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Megakaryocyte dysplasia

MedGen UID:
1611304
Concept ID:
C4540467
Finding
Synonym: Dysmegakaryopoiesis
 
HPO: HP:0031689

Definition

The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMegakaryocyte dysplasia

Conditions with this feature

Fanconi anemia, complementation group W
MedGen UID:
1621245
Concept ID:
C4521564
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MedGen UID:
1704278
Concept ID:
C5200934
Disease or Syndrome
MYH9-related disease (MYH9-RD) is characterized in all affected individuals by hematologic features present from birth consisting of platelet macrocytosis (i.e., >40% of platelets larger than 3.9 µm in diameter), thrombocytopenia (platelet count <150 x 109/L), and aggregates of the MYH9 protein in the cytoplasm of neutrophil granulocytes. Most affected individuals develop one or more additional extrahematologic manifestations of the disease over their lifetime, including sensorineural hearing loss, renal disease (manifesting initially as glomerular nephropathy), presenile cataracts, and/or elevation of liver enzymes.
VEXAS syndrome
MedGen UID:
1765785
Concept ID:
C5435753
Disease or Syndrome
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) is an adult-onset inflammatory disease that primarily affects males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death (summary by Beck et al., 2020).
Monosomy 7 myelodysplasia and leukemia syndrome 2
MedGen UID:
1762901
Concept ID:
C5436668
Disease or Syndrome
Monosomy 7 myelodysplasia and leukemia syndrome-2 (M7MLS2) is an autosomal dominant hematologic disorder characterized by onset of pancytopenia, acute myelogenous leukemia (AML), and variable features of myelodysplastic syndrome (MDS) usually in the first decades of life. Bone marrow cells show monosomy 7. Germline mutations in the SAMD9 gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by Wong et al., 2018). For a discussion of genetic heterogeneity of monosomy 7 myelodysplasia and leukemia syndrome, see 252270.

Recent clinical studies

Etiology

Barosi G, Rosti V, Massa M, Campanelli R, Villani L, Catarsi P, Carolei A, Abbà C, Lodigiani C, Primignani M, Gregato G, Bertolini F, Magrini U, Gale RP
Acta Haematol 2022;145(1):30-37. Epub 2021 Jul 19 doi: 10.1159/000517207. PMID: 34280924
Goyal T, Tu ZJ, Wang Z, Cook JR
Am J Clin Pathol 2021 Oct 13;156(5):829-838. doi: 10.1093/ajcp/aqab027. PMID: 33929502
Palacios-Campos A, Gutierrez O, Fabian-Morales E, Avilés A, Candelaria M
Rev Med Chil 2020 Sep;148(9):1357-1361. doi: 10.4067/S0034-98872020000901357. PMID: 33399713
Chisholm KM, Denton C, Keel S, Geddis AE, Xu M, Appel BE, Cantor AB, Fleming MD, Shimamura A
Pediatr Dev Pathol 2019 Jul-Aug;22(4):315-328. Epub 2019 Jan 2 doi: 10.1177/1093526618822108. PMID: 30600763
Goasguen JE, Bennett JM, Bain BJ, Brunning RD, Vallespí MT, Tomonaga M, Zini G, Renault A; International Working Group on Morphology of MDS IWGM-MDS
Leuk Res 2016 Jun;45:75-81. Epub 2016 Apr 11 doi: 10.1016/j.leukres.2016.04.009. PMID: 27107657

Diagnosis

Barosi G, Campanelli R, Massa M, Catarsi P, Carolei A, Abbà C, Villani L, Magrini U, Gregato G, Bertolini F, de Silvestri A, Gale RP, Rosti V
Acta Haematol 2023;146(1):14-25. Epub 2022 Nov 7 doi: 10.1159/000527284. PMID: 36349787
Barosi G, Rosti V, Massa M, Campanelli R, Villani L, Catarsi P, Carolei A, Abbà C, Lodigiani C, Primignani M, Gregato G, Bertolini F, Magrini U, Gale RP
Acta Haematol 2022;145(1):30-37. Epub 2021 Jul 19 doi: 10.1159/000517207. PMID: 34280924
Chisholm KM, Denton C, Keel S, Geddis AE, Xu M, Appel BE, Cantor AB, Fleming MD, Shimamura A
Pediatr Dev Pathol 2019 Jul-Aug;22(4):315-328. Epub 2019 Jan 2 doi: 10.1177/1093526618822108. PMID: 30600763
Goasguen JE, Bennett JM, Bain BJ, Brunning RD, Vallespí MT, Tomonaga M, Zini G, Renault A; International Working Group on Morphology of MDS IWGM-MDS
Leuk Res 2016 Jun;45:75-81. Epub 2016 Apr 11 doi: 10.1016/j.leukres.2016.04.009. PMID: 27107657
Barosi G
Best Pract Res Clin Haematol 2014 Jun;27(2):129-40. Epub 2014 Jul 18 doi: 10.1016/j.beha.2014.07.004. PMID: 25189724

Therapy

Barosi G, Rosti V, Massa M, Campanelli R, Villani L, Catarsi P, Carolei A, Abbà C, Lodigiani C, Primignani M, Gregato G, Bertolini F, Magrini U, Gale RP
Acta Haematol 2022;145(1):30-37. Epub 2021 Jul 19 doi: 10.1159/000517207. PMID: 34280924
Palacios-Campos A, Gutierrez O, Fabian-Morales E, Avilés A, Candelaria M
Rev Med Chil 2020 Sep;148(9):1357-1361. doi: 10.4067/S0034-98872020000901357. PMID: 33399713
Bartakke S, Abdelhaleem M, Carcao M
Br J Haematol 2008 Apr;141(2):133. doi: 10.1111/j.1365-2141.2008.06979.x. PMID: 18353161
Gesundheit B, Kirby M, Lau W, Koren G, Abdelhaleem M
J Pediatr Hematol Oncol 2002 Oct;24(7):589-90. doi: 10.1097/00043426-200210000-00022. PMID: 12368704

Prognosis

Barosi G, Rosti V, Gale RP
Leukemia 2023 Apr;37(4):725-727. Epub 2023 Mar 4 doi: 10.1038/s41375-023-01861-9. PMID: 36871061Free PMC Article
Palacios-Campos A, Gutierrez O, Fabian-Morales E, Avilés A, Candelaria M
Rev Med Chil 2020 Sep;148(9):1357-1361. doi: 10.4067/S0034-98872020000901357. PMID: 33399713
Rudzki Z, Kawa R, Okoñ K, Szczygieł E, Stachura J
Virchows Arch 2006 Jan;448(1):59-67. Epub 2005 Oct 12 doi: 10.1007/s00428-005-0077-1. PMID: 16220296
Hatfill SJ, Fester ED, Steytler JG
Hematol Pathol 1992;6(2):87-93. PMID: 1607344

Clinical prediction guides

Palacios-Campos A, Gutierrez O, Fabian-Morales E, Avilés A, Candelaria M
Rev Med Chil 2020 Sep;148(9):1357-1361. doi: 10.4067/S0034-98872020000901357. PMID: 33399713

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