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Monosomal karyotype (MK) in myeloid malignancies

Written2011-04Joana Perdigão, Maria Gomes da Silva
Laboratorio de Hemato-Oncologia - Seccao de Citogenetica, Instituto Portugues de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1574
Note Monosomal karyotype is defined as the presence of at least 2 autosomal monosomies or a single autosomal monosomy associated with at least one structural abnormality.

Clinics and Pathology

Disease Acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), primary myelofibrosis (PMF)
Epidemiology In AML, the frequency of monosomal karyotype increases with age: 4% in patients ≤ 30 years; 6-10% in patients ≤ 60 years and 13-20% above 60 years.
The frequency of MK cases is significantly higher in t-AML compared with de novo AML (24% vs 10%).
In MDS, MK frequency among patients with a complex karyotype is 83%. In children with advanced MDS MK frequency is 15%.
In PMF patients, MK is present in 42% of complex karyotype cases.
Clinics Monosomal karyotype is associated with prior chemotherapy or history of abnormal blood counts (Estey, 2010).
Prognosis Very poor prognosis, worse with advanced age.
In comparison with non-MK patients, AML, MDS and PMF patients with a monosomal karyotype have lower overall survival rates. In MDS and PMF, the risk of leukemic transformation is higher in MK patients than in patients with non-MK complex karyotypes.
In MK-AML, overall survival at 4 years after diagnosis is 3-4% (vs 26-27% for non-CBF, non-MK AML patients) and event-free survival 2%. Overall survival decreases with advancing age: 17-40% for patients ≤ 30 years, 3-4% ≤ 60 years and 1% in patients older than 60 years. Complete remission rate is generally low, and also worse in older groups (24-52% under 60 years and 13-34% in patients older than 60 years).
In adult MDS patients with MK, 2-year survival is 6% (vs 23% for complex karyotype without monosomies) and 1-year leukemia risk is 32% (vs 14% for complex karyotype without monosomies). In advanced childhood MDS, the presence of a MK does not seem to be an independent adverse prognostic factor.
In PMF, the median survival for MK patients is 6 months, 2-year survival rate is 17% and 2-year leukemic transformation rate is 29% (vs 24 months, 51% and 8,3% in complex karyotype without monosomies).
As with most prognostic factors, the significance of monosomal karyotype seems to depend on the treatment strategy (Itzykson et al., 2011; Löwenberg et al., 2011).


Note Monosomal karyotype group does not include AML with t(15;17)(q22;q21) or CBF abnormalities (t(8;21)(q22;q22); inv(16)(p13q22)/t(16;16)(p13;q22)); monosomies of sex chromosomes (-X,-Y) are excluded due to apparent lack of negative prognostic effect.
Cytogenetics Morphological Two or more autosomal monosomies or one autosomal monosomy associated with at least one structural abnormality.
The most frequent autosomal monosomies in MK involve the chromosomes 7, 5, 17 and 18.

Genes involved and Proteins

Note Genes involved are unknown.


