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t(6;17)(p21;p13)

Written2018-01Adriana Zamecnikova
Kuwait Cancer Control Center, Kuwait annaadria@yahoo.com

Abstract 6p rearrangements in myeloid malignancies are characterized by heterogeneous breakpoints and chromosome abnormalities that involve various partner chromosomes. Balanced chromosome translocations involving 6p21 are infrequent, among them the t(6;17)(p21;p13 has been observed only in sporadic cases.

Keywords Myeloid malignancies; 6p rearrangements; clonal evolution; t(6;17)(p21;p13).

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Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9873/3 AML without maturation
ICD-Morpho 9874/3 AML with maturation
ICD-Morpho 9869/3
Atlas_Id 1814
 
  Figure 1. Partial karyotypes showing t(6;21)(p21;p13).

Clinics and Pathology

Disease Myeloid malignancies
Phenotype / cell stem origin 1 acute myeloblastic leukemia with maturation (AML-M2) (La Starza et al., 2006), 1 myelodysplastic syndrome (MDS) that terminated in acute myeloid leukemia without maturation (AML-M1) and 1 AML with t(3;3)(q21;q26.2) (present cases, see the Case Reports t(6;17)(p21;p13) associated with t(3;3)(q21;q26.2) in AML and t(6;17)(p21;p13) and acquisition of the Philadelphia chromosome translocation with p190 BCR-ABL1 transcript during the course of myelodysplastic syndrome). Note: an identical anomaly was also detected in 2 patients with aneurysmal bone cysts (Winnepenninckx et al., 2001; Althof et al., 2004).
Epidemiology Only sporadic cases: 2 males aged 47 and 86 years and a 25-years old female.

Genetics

Putative candidate genes at 6p21 include CCND3 at 6p21.1 and MHC complex, NOTCH4, BAK1, FANCE, ETV7, HMGA1, FKBP5 at 6p21.3 (La Starza et al., 2006).

Cytogenetics

Cytogenetics Morphological Found in association with +11 in AML-M2 and with +8 during MDS phase in the present patient in whom progression from MDS to AML was accompanied by an appearance of a new clone, t(9;22)(q34;q11) with the minor p190 BCR/ ABL1 transcript as an additional anomaly to initial chromosome abnormalities. Found in a sideline in AML with t(3;3)(q21;q26.2) and monosomy 7.
 
  Figure 2. Hybridization with SureFISH PAFAH1B1 probe hybridizing to 17p13.3 showing translocation of 17p sequences to der(6) chromosome (green signal) (A). FISH with SureFISH RUNX2 probe located on 6p21.1 revealed signals on normal and der(6) chromosomes (B). Simultaneous hybridization with SureFISH PAFAH1B1 and RUNX2 probes showed normal signal pattern on metaphase without t(6;17)(p21;p13) (C) and cohybridization of PAFAH1B1 and RUNX2 probes on der(6) chromosome (red-green signal) (D).

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis The chromosomal translocation t(6;17)(p21;p13) is a rare anomaly that has been described in myeloid malignancies. Found in association with numerical chromosome anomalies such as +11, +8 and -7, therefore t(6;17)(p21;p13) is probably a secondary anomaly arising from a genetically unstable progenitor cell, acquiring subsequent genetic events. As these trisomies and monosomy 7 are known numerical aberrations in MDS and AML, it is likely that the occurrence of numerical anomalies may be a major pathogenetic event in these patients. Alternatively, it is possible that t(6;17)(p21;p13) was a primary anomaly associated with the early stage of disease that was replaced by a clone containing numerical anomalies during the course of a hematologic malignancy. The acquisition of t(9;22)(q34;q11) to initial anomalies in 1 patient indicates, that the Ph is certainly a secondary event that arose through multiple cytogenetic evolutions, the final event of which was the development of t(9;22)(q34;q11).
  

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.
Case Report t(6;17)(p21;p13) associated with t(3;3)(q21;q26.2) in AML
Case Report t(6;17)(p21;p13) and acquisition of the Philadelphia chromosome translocation with p190 BCR-ABL1 transcript during the course of myelodysplastic syndrome

Bibliography

Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13
Althof PA, Ohmori K, Zhou M, Bailey JM, Bridge RS, Nelson M, Neff JR, Bridge JA
2 by fluorescence in situ hybridization Mod Pathol
PMID 15044915
 
Correlation of the effects of citric acid cycle metabolites on succinate oxidation by rat liver mitochondria and submitochondrial particles
Hillar M, Lott V, Lennox B
J Bioenerg 1975 Mar;7(1):1-16
PMID 1176438
 
Genomic gain at 6p21: a new cryptic molecular rearrangement in secondary myelodysplastic syndrome and acute myeloid leukemia
La Starza R, Aventin A, Matteucci C, Crescenzi B, Romoli S, Testoni N, Pierini V, Ciolli S, Sambani C, Locasciulli A, Di Bona E, Lafage-Pochitaloff M, Martelli MF, Marynen P, Mecucci C
Leukemia 2006 Jun;20(6):958-64
PMID 16617324
 

Citation

This paper should be referenced as such :
Zamecnikova A
t(6;17)(p21;p13);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0617p21p13ID1814.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(6;17)(p21;p13)

External links

Mitelman databaset(6;17)(p21;p13) [Case List]    t(6;17)(p21;p13) [Transloc-MCList]
arrayMap (UZH-SIB Zurich)Morph ( 9873/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9874/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9869/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
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