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Myelodysplastic/myeloproliferative disease

MedGen UID:
977559
•Concept ID:
CN294254
•
Disease or Syndrome
Synonym: myelodysplastic/myeloproliferative disease
 
Monarch Initiative: MONDO:0020077
Orphanet: ORPHA98275

Definition

Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS. [from MONDO]

Professional guidelines

PubMed

Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management.
Tefferi A, Vannucchi AM, Barbui T
Am J Hematol 2024 Apr;99(4):697-718. Epub 2024 Jan 25 doi: 10.1002/ajh.27216. PMID: 38269572
Chronic myelomonocytic leukemia: 2022 update on diagnosis, risk stratification, and management.
Patnaik MM, Tefferi A
Am J Hematol 2022 Mar 1;97(3):352-372. Epub 2022 Jan 27 doi: 10.1002/ajh.26455. PMID: 34985762
Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.
Stockklausner C, Duffert CM, Cario H, Knöfler R, Streif W, Kulozik AE; THROMKID-Plus Studiengruppe der Gesellschaft für Thrombose- und Hämostaseforschung (GTH) and of Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH)
Ann Hematol 2021 Jul;100(7):1647-1665. Epub 2021 Mar 12 doi: 10.1007/s00277-021-04485-0. PMID: 33712866Free PMC Article

Recent clinical studies

Etiology

Allogeneic stem cell transplantation for trisomy 8-positive myelodysplastic syndrome or myelodysplastic/myeloproliferative disease with refractory Behçet's disease: Case report and the review of literature.
Onaka T, Nakano K, Uemoto Y, Miyakawa N, Otsuka Y, Ogura-Kato A, Iwai F, Tanaka Y, Yonezawa A
Mod Rheumatol Case Rep 2022 Jun 24;6(2):273-277. doi: 10.1093/mrcr/rxac032. PMID: 35365826
Chronic myelomonocytic leukemia - a review.
Thomopoulos TP, Bouhla A, Papageorgiou SG, Pappa V
Expert Rev Hematol 2021 Jan;14(1):59-77. Epub 2020 Dec 12 doi: 10.1080/17474086.2021.1860004. PMID: 33275852
Acute myeloid leukemia with myelodysplasia-related changes diagnosed with multilineage dysplasia alone demonstrates a superior clinical outcome.
Jiang G, Capo-Chichi JM, Liu A, Atenafu EG, Guo R, Tierens A, Minden MD, Chang H
Hum Pathol 2020 Oct;104:117-126. Epub 2020 Aug 13 doi: 10.1016/j.humpath.2020.08.003. PMID: 32798550
Flow cytometric analysis of myelomonocytic cells by a pattern recognition approach is sensitive and specific in diagnosing myelodysplastic syndrome and related marrow diseases: emphasis on a global evaluation and recognition of diagnostic pitfalls.
Stachurski D, Smith BR, Pozdnyakova O, Andersen M, Xiao Z, Raza A, Woda BA, Wang SA
Leuk Res 2008 Feb;32(2):215-24. Epub 2007 Aug 1 doi: 10.1016/j.leukres.2007.06.012. PMID: 17675229
Ringed sideroblasts with thrombocytosis: an uncommon mixed myelodysplastic/myeloproliferative disease of older adults.
Shaw GR
Br J Haematol 2005 Oct;131(2):180-4. doi: 10.1111/j.1365-2141.2005.05747.x. PMID: 16197447

Diagnosis

Allogeneic stem cell transplantation for trisomy 8-positive myelodysplastic syndrome or myelodysplastic/myeloproliferative disease with refractory Behçet's disease: Case report and the review of literature.
Onaka T, Nakano K, Uemoto Y, Miyakawa N, Otsuka Y, Ogura-Kato A, Iwai F, Tanaka Y, Yonezawa A
Mod Rheumatol Case Rep 2022 Jun 24;6(2):273-277. doi: 10.1093/mrcr/rxac032. PMID: 35365826
Chronic myelomonocytic leukemia - a review.
Thomopoulos TP, Bouhla A, Papageorgiou SG, Pappa V
Expert Rev Hematol 2021 Jan;14(1):59-77. Epub 2020 Dec 12 doi: 10.1080/17474086.2021.1860004. PMID: 33275852
Acute myeloid leukemia with myelodysplasia-related changes diagnosed with multilineage dysplasia alone demonstrates a superior clinical outcome.
Jiang G, Capo-Chichi JM, Liu A, Atenafu EG, Guo R, Tierens A, Minden MD, Chang H
Hum Pathol 2020 Oct;104:117-126. Epub 2020 Aug 13 doi: 10.1016/j.humpath.2020.08.003. PMID: 32798550
De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics.
Ismael O, Shimada A, Hama A, Elshazley M, Muramatsu H, Goto A, Sakaguchi H, Tanaka M, Takahashi Y, Yinyan X, Fukuda M, Miyajima Y, Yamashita Y, Horibe K, Hanada R, Ito M, Kojima S
Br J Haematol 2012 Jul;158(1):129-37. Epub 2012 May 10 doi: 10.1111/j.1365-2141.2012.09140.x. PMID: 22571758
Myelodysplastic/myeloproliferative disease with erythropoietic hyperplasia (erythroid preleukemia) and the unique translocation (8;9)(p23;p24): first description of a case.
Heiss S, Erdel M, Gunsilius E, Nachbaur D, Tzankov A
Hum Pathol 2005 Oct;36(10):1148-51. doi: 10.1016/j.humpath.2005.07.020. PMID: 16226118