Acute myeloid leukemia with monosomal karyotype at the far end of the unfavorable prognostic spectrum.
Breems DA, Lowenberg B.
Haematologica. 2011 Apr;96(4):491-3.
PMID 21454879
Monosomal karyotype in acute myeloid leukemia: a better indicator of poor prognosis than a complex karyotype.
Breems DA, Van Putten WL, De Greef GE, Van Zelderen-Bhola SL, Gerssen-Schoorl KB, Mellink CH, Nieuwint A, Jotterand M, Hagemeijer A, Beverloo HB, Lowenberg B.
J Clin Oncol. 2008 Oct 10;26(29):4791-7. Epub 2008 Aug 11.
PMID 18695255
High cytogenetic or molecular genetic risk acute myeloid leukemia.
Estey E.
Hematology Am Soc Hematol Educ Program. 2010;2010:474-80.
PMID 21239839
Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome.
Gohring G, Michalova K, Beverloo HB, Betts D, Harbott J, Haas OA, Kerndrup G, Sainati L, Bergstraesser E, Hasle H, Stary J, Trebo M, van den Heuvel-Eibrink MM, Zecca M, van Wering ER, Fischer A, Noellke P, Strahm B, Locatelli F, Niemeyer CM, Schlegelberger B.
Blood. 2010 Nov 11;116(19):3766-9. Epub 2010 Aug 27.
PMID 20802024
Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials.
Grimwade D, Hills RK, Moorman AV, Walker H, Chatters S, Goldstone AH, Wheatley K, Harrison CJ, Burnett AK; National Cancer Research Institute Adult Leukaemia Working Group.
Blood. 2010 Jul 22;116(3):354-65. Epub 2010 Apr 12.
PMID 20385793
Prognostic significance of monosomal karyotype in higher risk myelodysplastic syndrome treated with azacitidine.
Itzykson R, Thepot S, Eclache V, Quesnel B, Dreyfus F, Beyne-Rauzy O, Turlure P, Vey N, Recher C, Boehrer S, Gardin C, Ades L, Fenaux P.
Leukemia. 2011 Apr 5. [Epub ahead of print]
PMID 21468040
The impact of therapy-related acute myeloid leukemia (AML) on outcome in 2853 adult patients with newly diagnosed AML.
Kayser S, Dohner K, Krauter J, Kohne CH, Horst HA, Held G, von Lilienfeld-Toal M, Wilhelm S, Kundgen A, Gotze K, Rummel M, Nachbaur D, Schlegelberger B, Gohring G, Spath D, Morlok C, Zucknick M, Ganser A, Dohner H, Schlenk RF; German-Austrian AMLSG.
Blood. 2011 Feb 17;117(7):2137-45. Epub 2010 Dec 2.
PMID 21127174
Cytarabine dose for acute myeloid leukemia.
Lowenberg B, Pabst T, Vellenga E, van Putten W, Schouten HC, Graux C, Ferrant A, Sonneveld P, Biemond BJ, Gratwohl A, de Greef GE, Verdonck LF, Schaafsma MR, Gregor M, Theobald M, Schanz U, Maertens J, Ossenkoppele GJ; Dutch-Belgian Cooperative Trial Group for Hemato-Oncology (HOVON) and Swiss Group for Clinical Cancer Research (SAKK) Collaborative Group.
N Engl J Med. 2011 Mar 17;364(11):1027-36.
PMID 21410371
Prognostic impact of monosomal karyotype in young adult and elderly acute myeloid leukemia: the Southwest Oncology Group (SWOG) experience.
Medeiros BC, Othus M, Fang M, Roulston D, Appelbaum FR.
Blood. 2010 Sep 30;116(13):2224-8. Epub 2010 Jun 18.
PMID 20562328
Monosomal karyotype in myelodysplastic syndromes, with or without monosomy 7 or 5, is prognostically worse than an otherwise complex karyotype.
Patnaik MM, Hanson CA, Hodnefield JM, Knudson R, Van Dyke DL, Tefferi A.
Leukemia. 2011 Feb;25(2):266-70. Epub 2010 Nov 12.
PMID 21072042
Monosomal karyotype in primary myelofibrosis is detrimental to both overall and leukemia-free survival.
Vaidya R, Caramazza D, Begna KH, Gangat N, Van Dyke DL, Hanson CA, Pardanani A, Tefferi A.
Blood. 2011 May 26;117(21):5612-5. Epub 2011 Mar 30.
PMID 21450904


This paper should be referenced as such :
Perdigão, J ; Gomes, da Silva M
Monosomal karyotype (MK) in myeloid malignancies
Atlas Genet Cytogenet Oncol Haematol. 2011;15(10):890-891.
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COSMICHisto = - Site = haematopoietic_and_lymphoid_tissue (COSMIC)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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