Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

-21 or monosomy 21 (solely)

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

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
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.

Bibliography

Improvement of cytogenetic results in B-cell chronic lymphocytic leukemia using immuno-purified leukemic cells.
Brizard A, Brizard F, Lessard M, Dreyfus B, Guilhot F, Tanzer J
Nouvelle revue francaise d'hematologie. 1993 ; 35 (1) : 103-105.
PMID 8511032
 
11q13 rearrangement in B cell chronic lymphocytic leukemia.
Brizard F, Dreyfus B, Guilhot F, Tanzer J, Brizard A
Leukemia & lymphoma. 1997 ; 25 (5-6) : 539-543.
PMID 9250825
 
Monosomy 21 in two patients with acute nonlymphocytic leukemia.
Chang JJ, Liu CJ, Liu JH, Chiou TJ, Tzeng CH, Chen PM
Cancer genetics and cytogenetics. 1992 ; 61 (2) : 122-125.
PMID 1638489
 
Differences in bone marrow cytogenetic characteristics between treated and untreated myeloma.
Clark RE, Geddes AD, Whittaker JA, Jacobs A
European journal of cancer & clinical oncology. 1989 ; 25 (12) : 1789-1793.
PMID 2632260
 
Cytogenetic profile of minimally differentiated (FAB M0) acute myeloid leukemia: correlation with clinicobiologic findings.
Cuneo A, Ferrant A, Michaux JL, Boogaerts M, Demuynck H, Van Orshoven A, Criel A, Stul M, Dal Cin P, Hernandez J
Blood. 1995 ; 85 (12) : 3688-3694.
PMID 7780152
 
Four novel non-random chromosome rearrangements in B-cell chronic lymphocytic leukaemia: 6p24-25 and 12p12-13 translocations, 4q21 anomalies and monosomy 21.
Cuneo A, Roberti MG, Bigoni R, Minotto C, Bardi A, Milani R, Tieghi A, Campioni D, Cavazzini F, De Angeli C, Negrini M, Castoldi G
British journal of haematology. 2000 ; 108 (3) : 559-564.
PMID 10759714
 
What happens subsequently in AML when cytogenetic abnormalities persist at bone marrow harvest? Results of the 10th UK MRC AML trial. Medical Research Council Leukaemia Working Parties.
Grimwade D, Walker H, Oliver F, Wheatley K, Clack R, Burnett A, Goldstone A
Bone marrow transplantation. 1997 ; 19 (11) : 1117-1123.
PMID 9193755
 
Correlation between chromosomal pattern, cytological subtypes, response to therapy, and survival in acute myeloid leukaemia.
Li YS, Khalid G, Hayhoe FG
Scandinavian journal of haematology. 1983 ; 30 (3) : 265-277.
PMID 6574588
 
Detection of clonal karyotypic abnormalities in most patients with acute nonlymphocytic leukemia examined using short-term culture techniques.
Misawa S, Hogge DE, Oguma N, Wiernik PH, Testa JR
Cancer genetics and cytogenetics. 1986 ; 22 (3) : 239-251.
PMID 3708555
 
Prognosis in acute lymphoblastic leukemia of childhood as determined by cytogenetic studies at diagnosis.
Morse HG, Odom LF, Tubergen D, Hays T, Blake M, Robinson A
Medical and pediatric oncology. 1983 ; 11 (5) : 310-318.
PMID 6579341
 
Nonrandom cytogenetic changes in human acute leukemia and their clinical implications.
Ohyashiki K
Cancer genetics and cytogenetics. 1984 ; 11 (4) : 453-471.
PMID 6704943
 
Frequent clonal abnormalities of chromosome band 13q14 in B-cell chronic lymphocytic leukemia: multiple clones, subclones, and nonclonal alterations in 82 midwestern patients.
Peterson LC, Lindquist LL, Church S, Kay NE
Genes, chromosomes & cancer. 1992 ; 4 (4) : 273-280.
PMID 1377933
 
Chromosomal alterations in acute leukemia patients studied with improved culture methods.
Testa JR, Misawa S, Oguma N, Van Sloten K, Wiernik PH
Cancer research. 1985 ; 45 (1) : 430-434.
PMID 3855285
 
Chromosome studies on 30 Chinese patients with acute nonlymphocytic leukemia in Taiwan.
Tien HF, Wang CH, Lee FY, Chuang SM, Chen YC, Lin DT, Shen MC, Liu CH
Cancer genetics and cytogenetics. 1988 ; 32 (1) : 101-108.
PMID 3162701
 
Monosomy 21 in hematologic diseases.
Van Dyke DL, Wiktor A
Cancer genetics and cytogenetics. 2003 ; 142 (2) : 137-141.
PMID 12699891
 

Citation

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.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/mono21ID1225.html


External links

arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease database-21 or monosomy 21 (solely)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 17:18:52 CEST 2017


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.