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Acute Myeloid Leukemia with a Variant RARA Rearrangement

MedGen UID:: 442905
•Concept ID:: C2825128
•: Neoplastic Process

Synonyms:

Acute Myeloid Leukemia with a Variant RARA Translocation; Acute Promyelocytic Leukemia with Other RARA Rearrangements

Definition

A term referring to acute myeloid leukemias which show variant translocations involving the RARA gene. The variant fusion partners include NUMA1, ZBTB16, STAT5B, and NPM1. These leukemias often have the morphologic features of acute promyelocytic leukemia. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAcute Myeloid Leukemia with a Variant RARA Rearrangement

Hematologic disorder
- Hematologic neoplasm
  - Leukemia
    - Acute leukemia
      - Acute myeloid leukemia
        Acute myeloid leukemia with recurrent genetic anomaly
        Acute Myeloid Leukemia with a Variant RARA Rearrangement
        Acute Myeloid Leukemia with t(11;17)(q13;q21); NUMA1-RARA
        Acute Myeloid Leukemia with t(11;17)(q23;q21); ZBTB16-RARA
        Acute Myeloid Leukemia with t(5;17)(q35;q21); NPM1-RARA

Recent clinical studies

Etiology

The genetics and clinical characteristics of children morphologically diagnosed as acute promyelocytic leukemia.

Zhao J, Liang JW, Xue HL, Shen SH, Chen J, Tang YJ, Yu LS, Liang HH, Gu LJ, Tang JY, Li BS
Leukemia 2019 Jun;33(6):1387-1399. Epub 2018 Dec 21 doi: 10.1038/s41375-018-0338-z. PMID: 30575821

Expression of T-lineage-affiliated transcripts and TCR rearrangements in acute promyelocytic leukemia: implications for the cellular target of t(15;17).

Chapiro E, Delabesse E, Asnafi V, Millien C, Davi F, Nugent E, Beldjord K, Haferlach T, Grimwade D, Macintyre EA
Blood 2006 Nov 15;108(10):3484-93. Epub 2006 Jul 20 doi: 10.1182/blood-2005-09-009977. PMID: 16857994

Fluorescence in situ hybridization: a highly efficient technique of molecular diagnosis and predication for disease course in patients with myeloid leukemias.

Amare PS, Baisane C, Saikia T, Nair R, Gawade H, Advani S
Cancer Genet Cytogenet 2001 Dec;131(2):125-34. doi: 10.1016/s0165-4608(01)00504-0. PMID: 11750052

Clinical relevance of the PML/RAR-a gene rearrangement in acute promyelocytic leukaemia.

Lo Coco F, Pelicci PG, Biondi A
Leuk Lymphoma 1994 Feb;12(5-6):327-32. doi: 10.3109/10428199409073773. PMID: 8180596

Problems existing in differentiation therapy of acute promyelocytic leukemia (APL) with all-trans retinoic acid (ATRA).

Wang ZY, Chen Z, Huang W, Li XS, Lu JX, Huang LA, Zhang FQ, Gu LJ, Ouyang RR, Chen SJ
Blood Cells 1993;19(3):633-41; discussion 642-7. PMID: 8018944

See all (5)

Diagnosis

Acute Promyelocytic Leukemia With Torque Teno Mini Virus::RARA Fusion: An Approach to Screening and Diagnosis.

Tsai HK, Sabbagh MF, Montesion M, Williams EA, Arbini A, Boué DR, Harris EM, Wachter F, Grimmett L, Place AE, Lucas F, Nardi V, Kim AS, Brugnara C, Degar B, Pollard J, Harris MH, Bledsoe JR
Mod Pathol 2024 Jul;37(7):100509. Epub 2024 May 3 doi: 10.1016/j.modpat.2024.100509. PMID: 38704030

Clinical and genomic characterization of an ATRA-insensitive acute promyelocytic leukemia variant with a FNDC3B::RARB fusion.

Kirkham JK, Liu YC, Foy SG, Ma J, Gheorghe G, Furtado LV, Popescu MI, Klco JM, Karol SE, Blackburn PR
Genes Chromosomes Cancer 2023 Oct;62(10):617-623. Epub 2023 Jun 7 doi: 10.1002/gcc.23180. PMID: 37283355

Monocytic Acute Myeloid Leukemias with KM2TA Translocations to Chromosome 17q that May Clinically Mimic Acute Promyelocytic Leukemia.

Balbuena-Merle RI, Tormey CA, DiAdamo A, Rinder HM, Siddon AJ
Lab Med 2021 May 4;52(3):290-296. doi: 10.1093/labmed/lmaa078. PMID: 32984885

The genetics and clinical characteristics of children morphologically diagnosed as acute promyelocytic leukemia.

Zhao J, Liang JW, Xue HL, Shen SH, Chen J, Tang YJ, Yu LS, Liang HH, Gu LJ, Tang JY, Li BS
Leukemia 2019 Jun;33(6):1387-1399. Epub 2018 Dec 21 doi: 10.1038/s41375-018-0338-z. PMID: 30575821

Variant and masked translocations in acute promyelocytic leukemia.

Brunel V, Lafage-Pochitaloff M, Alcalay M, Pelicci PG, Birg F
Leuk Lymphoma 1996 Jul;22(3-4):221-8. doi: 10.3109/10428199609051752. PMID: 8819070

See all (26)

Therapy

Clinical and genomic characterization of an ATRA-insensitive acute promyelocytic leukemia variant with a FNDC3B::RARB fusion.

