A case of acute myeloid leukemia with promyelocytic features characterized by expression of a novel RARG-CPSF6 fusion

Miller, Christopher A.; Tricarico, Christopher; Skidmore, Zachary L.; Uy, Geoffrey L.; Lee, Yi-Shan; Hassan, Anjum; O’Laughlin, Michelle; Schmidt, Heather; Tian, Ling; Duncavage, Eric J.; Griffith, Malachi; Welch, John S.; Wartman, Lukas D.

doi:10.1182/bloodadvances.2017014183

Cited by 29 publications

(30 citation statements)

References 19 publications

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“…Wright-Giemsa staining A drop of blood from tail vein was used for blood smear, and femur was cut in half by razor blade for bone marrow touch preparation. After air drying, slides were stained with Wright-Giemsa stain and differential cell types counted at ×1000 magnification (56).…”

Section: Subject Recruitment and Descriptionmentioning

confidence: 99%

G-CSF partially mediates effects of sleeve gastrectomy on the bone marrow niche

Li¹,

Hardij²,

Evers³

et al. 2019

Journal of Clinical Investigation

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Section: Subject Recruitment and Descriptionmentioning

confidence: 99%

G-CSF partially mediates effects of sleeve gastrectomy on the bone marrow niche

Li¹,

Hardij²,

Evers³

et al. 2019

Journal of Clinical Investigation

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“…With the application of secondgeneration sequencing technology in the clinical diagnosis, four patients were reported with CPSF6-RARG, and one with RARG-CPSF6. [6][7][8][9] All of the patients were morphologically diagnosed with APL, suggesting that their disease had a similar pathogenesis to that of APL. However, none of the patients with CPSF6-RARG or RARG-CPSF6 experienced a response to ATRA and ATO, suggesting that it is a novel subtype of AML.…”

mentioning

confidence: 99%

Acute myeloid leukemia with a novel CPSF6‐RARG variant is sensitive to homoharringtonine and cytarabine chemotherapy

et al. 2019

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of detection) did not identify an aberrant clonal plasma cell population in this patient.We conclude that for select patients with clinical features of systemic AL amyloidosis (ie, heart failure with preserved ejection fraction, proteinuria, unexplained hepatomegaly, and axonal demyelinating peripheral neuropathy), the absence of monoclonal gammopathy should not deter aspiration of subcutaneous fat and/or tissue biopsy of the affected organ. Only histopathological analysis for Congophilia and accurate precursor protein typing can lead to diagnosis in some cases. Moreover, it is important to distinguish these systemic cases from localized AL amyloidosis, which does not require systemic chemotherapy.The authors declare no competing conflicts of interest. AUTHOR CONTRIBUTIONSAS collected and analyzed data, and wrote the manuscript in consultation with YK, DJM and JMS; VS edited and revised the final version.

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“…Additional RARA fusion partners have also been described, although these occur with less frequency-the promyelocytic leukemia zinc finger (PLZF), nuclear mitotic apparatus (NUMA), and the signal transducer and activator of transcription 5b (STAT5B) or nucleophosmin 1 (NPM1) are the most common of these alternative partners [88]. Rare cases of RARG fusions have also been described with promyelocytic morphology [89]. The balanced translocation of t(15;17);t(17;15) is associated with the expression of a reciprocal fusion product (RARA-PML), and is accompanied by haploinsufficiency for both PML and RARA [90,91].…”

Section: Retinoid Therapy In Acute Promyelocytic Leukemiamentioning

confidence: 99%

Retinoic Acid Receptors in Acute Myeloid Leukemia Therapy

Martino

Welch

2019

Cancers

Self Cite

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Retinoic acid (RA) signaling pathways regulate fundamental biological processes, such as cell proliferation, development, differentiation, and apoptosis. Retinoid receptors (RARs and RXRs) are ligand-dependent transcription factors. All-trans retinoic acid (ATRA) is the principal endogenous ligand for the retinoic acid receptor alpha (RARA) and is produced by the enzymatic oxidation of dietary vitamin A, whose deficiency is associated with several pathological conditions. Differentiation therapy using ATRA revolutionized the outcome of acute promyelocytic leukemia (APL), although attempts to replicate these results in other cancer types have been met with more modest results. A better knowledge of RA signaling in different leukemia contexts is required to improve initial designs. Here, we will review the RA signaling pathway in normal and malignant hematopoiesis, and will discuss the advantages and the limitations related to retinoid therapy in acute myeloid leukemia.

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A case of acute myeloid leukemia with promyelocytic features characterized by expression of a novel RARG-CPSF6 fusion

Abstract: Key Points Novel RARG-CPSF6 fusion in an AML case with promyelocytic features and no evidence of PML-RARA or X-RARA fusion. Gene fusions involving RARG can initiate AML with promyelocytic morphological features.

Cited by 29 publications

References 19 publications

G-CSF partially mediates effects of sleeve gastrectomy on the bone marrow niche

G-CSF partially mediates effects of sleeve gastrectomy on the bone marrow niche

Acute myeloid leukemia with a novel CPSF6‐RARG variant is sensitive to homoharringtonine and cytarabine chemotherapy

Retinoic Acid Receptors in Acute Myeloid Leukemia Therapy

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