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+13 or trisomy 13

Written2012-03Roy E Lee, Paola Dal Cin
Brigham, Women's Hospital, 75 Francis Street, Boston, MA 02115, 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 1033
Other names+13
Trisomy 13

Clinics and Pathology

Disease Minimally differentiated acute myeloid leukemia (AML) (FAB Type M0)
Acute myeloblastic leukemia, without maturation (FAB Type M1)
Acute monoblastic/monocytic leukemia (FAB Type M5)
Acute erythroid leukemia (FAB Type M6)
B-cell acute lymphoblastic leukemia (B-ALL)
Myelodysplastic syndrome
Idiopathic myelofibrosis
Atypical chronic myeloid leukemia (CML)
Epidemiology Trisomy 13 (when the sole cytogenetic abnormality) in AML manifests most commonly as minimally differentiated AML (FAB Type M0), and has a predilection for older men over 70. Mesa et al. found that the incidence rate of trisomy 13 was 0.7% of all AML in their respective study. Other associated diseases have been, to date, described rarely. Trisomy 13 in acute myeloblastic leukemia, without maturation (FAB Type M1) has been described in two older men from India (Trivedi et al., 2009). Trisomy 13 in atypical CML was described in 1 case report from China in 2011 (Guo-Yu et al., 2011).
Pathology According to Mehta et al. (1998), characteristic small hand-mirror blasts with cytoplasmic blebs and tails and scanty small granules were seen in 13/24 cases and 18/25 cases had small blasts would could easily be mistaken for lymphoblasts. Morphologic findings in bone marrow, according to Mesa et al. were: median of 80% cellularity, 21% median bone marrow blasts (range 1%-94%), myelodysplastic changes in 56%, reticulin fibrosis in 11%, and ringed sideroblasts in 11% of cases.
Treatment One recent study (Fehniger et al., 2009) reported induction of sustained morphologic and cytogenetic complete remission in 2 older patients with AML with trisomy 13 (as the sole cytogenetic abnormality) treated with lenalidomide. However, in regards to a 2011 Fehniger article re: clinical trials of high-dose lenalidomide for older male AML patients, the Swedish AML group responded via an online published letter that lenalidomide has not been shown to benefit older men with AML.
Prognosis Trisomy 13 in AML is considered a poor prognostic factor, with low complete remission rate and brief remission duration. Per Mehta et al. (1998), median patient survival was 3 months. The paper by Dohner et al. described 8 individuals with trisomy 13 as the sole cytogenetic abnormality, with survival ranging from 0.5 to 14.7 months. Mesa et al. report from a retrospective study a median survival of 6.1 months.

Genetics

AML with trisomy 13 is strongly associated with presence of RUNX1 mutations and a high expression of FLT3 mRNA. Because FLT3 is localized on chromosome 13, Dicker et al. (2007) hypothesized that RUNX1 mutations may cooperate with trisomy 13 in leukemogenesis by increasing FLT3 transcript levels. They found that increasing FLT3 transcript levels revealed a highly significant (P < 0.001) ~5-fold increase in AML with RUNX1 mutations and trisomy 13 compared with samples without trisomy 13.

Cytogenetics

Note Trisomy 13 occurs as a single clone in the majority of the cases so far reported. However, additional chromosome aberrations were observed in a second related clone. A few cases of tetrasomy 13 have been reported as second abnormal clone.
 
  GTG-banded metaphase spread showing the isolated trisomy 13.

Bibliography

Trisomy 13 in acute leukemia.
Baer MR, Bloomfield CD.
Leuk Lymphoma. 1992 May;7(1-2):1-6. (REVIEW)
PMID 1472919
 
Trisomy 13 is strongly associated with AML1/RUNX1 mutations and increased FLT3 expression in acute myeloid leukemia.
Dicker F, Haferlach C, Kern W, Haferlach T, Schnittger S.
Blood. 2007 Aug 15;110(4):1308-16. Epub 2007 May 7.
PMID 17485549
 
Trisomy 13: a new recurring chromosome abnormality in acute leukemia.
Dohner H, Arthur DC, Ball ED, Sobol RE, Davey FR, Lawrence D, Gordon L, Patil SR, Surana RB, Testa JR, et al.
Blood. 1990 Oct 15;76(8):1614-21.
PMID 1698482
 
A phase 2 study of high-dose lenalidomide as initial therapy for older patients with acute myeloid leukemia.
Fehniger TA, Uy GL, Trinkaus K, Nelson AD, Demland J, Abboud CN, Cashen AF, Stockerl-Goldstein KE, Westervelt P, DiPersio JF, Vij R.
Blood. 2011 Feb 10;117(6):1828-33. Epub 2010 Nov 4.
PMID 21051557
 
Trisomy 13 in a patient with acute myeloid leukemia M0 and unusual durable remission.
Gozzetti A, Crupi R, Tozzuoli D, Calabrese S, Bocchia M, Pirrotta MT, Raspadori D, Lauria F.
Cancer Genet Cytogenet. 2006 Jun;167(2):182.
PMID 16737922
 
Atypical chronic myeloid leukaemia with trisomy 13: a case report.
Guo-yu H, Chao-hui Y, Kui T, Zhen-zhen C.
Chin Med Sci J. 2011 Dec;26(4):254-6.
PMID 22218057
 
Trisomy 13 and myeloid malignancy--characteristic blast cell morphology: a United Kingdom Cancer Cytogenetics Group survey.
Mehta AB, Bain BJ, Fitchett M, Shah S, Secker-Walker LM.
Br J Haematol. 1998 Jun;101(4):749-52.
PMID 9674750
 
Trisomy 13: prevalence and clinicopathologic correlates of another potentially lenalidomide-sensitive cytogenetic abnormality.
Mesa RA, Hanson CA, Ketterling RP, Schwager S, Knudson RA, Tefferi A.
Blood. 2009 Jan 29;113(5):1200-1.
PMID 19179475
 
Trisomy 13 correlates with RUNX1 mutation and increased FLT3 expression in AML-M0 patients.
Silva FP, Lind A, Brouwer-Mandema G, Valk PJ, Giphart-Gassler M.
Haematologica. 2007 Aug;92(8):1123-6.
PMID 17650443
 
A new recurring chromosome 13 abnormality in two older patients with de novo acute myeloid leukemia: An Indian experience.
Trivedi PJ, Patel PS, Brahmbhatt MM, Patel BP, Gajjar SB, Dalal EN, Shukla SN, Shah PM, Bakshi SR.
Indian J Hum Genet. 2009 Sep;15(3):137-9.
PMID 21088719
 

Citation

This paper should be referenced as such :
Lee, RE ; Dal, Cin P
+13 or trisomy 13
Atlas Genet Cytogenet Oncol Haematol. 2012;16(8):572-573.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/Tri13ID1033.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+13 or trisomy 13
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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