myelodysplastic Syndrome; Mds Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Detection by FISH of RPN1/MECOM (inv/t(3)).

By CGC Genetics (Portugal).

RPN1, MECOM
Specificity
50 %
Genes
20 %
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded.

By PreventionGenetics PreventionGenetics (United States).

RUNX1, WAS, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CD36, MASTL, CYCS, ANKRD26, NBEAL2, ETV6, MECOM, FLI1, FLNA, FYB1, GATA1, GFI1B, GP1BA , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
20 %
Thrombocytopenia NGS Panel.

By Connective Tissue Gene Tests (United States).

RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
20 %
Thrombocytopenia Deletion / Duplication Panel.

By Connective Tissue Gene Tests (United States).

RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
20 %
Thrombocytopenia Comprehensive Panel.

By Connective Tissue Gene Tests (United States).

RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
20 %
Fluorescent in situ Hybridization - Hematopathology.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA (United States).

BCL6, BCR, RUNX1, ABI1, TCF3, TP53, DLEU1, CRLF2, RUNX1T1, CBFB, CDKN2A, CDKN2C, CKS1B, ETV6, MECOM, FGFR1, IGH, JAK2, MYC, ABL1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
20 %
FISH, MDS Panel.

By Cytogenetics and Molecular Pathology Laboratory UP Health System Marquette (United States).

EGR1, MECOM, MYBL2, PTPRT
Specificity
25 %
Genes
20 %
MECOM.

By Fulgent Genetics Fulgent Genetics (United States).

MECOM
Specificity
100 %
Genes
20 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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