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Erythroid dysplasia

MedGen UID:
459714
Concept ID:
C2987488
Finding
Synonym: Erythrodysplasia
 
HPO: HP:0031688

Definition

Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. [from HPO]

Term Hierarchy

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

Conditions with this feature

Megaloblastic anemia, folate-responsive
MedGen UID:
440842
Concept ID:
C2749656
Finding
Folate-responsive megaloblastic anemia (MEGAF) is an autosomal recessive metabolic disorder characterized by megaloblastic anemia resulting from decreased folate transport into erythrocytes. Although serum levels of folate are normal, there is folate deficiency in tissues, including erythrocytes and possibly nerve cells. Serum homocysteine levels are increased and vitamin B12 levels may be decreased. Treatment with oral folate corrects the anemia and normalizes homocysteine (summary by Svaton et al., 2020)
DDX41-related hematologic malignancy predisposition syndrome
MedGen UID:
895780
Concept ID:
C4225174
Finding
DDX41-associated familial myelodysplastic syndrome and acute myeloid leukemia (MDS/AML) is characterized by an increased risk of myeloid neoplasms, lymphoid neoplasms, adult-onset single- or multiple-lineage cytopenias (including aplastic anemia), and red blood cell macrocytosis. The most common myeloid neoplasms include MDS, AML, and therapy-related myeloid neoplasms. Chronic myelomonocytic leukemia, chronic myeloid leukemia, and myeloproliferative neoplasms are less common. Lymphoid neoplasms include non-Hodgkin lymphoma, Hodgkin lymphoma, multiple myeloma, chronic lymphocytic leukemia, and acute lymphoblastic leukemia.
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).

Professional guidelines

PubMed

Senent L, Arenillas L, Luño E, Ruiz JC, Sanz G, Florensa L
Haematologica 2013 Apr;98(4):568-75. Epub 2012 Oct 12 doi: 10.3324/haematol.2012.071449. PMID: 23065505Free PMC Article

Recent clinical studies

Etiology

Sorigue M
Expert Rev Hematol 2023 Jul-Dec;16(12):1049-1062. Epub 2023 Dec 18 doi: 10.1080/17474086.2023.2289534. PMID: 38018383
Bauer K, Machherndl-Spandl S, Kazianka L, Sadovnik I, Gültekin S, Suessner S, Proell J, Lauf J, Hoermann G, Eisenwort G, Häfner N, Födermayr-Mayrleitner M, Schmolke AS, van der Kouwe E, Platzbecker U, Lion T, Weltermann A, Zach O, Webersinke G, Germing U, Gabriel C, Sperr WR, Béné MC, Staber PB, Bettelheim P, Valent P
Leukemia 2023 Nov;37(11):2250-2260. Epub 2023 Sep 6 doi: 10.1038/s41375-023-02015-7. PMID: 37673973Free PMC Article
Todisco G, Creignou M, Bernard E, Björklund AC, Moura PL, Tesi B, Mortera-Blanco T, Sander B, Jansson M, Walldin G, Barbosa I, Reinsbach SE, Hofman IJ, Nilsson C, Yoshizato T, Dimitriou M, Chang D, Olafsdottir S, Venckute Larsson S, Tobiasson M, Malcovati L, Woll P, Jacobsen SEW, Papaemmanuil E, Hellström-Lindberg E
Clin Cancer Res 2023 Oct 13;29(20):4256-4267. doi: 10.1158/1078-0432.CCR-23-0538. PMID: 37498312Free PMC Article
Laranjeira P, Rodrigues R, Carvalheiro T, Constanço C, Vitória H, Matarraz S, Trindade H, Órfão A, Paiva A
Leuk Res 2015 Mar;39(3):361-70. Epub 2014 Dec 24 doi: 10.1016/j.leukres.2014.12.009. PMID: 25582385
Xu F, Wu L, He Q, Zhang Z, Chang C, Li X
Intern Med J 2012 Apr;42(4):401-11. doi: 10.1111/j.1445-5994.2011.02630.x. PMID: 22032631

Diagnosis

Sorigue M
Expert Rev Hematol 2023 Jul-Dec;16(12):1049-1062. Epub 2023 Dec 18 doi: 10.1080/17474086.2023.2289534. PMID: 38018383
Oliveira M, Laranjeira P, Fortuna M, Bártolo R, Ribeiro A, Santos M, Cortesão E, Marques G, Sarmento-Ribeiro AB, Vitória H, Ribeiro L, Paiva A
Cytometry B Clin Cytom 2019 Sep;96(5):417-425. Epub 2019 Jun 3 doi: 10.1002/cyto.b.21792. PMID: 31157955
Goasguen JE, Bennett JM, Bain BJ, Brunning R, Vallespi MT, Tomonaga M, Zini G, Renault A; (The International Working Group on Morphology of MDS)
Br J Haematol 2018 Aug;182(4):526-533. Epub 2018 Jun 19 doi: 10.1111/bjh.15435. PMID: 29917221
Malcovati L, Cazzola M
Br J Haematol 2016 Sep;174(6):847-58. Epub 2016 Jul 8 doi: 10.1111/bjh.14215. PMID: 27391606
Xu F, Wu L, He Q, Zhang Z, Chang C, Li X
Intern Med J 2012 Apr;42(4):401-11. doi: 10.1111/j.1445-5994.2011.02630.x. PMID: 22032631

