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01.12.2018 | Case report | Ausgabe 1/2018 Open Access

BMC Cancer 1/2018

First case of AML with rare chromosome translocations: a case report of twins

Zeitschrift:
BMC Cancer > Ausgabe 1/2018
Autoren:
Lin Wang, Yanhua Sun, Yanli Sun, Lingbin Meng, Xin Xu
Wichtige Hinweise

Electronic supplementary material

The online version of this article (https://​doi.​org/​10.​1186/​s12885-018-4396-4) contains supplementary material, which is available to authorized users.

Abstract

Background

Leukemia is different from solid tumor by harboring genetic rearrangements that predict prognosis and guide treatment strategy. PML-RARA, RUNX1-RUNX1T1, and KMT2A-rearrangement are common genetic rearrangements that drive the development of acute myeloid leukemia (AML). By contrast, rare genetic rearrangements may also contribute to leukemogenesis but are less summarized.

Case presentation

Here we reported rare fusion genes ZNF717-ZNF37A, ZNF273-DGKA, and ZDHHC2-TTTY15 in a 47-year-old AML-M4 patient with FLT3 internal tandem duplication (ITD) discovered by whole genome sequencing (WGS) using the patient’s healthy sibling as a sequencing control.

Conclusion

This is, to our knowledge, the first case of AML with fusion gene ZNF717-ZNF37A, ZNF273-DGKA, and ZDHHC2-TTTY15.
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