Therapy

Allogeneic stem cell transplantation for trisomy 8-positive myelodysplastic syndrome or myelodysplastic/myeloproliferative disease with refractory Behçet's disease: Case report and the review of literature.
Onaka T, Nakano K, Uemoto Y, Miyakawa N, Otsuka Y, Ogura-Kato A, Iwai F, Tanaka Y, Yonezawa A
Mod Rheumatol Case Rep 2022 Jun 24;6(2):273-277. doi: 10.1093/mrcr/rxac032. PMID: 35365826
Acute myeloid leukemia with myelodysplasia-related changes diagnosed with multilineage dysplasia alone demonstrates a superior clinical outcome.
Jiang G, Capo-Chichi JM, Liu A, Atenafu EG, Guo R, Tierens A, Minden MD, Chang H
Hum Pathol 2020 Oct;104:117-126. Epub 2020 Aug 13 doi: 10.1016/j.humpath.2020.08.003. PMID: 32798550
Tooth developmental anomalies in severe combined immunodeficiency disease and juvenile myelomonocytic leukemia: common clinical features and treatment outcomes.
Cossellu G, Seramondi R, Benedicenti S, Farronato G, Olivi G, Angiero F
Eur J Paediatr Dent 2013 Dec;14(4):328-32. PMID: 24313588
Non-tuberculous mycobacterial infection localized in small intestine developing after allogeneic bone marrow transplantation.
Yamazaki R, Mori T, Nakazato T, Aisa Y, Imaeda H, Hisamatsu T, Hibi T, Okamoto S
Intern Med 2010;49(12):1191-3. Epub 2010 Jun 15 doi: 10.2169/internalmedicine.49.3288. PMID: 20558941
Juvenile myelomonocytic leukaemia: a case series.
Azma RZ, Zarina AL, Hamidah A, Jamal R, Sharifah NA, Ainoon O, Hamidah NH
Malays J Pathol 2009 Dec;31(2):121-8. PMID: 20514855

Prognosis

Chronic myelomonocytic leukemia - a review.
Thomopoulos TP, Bouhla A, Papageorgiou SG, Pappa V
Expert Rev Hematol 2021 Jan;14(1):59-77. Epub 2020 Dec 12 doi: 10.1080/17474086.2021.1860004. PMID: 33275852
Acute myeloid leukemia with myelodysplasia-related changes diagnosed with multilineage dysplasia alone demonstrates a superior clinical outcome.
Jiang G, Capo-Chichi JM, Liu A, Atenafu EG, Guo R, Tierens A, Minden MD, Chang H
Hum Pathol 2020 Oct;104:117-126. Epub 2020 Aug 13 doi: 10.1016/j.humpath.2020.08.003. PMID: 32798550
Detection of paroxysmal nocturnal hemoglobinuria clones in patients with myelodysplastic syndromes and related bone marrow diseases, with emphasis on diagnostic pitfalls and caveats.
Wang SA, Pozdnyakova O, Jorgensen JL, Medeiros LJ, Stachurski D, Anderson M, Raza A, Woda BA
Haematologica 2009 Jan;94(1):29-37. Epub 2008 Nov 10 doi: 10.3324/haematol.13601. PMID: 19001281Free PMC Article
Ringed sideroblasts with thrombocytosis: an uncommon mixed myelodysplastic/myeloproliferative disease of older adults.
Shaw GR
Br J Haematol 2005 Oct;131(2):180-4. doi: 10.1111/j.1365-2141.2005.05747.x. PMID: 16197447
Splenectomy in patients with mixed myelodysplastic/myeloproliferative disease.
Kraemer D, Rüdiger T, Reimer P, Müller-Hermelink HK, Wilhelm M
Ann Hematol 2002 Jun;81(6):308-11. Epub 2002 Jun 4 doi: 10.1007/s00277-002-0474-3. PMID: 12107559

Clinical prediction guides

Acute myeloid leukemia with myelodysplasia-related changes diagnosed with multilineage dysplasia alone demonstrates a superior clinical outcome.
Jiang G, Capo-Chichi JM, Liu A, Atenafu EG, Guo R, Tierens A, Minden MD, Chang H
Hum Pathol 2020 Oct;104:117-126. Epub 2020 Aug 13 doi: 10.1016/j.humpath.2020.08.003. PMID: 32798550
De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics.
Ismael O, Shimada A, Hama A, Elshazley M, Muramatsu H, Goto A, Sakaguchi H, Tanaka M, Takahashi Y, Yinyan X, Fukuda M, Miyajima Y, Yamashita Y, Horibe K, Hanada R, Ito M, Kojima S
Br J Haematol 2012 Jul;158(1):129-37. Epub 2012 May 10 doi: 10.1111/j.1365-2141.2012.09140.x. PMID: 22571758
Allogeneic stem cell transplantation for adults with myelodysplastic syndromes: importance of pretransplant disease burden.
Warlick ED, Cioc A, Defor T, Dolan M, Weisdorf D
Biol Blood Marrow Transplant 2009 Jan;15(1):30-8. doi: 10.1016/j.bbmt.2008.10.012. PMID: 19135940
Flow cytometric analysis of myelomonocytic cells by a pattern recognition approach is sensitive and specific in diagnosing myelodysplastic syndrome and related marrow diseases: emphasis on a global evaluation and recognition of diagnostic pitfalls.
Stachurski D, Smith BR, Pozdnyakova O, Andersen M, Xiao Z, Raza A, Woda BA, Wang SA
Leuk Res 2008 Feb;32(2):215-24. Epub 2007 Aug 1 doi: 10.1016/j.leukres.2007.06.012. PMID: 17675229
Hypermethylation of the imprinted NNAT locus occurs frequently in pediatric acute leukemia.
Kuerbitz SJ, Pahys J, Wilson A, Compitello N, Gray TA
Carcinogenesis 2002 Apr;23(4):559-64. doi: 10.1093/carcin/23.4.559. PMID: 11960906

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