| Written | 2002-04 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France | ||
| Updated | 2015-06 | Adriana Zamecnikova, Soad Al Bahar |
| Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653, Kuwait |
| Abstract | Review on t(1;19)(p13;p13.1), with data on clinics. |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| 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 | 1230 |
| Clinics and Pathology |
| Disease | Myeloid malignancies. | ||||||||||||||||||||||||||||||||||||
| Epidemiology | Only 5 cases to date.
Table 1. Reported patients with der(1)t(1;19)(p13;p13.1)
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| Clinics | 2 patients with acute myeloid leukemia (AML): a 1 year-old infant with M5a AML (Tchinda et al; 2002) and a 36 year-old male patient with AML-M1 (Ma et al; 2000), one 77-year-old female patient with post-polycythemic myelofibrosis (Suh et al; 2009) and 2 myelodysplastic syndrome (MDS) patients with refractory anemia with ringed sideroblasts (RARS): a 21 year-old female with a suspicion of Fanconi anemia 11 years before diagnosis of RARS (Tchinda et al; 2002) and a 60 year-old female patient (Suh et al; 2009). | ||||||||||||||||||||||||||||||||||||
| Prognosis | Limited data; death occurred 8 months after diagnosis in the case with AML of infant (Tchinda et al; 2002); prognosis may be variable (chronic vs acute disease). |
| Cytogenetics |
| Cytogenetics Morphological | The translocation presents as + der(1) t(1;19)(p13;p13) in all the 5 known cases. |
| Additional anomalies | Sole anomaly in 4 of the 5 cases; complex anomalies in an infant patient with AML-M5a. |
| Genes involved and Proteins |
| Note | The unbalanced rearrangement described as der(1)t(1;19)(p13;p13.1) has rarely been reported, may be found in sporadic cases of patients with myeloid neoplasms such as AML, MDS and polycythemia vera (PV). The possible role of such unbalanced translocation in disease pathogenesis needs to be determined and the genes implicated in this rearrangement still remain unknown. While no gene rearrangements were detected in this translocation, it is possible that ELL, the gene located on chromosome 19p13.1, may be involved in at least some cases. ELL is the MLL partner gene in t(11;19)(q23;p13.1) translocation resulting in MLL-ELL fusion that is found exclusively in patients with myeloid malignancies. Similar to t(11;19)(q23;p13.1), the unbalanced der(1)t(1;19)(p13;p13.1) may constitute a specific entity in myeloid neoplasms, occurring mainly in adults. |
| 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 |
| Hand-mirror blasts, AML-M1, and der(1)t(1;19)-(p13;p13.1). |
| Ma SK, Wan TS, Chan LC, Chiu EK. |
| Leuk Res 2000;24:95-96. |
| PMID 10634654 |
| der(1)t(1;19)(p13;p13.1) in two elderly patients with myeloid neoplasms: new case reports and review of the literature. |
| Suh B, Park TS, Song J, Lee ST, Kim SJ, Lee HW, Choi JR. |
| Leuk Res 2009 Aug;33(8):e128-31. doi: 10.1016/j.leukres.2009.02.014. Epub 2009 Apr 3. |
| PMID 19345416 |
| Novel der(1)t(1;19) in two patients with myeloid neoplasias. |
| Tchinda J, Volpert S, Neumann T, Kennerknecht I, Ritter J, B?chner T, Berdel WE, Horst J |
| Cancer genetics and cytogenetics. 2002 ; 133 (1) : 61-65. |
| PMID 11890991 |
| Citation |
| This paper should be referenced as such : |
| Adriana Zamecnikova, Soad Al Bahar |
| t(1;19)(p13;p13.1) |
| Atlas Genet Cytogenet Oncol Haematol. 2016;20(7):429-430. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0119p13p13ID1230.html |
| History of this paper: |
| Huret, JL. t(1;19)(p13;p13.1). Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):212-212. |
| http://documents.irevues.inist.fr/bitstream/handle/2042/37873/04-2002-t0119p13p13ID1230.pdf |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(1;19)(p13;p13) | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Aug 28 18:16:33 CEST 2018 |
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