The advent of retinoic acid (RA) in the treatment of acute promyelocytic leukemia (APL) has led to a high frequency of short-lasting complete remissions (CR). We studied the response to RA by molecularly analyzing the RA receptor a (RARa) locus, which has recently been shown to be rearranged in all APLs. Southern blot analysis demonstrated that the RARa rearrangements persisted in the APL sampl...

The PML-RAR alpha fusion protein is central to the pathogenesis of acute promyelocytic leukemia (APL). Expression of this protein in transgenic mice initiates myeloid leukemias with features of human APL, but only after a long latency (8.5 months in MRP8 PML-RARA mice). Thus, additional changes contribute to leukemic transformation. Activating mutations of the FLT3 receptor tyrosine kinase are ...

Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), which results in the fusion of the promyelocytic leukemia (PML) gene at 15q22 with the retinoic acid α-receptor (RARA) gene at 17q21. The current study presents the case of a 54-year-old female with APL carrying the atypical PML/RARA fusion signal due to a novel complex variant translocation t(15;16;17)(q22;q24;q21), ...

In only few decades, remarkable advances in biology and therapy have transformed acute promyelocytic leukemia (APL), once regarded as the most rapidly fatal human leukemia, into a paradigm of targeted treatment in human cancer, with most patients being nowadays curable without any or with only small amounts of conventional chemotherapy. Yet, the management of this rare subtype of leukemia remai...

background: the secondary genetic changes other than the promyelocytic leukemia-retinoic acid receptor (pml-rara) fusion gene may contribute to the acute promyelocytic leukemogenesis. chromosomal alterations and mutation of flt3 (fms-like tyrosine kinase 3) tyrosine kinase receptor are the frequent genetic alterations in acute myeloid leukemia. however, the prognostic significance of flt3 mutat...

Treatment of acute promyelocytic leukemia (APL) with all-trans retinoic acid and/or arsenic trioxide represents a paradigm in targeted cancer therapy because these drugs cause clinical remission by affecting the stability of the fusion oncoprotein promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARA). The authors of previous studies have implicated the ubiquitin-proteasome pathway as...

Treatment of acute promyelocytic leukemia (APL) with all-trans retinoic acid and/or arsenic trioxide represents a paradigm in targeted cancer therapy because these drugs cause clinical remission by affecting the stability of the fusion oncoprotein promyelocytic leukemia (PML)/ retinoic acid receptor alpha (RARA). The authors of previous studies have implicated the ubiquitin-proteasome pathway a...

A case of acute promyelocytic leukemia (APL) with RUNX1T1 insertion to 7q is described and compared to reported cases of APL with negative retinoic acid receptor alpha (RARA) abnormality. In this report, we describe the case of a 2-year-old boy who presented with bone pain and was found to have pancytopenia. Bone marrow examination showed morphologic and immunophenotypic findings typical of APL...

Approximately 600–800 new cases of acute promyelocytic leukemia (APL) occur annually in the United States. The advent of all-trans retinoic acid (ATRA) has converted this subtype of acute leukemia to a readily curable one with excellent long-term outcomes. Rapid diagnosis and immediate treatment is crucial in APL and a requirement for favorable prognosis. t(15;17)(q24;q21) is the characteristic...

The V617F mutation of Janus-associated kinase 2 (JAK2) is commonly seen in myeloproliferative neoplasms (MPN). Transformation of JAK2 positive MPNs to acute leukemia has been reported. We here report a case of acute promyelocytic leukemia which was later confirmed to have a co-existing JAK2 V617F positive MPN. In addition, the patient was found to have FLT3-TKD mutation, which, together with PM...