Therapy

Bondu S, Alary AS, Lefèvre C, Houy A, Jung G, Lefebvre T, Rombaut D, Boussaid I, Bousta A, Guillonneau F, Perrier P, Alsafadi S, Wassef M, Margueron R, Rousseau A, Droin N, Cagnard N, Kaltenbach S, Winter S, Kubasch AS, Bouscary D, Santini V, Toma A, Hunault M, Stamatoullas A, Gyan E, Cluzeau T, Platzbecker U, Adès L, Puy H, Stern MH, Karim Z, Mayeux P, Nemeth E, Park S, Ganz T, Kautz L, Kosmider O, Fontenay M
Sci Transl Med 2019 Jul 10;11(500) doi: 10.1126/scitranslmed.aav5467. PMID: 31292266Free PMC Article
Todd N, Boucher JE, Bassal M, Dumont T, Fleming N
J Pediatr Adolesc Gynecol 2018 Dec;31(6):625-628. Epub 2018 Jun 6 doi: 10.1016/j.jpag.2018.05.007. PMID: 29885367
Copley GB, Schnatter AR, Armstrong TW, Irons RD, Chen M, Wang XQ, Kerzic P
J Occup Environ Med 2017 Apr;59(4):349-355. doi: 10.1097/JOM.0000000000000952. PMID: 28146040Free PMC Article
Cazzola M, Della Porta MG, Malcovati L
Hematology Am Soc Hematol Educ Program 2008:166-75. doi: 10.1182/asheducation-2008.1.166. PMID: 19074076

Prognosis

Duarte TL, Lopes M, Oliveira M, Santos AG, Vasco C, Reis JP, Antunes AR, Gonçalves A, Chacim S, Oliveira C, Porto B, Teles MJ, Moreira AC, Silva AMN, Schwessinger R, Drakesmith H, Henrique R, Porto G, Duarte D
Leukemia 2024 Jan;38(1):96-108. Epub 2023 Oct 19 doi: 10.1038/s41375-023-02067-9. PMID: 37857886
Bauer K, Machherndl-Spandl S, Kazianka L, Sadovnik I, Gültekin S, Suessner S, Proell J, Lauf J, Hoermann G, Eisenwort G, Häfner N, Födermayr-Mayrleitner M, Schmolke AS, van der Kouwe E, Platzbecker U, Lion T, Weltermann A, Zach O, Webersinke G, Germing U, Gabriel C, Sperr WR, Béné MC, Staber PB, Bettelheim P, Valent P
Leukemia 2023 Nov;37(11):2250-2260. Epub 2023 Sep 6 doi: 10.1038/s41375-023-02015-7. PMID: 37673973Free PMC Article
Todisco G, Creignou M, Bernard E, Björklund AC, Moura PL, Tesi B, Mortera-Blanco T, Sander B, Jansson M, Walldin G, Barbosa I, Reinsbach SE, Hofman IJ, Nilsson C, Yoshizato T, Dimitriou M, Chang D, Olafsdottir S, Venckute Larsson S, Tobiasson M, Malcovati L, Woll P, Jacobsen SEW, Papaemmanuil E, Hellström-Lindberg E
Clin Cancer Res 2023 Oct 13;29(20):4256-4267. doi: 10.1158/1078-0432.CCR-23-0538. PMID: 37498312Free PMC Article
Malcovati L, Cazzola M
Br J Haematol 2016 Sep;174(6):847-58. Epub 2016 Jul 8 doi: 10.1111/bjh.14215. PMID: 27391606
Laranjeira P, Rodrigues R, Carvalheiro T, Constanço C, Vitória H, Matarraz S, Trindade H, Órfão A, Paiva A
Leuk Res 2015 Mar;39(3):361-70. Epub 2014 Dec 24 doi: 10.1016/j.leukres.2014.12.009. PMID: 25582385

Clinical prediction guides

Duarte TL, Lopes M, Oliveira M, Santos AG, Vasco C, Reis JP, Antunes AR, Gonçalves A, Chacim S, Oliveira C, Porto B, Teles MJ, Moreira AC, Silva AMN, Schwessinger R, Drakesmith H, Henrique R, Porto G, Duarte D
Leukemia 2024 Jan;38(1):96-108. Epub 2023 Oct 19 doi: 10.1038/s41375-023-02067-9. PMID: 37857886
Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A
J Med Genet 2024 Feb 21;61(3):239-243. doi: 10.1136/jmg-2023-109444. PMID: 37833059
Sorigue M
Expert Rev Hematol 2023 Jul-Dec;16(12):1049-1062. Epub 2023 Dec 18 doi: 10.1080/17474086.2023.2289534. PMID: 38018383
Todisco G, Creignou M, Bernard E, Björklund AC, Moura PL, Tesi B, Mortera-Blanco T, Sander B, Jansson M, Walldin G, Barbosa I, Reinsbach SE, Hofman IJ, Nilsson C, Yoshizato T, Dimitriou M, Chang D, Olafsdottir S, Venckute Larsson S, Tobiasson M, Malcovati L, Woll P, Jacobsen SEW, Papaemmanuil E, Hellström-Lindberg E
Clin Cancer Res 2023 Oct 13;29(20):4256-4267. doi: 10.1158/1078-0432.CCR-23-0538. PMID: 37498312Free PMC Article
Eidenschink Brodersen L, Menssen AJ, Wangen JR, Stephenson CF, de Baca ME, Zehentner BK, Wells DA, Loken MR
Cytometry B Clin Cytom 2015 Mar;88(2):125-35. Epub 2014 Dec 10 doi: 10.1002/cyto.b.21199. PMID: 25490867

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