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t(5;17)(p11;q11)

t(5;17)(q11-12;q11-12)

Written2017-01Adriana Zamecnikova, Soad al Bahar
Kuwait Cancer Control Center, Department of Hematology annaadria@yahoo.com

Abstract Review on t(5;17)(p11;q11) and t(5;17)(q11-12;q11-12), with data on clinics.

Keywords Chromosome 5; chromosome 17; Acute myeloid leukaemia

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Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9874/3 AML with maturation
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1772
 
  Figure 1. (A) Partial karyotypes showing the t(5;17)(p11;q11). (B) Fluorescence in situ hybridization with LSI TP53/CEP17 probe (Vysis, Abott Moleculars, US) showing the chromosome 17 centromere (green) and the p53 gene (red) on der(17) chromosome containing the short arms of chromosomes 5 and 17. (C) Hybridization with LSI CSF1R/D5S23/D5S721 hybridizing on 5p13.2 (green) and 5q33 (red) showing the signal for 5p (green) on der(17) and the signal for 5q33 (red) on der(5) chromosome. (D) Simultaneous hybridization with LSI TP53/CEP17 and LSI CSF1R/D5S23/D5S721 probes demonstrating the presence of TP53/CEP17 and 5p13 signals on der(17) and the 5q33 signal on der(5) chromosome containing the long arm of chromosome 17.

Clinics and Pathology

Disease Acute myeloid leukemia (AML)
Epidemiology Described in 2 male and 3 female patients aged 28 to 70 years; Acute myeloblastic leukemia with maturation (FAB type M2) in 3 (Huebner et al., 2000; Paietta et al., 1988; Arnaud et al., 2005) and AML-NOS in 2 patients (Suciu et al., 1993; Kerndrup and Kjeldsen., 2001) (Table 1).
Table 1. Reported patients with t(5;17)(p11-12-q11;q11-12).
 Sex/Age 
t(5;17)(p11;q11)
1 M/28 AML-M2 43,XY,-5,t(5;17)(p11;q11),-7,add(16),-17,-20
radiotherapy, chemotherapy
t(5;17)(q11-12;q11-12)
2F/61 AML-M246-48,XX,t(5;17)(q12;q12),+8,t(12;19)(q13;q13),-13,-17,+18,+1-3mar
3F/62 AML47,XX,hsr(1)(q32),t(5;17)(q11;q11),+8,+11,t(14;15)(p11;p11),add(19)(p?),+21
4F AML 45,XX,-3,der(5),t(5;17)(q11;q11),+8,del(12),der(12)t(3;12)(p11;q21),-17,+mar/45,XX, -3,der(5),t(5;17),+8,der(10)t(10;11)(q26;?),der(12)t(3;12),-17
5M/70 AML-M246,XY,t(5;17)(q11;q11),-7,+add(11)(q25),+13,del(13)(q31)x2,-16,-17,-18,+2mar, dmin

Abbreviations: M, male; F, female; AML-M2, Acute myeloblastic leukemia with maturation (FAB type M2), AML, Acute myeloid leukemia, NOS.
1. Huebner et al., 2000; 2. Paietta et al., 1988; 3. Suciu et al., 1993; 4. Kerndrup & Kjeldsen., 2001; 5. Arnaud et al., 2005.
Prognosis May represent an unfavorable cytogenetic prognostic category in association with monosomy 7 and/or complex karyotypes.

Cytogenetics

Cytogenetics Morphological Presents as 1 normal chromosome 5 and 17, a der(5) chromosome containing the short arms of chromosomes 5 and 17, and a der(17) chromosome containing the long arms of both chromosomes; breakpoints at or near the centromeres may be uncertain; the most common described translocation was t(5;17)(q11;q11) reported in 3 out of 5 patients. Fluorescence in situ hybridization with centromere-specific probes for chromosomes 5 and 17 allows precise breakpoint definition and confirm the presence of a chromosome centromere and/or the unbalanced dic(5;17) rearrangement.
Additional anomalies Complex chromosome rearrangements in all the 5 described patients, found in association with monosomy 7 in 2 (Huebner et al., 2000; Arnaud et al., 2005) and trisomy 8 in 3 patients (Paietta et al., 1988; Suciu et al., 1993; Kerndrup and Kjeldsen., 2001).

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis The reciprocal, apparently balanced t(5;17)(p11-q11;q11) is a rare but non-random anomaly in acute myeloid leukemia, that may be particularly associated with acute myeloblastic leukemia with maturation (AML-M2). The key mechanism of oncogenesis is unknown; however as it presents in association with known anomalies such as monosomy 7 or trisomy 8 in all the described cases, it is likely that it represents a secondary anomaly that developed during the multistep process of leukemogenesis.
  

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

Myelodysplastic syndrome and acute myelogenous leukemia secondary to heart transplantation.
Huebner G, Karthaus M, Pethig K, Freund M, Ganser A.
Transplantation 2000 Aug 27;70(4):688-90.
 
Acute leukemia cytogenetics: an evaluation of combining G-band karyotyping with multi-color spectral karyotyping.
Kerndrup GB, Kjeldsen E.
Cancer Genet Cytogenet 2001 Jan 1;124(1):7-11.
 
Translocation t(12;19)(q13;q13.3). A new recurrent abnormality in acute nonlymphocytic leukemia with atypical erythropoiesis.
Paietta E, Papenhausen P, Gucalp R, Wiernik PH.
Cancer Genet Cytogenet 1988 Aug;34(1):19-23.
 
Immunophenotype of mitotic cells with clonal chromosome abnormalities demonstrating multilineage involvement in acute myeloid leukemia.
Suciu S, Zeller W, Weh HJ, Hossfeld DK.
Cancer Genet Cytogenet 1993 Oct 1;70(1):1-5.
 

Citation

This paper should be referenced as such :
Zamecnikova A, al Bahar S
t(5;17)(p11;q11); t(5;17)(q11-12;q11-12);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0517p11q11ID1772.html


External links

arrayMapMorph ( 9874/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(5;17)(p11;q11)
REVIEW articlesautomatic search in PubMed
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