Acute Promyelocytic Leukemia with Rare Genetic Aberrations: A Report of Three Cases.

Liu G, Liu L, Bartolo DD, Li KY, Li X
Genes (Basel) 2022 Dec 23;14(1) doi: 10.3390/genes14010046. PMID: 36672788 Free PMC Article

Characterization of a rarely reported STAT5B/RARA gene fusion in a young adult with newly diagnosed acute promyelocytic leukemia with resistance to ATRA therapy.

Peterson JF, He RR, Nayer H, Cuevo RS, Smadbeck JB, Vasmatzis G, Greipp PT, Ketterling RP, Hoppman NL, Baughn LB
Cancer Genet 2019 Sep;237:51-54. Epub 2019 Jun 12 doi: 10.1016/j.cancergen.2019.06.007. PMID: 31447065

The genetics and clinical characteristics of children morphologically diagnosed as acute promyelocytic leukemia.

Zhao J, Liang JW, Xue HL, Shen SH, Chen J, Tang YJ, Yu LS, Liang HH, Gu LJ, Tang JY, Li BS
Leukemia 2019 Jun;33(6):1387-1399. Epub 2018 Dec 21 doi: 10.1038/s41375-018-0338-z. PMID: 30575821

Characterisation of the PML/RAR alpha rearrangement associated with t(15;17) acute promyelocytic leukaemia.

Grimwade D, Solomon E
Curr Top Microbiol Immunol 1997;220:81-112. doi: 10.1007/978-3-642-60479-9_6. PMID: 9103677

See all (13)

Prognosis

Acute Promyelocytic Leukemia with Rare Genetic Aberrations: A Report of Three Cases.

Liu G, Liu L, Bartolo DD, Li KY, Li X
Genes (Basel) 2022 Dec 23;14(1) doi: 10.3390/genes14010046. PMID: 36672788 Free PMC Article

Monocytic Acute Myeloid Leukemias with KM2TA Translocations to Chromosome 17q that May Clinically Mimic Acute Promyelocytic Leukemia.

Balbuena-Merle RI, Tormey CA, DiAdamo A, Rinder HM, Siddon AJ
Lab Med 2021 May 4;52(3):290-296. doi: 10.1093/labmed/lmaa078. PMID: 32984885

The genetics and clinical characteristics of children morphologically diagnosed as acute promyelocytic leukemia.

Zhao J, Liang JW, Xue HL, Shen SH, Chen J, Tang YJ, Yu LS, Liang HH, Gu LJ, Tang JY, Li BS
Leukemia 2019 Jun;33(6):1387-1399. Epub 2018 Dec 21 doi: 10.1038/s41375-018-0338-z. PMID: 30575821

Complex variant 15;17 translocations in acute promyelocytic leukemia. A case report and review of three-way translocations.

Wan TS, Chim CS, So CK, Chan LC, Ma SK
Cancer Genet Cytogenet 1999 Jun;111(2):139-43. doi: 10.1016/s0165-4608(98)00230-1. PMID: 10347551

Clinical relevance of the PML/RAR-a gene rearrangement in acute promyelocytic leukaemia.

Lo Coco F, Pelicci PG, Biondi A
Leuk Lymphoma 1994 Feb;12(5-6):327-32. doi: 10.3109/10428199409073773. PMID: 8180596

See all (14)

Clinical prediction guides

Clinical and genomic characterization of an ATRA-insensitive acute promyelocytic leukemia variant with a FNDC3B::RARB fusion.

CDKN1B, encoding the cyclin-dependent kinase inhibitor 1B (p27), is located in the minimally deleted region of 12p abnormalities in myeloid malignancies and its low expression is a favorable prognostic marker in acute myeloid leukemia.

Haferlach C, Bacher U, Kohlmann A, Schindela S, Alpermann T, Kern W, Schnittger S, Haferlach T
Haematologica 2011 Jun;96(6):829-36. Epub 2011 Mar 21 doi: 10.3324/haematol.2010.035584. PMID: 21422114 Free PMC Article

Complex variant 15;17 translocations in acute promyelocytic leukemia. A case report and review of three-way translocations.

Wan TS, Chim CS, So CK, Chan LC, Ma SK
Cancer Genet Cytogenet 1999 Jun;111(2):139-43. doi: 10.1016/s0165-4608(98)00230-1. PMID: 10347551

Acute myeloid leukemias M2 potentially misdiagnosed as M3 variant French-American-Britain (FAB) subtype: a transitional form?

Fenu S, Carmini D, Mancini F, Guglielmi C, Alimena G, Riccioni R, Barsotti P, Mancini M, Avvisati G, Mandelli F
Leuk Lymphoma 1995;18 Suppl 1:49-55. doi: 10.3109/10428199509075303. PMID: 7496355

Clinical relevance of the PML/RAR-a gene rearrangement in acute promyelocytic leukaemia.

Lo Coco F, Pelicci PG, Biondi A
Leuk Lymphoma 1994 Feb;12(5-6):327-32. doi: 10.3109/10428199409073773. PMID: 8180596

See all (12)

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Acute Myeloid Leukemia with a Variant RARA Rearrangement

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Practice guidelines

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