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-21 or monosomy 21 (solely)

Written2002-08Daniel L. Van Dyke
FACMG, Cytogenetics Laboratory, Mayo Clinic, USA

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ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
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 1225
Note True monosomy 21 mosaicism can appear as the sole cytogenetic abnormality but it is rare. Many of the reported cases in the literature probably represent technical artifacts due to random loss of chromosome 21 in multiple cells by chance alone. Suspected monosomy 21 mosaicism should be confirmed by analysis of additional metaphase cells and by FISH analysis of interphase cells. Of the reported cases that are most likely to represent true clonal disease, Acute myeloid leukemia (AML) and chronic myelogenous leukemia (CML) were the most common diagnoses, with one case each of myelodyplasia (MDS), MDS/MPD (myelodysplastic syndrome), acute lymphocytic leukemia (ALL), and multiple myeloma .

Clinics and Pathology

Disease See Acute myeloid leukemia
Nine cases of AML have been reported, with 14-81% of metaphase cells exhibiting monosomy 21 as a sole cytogenetic abnormality. These include four with AML-M2, two with M4, and one with M5.
Epidemiology Most of the AML patients were male and most over age 40 at diagnosis.
Prognosis Some of the patients achieved complete remission, with survival ranging from 30+ months to 54+ months. Other patients succumbed to their disease in 2-13 months.

Disease See Chronic lymphocytic leukemia (CLL)
Four cases of CLL have been reported, with 15-41% of metaphase cells exhibiting monosomy 21 as a sole cytogenetic abnormality. Most cases were staged A/O in the Binet/Rai classification.
Epidemiology All five cases were males aged 45-77 years
Cytogenetics One CLL patient exhibited a 13q deletion by FISH that was not observed in the metaphase analysis.
Prognosis Survival was 77 months and 90+ months in the two cases where information was provided.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


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This paper should be referenced as such :
Van Dyke, DL
-21 or monosomy 21 (solely)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(1):26-27.
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External links

arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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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