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Case Report Open Access

Acute promyelocytic leukemia with a cryptic insertion of RARA into PML on chromosome 15 due to uniparental isodisomy: A case report

  • Authors:
    • Anna Venci
    • Rita Mazza
    • Orietta Spinelli
    • Luciana Di Schiena
    • Daniela Bettio
  • View Affiliations / Copyright

    Affiliations: Cytogenetic and Medical Genetic Laboratory, Operative Unit of Clinical Investigations, Humanitas Clinical and Research Center, I‑20089 Milan, Italy, Operative Unit of Medical Oncology and Hematology, Humanitas Clinical and Research Center, I‑20089 Milan, Italy, Hematology and Bone Marrow Transplant Unit, Azienda Ospedaliera Papa Giovanni XXIII, I‑24127 Bergamo, Italy
    Copyright: © Venci et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 4180-4184
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    Published online on: April 3, 2017
       https://doi.org/10.3892/ol.2017.5979
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Abstract

Acute promyelocytic leukemia is a myeloid disorder that is characterized by the specific t(15;17) variant in ~98% of cases. The typical hypergranular and microgranular or hypogranular types exist, and are frequently associated with disseminated intravascular coagulopathy. Rare cases of promyelocytic leukemia‑retinoic acid receptor α (PML‑RARA) fusion without the reciprocal RARA-PML have been reported in cytogenetically normal samples. Conversely, fluorescence in situ hybridization (FISH) analysis has revealed a cryptic insertion of the RARA gene into the PML gene on chromosome 15. The current study reports a unique case with a normal karyotype and molecular evidence of the PML‑RARA short isoform 3‑fusion transcript, with FISH analysis revealing two fusion signals on the two copies of chromosome 15, but absence of the reciprocal on the two copies of chromosome 17. This finding raised the hypothesis of chromosome 15 uniparental isodysomy as consequence of normal chromosome 15 loss and duplication of the rearranged chromosome, as supported by polymorphic loci molecular analysis. The clinical, cytogenetic and molecular characterization of this case are presented and discussed in the present study.
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Copy and paste a formatted citation
Spandidos Publications style
Venci A, Mazza R, Spinelli O, Di Schiena L and Bettio D: Acute promyelocytic leukemia with a cryptic insertion of RARA into PML on chromosome 15 due to uniparental isodisomy: A case report. Oncol Lett 13: 4180-4184, 2017.
APA
Venci, A., Mazza, R., Spinelli, O., Di Schiena, L., & Bettio, D. (2017). Acute promyelocytic leukemia with a cryptic insertion of RARA into PML on chromosome 15 due to uniparental isodisomy: A case report. Oncology Letters, 13, 4180-4184. https://doi.org/10.3892/ol.2017.5979
MLA
Venci, A., Mazza, R., Spinelli, O., Di Schiena, L., Bettio, D."Acute promyelocytic leukemia with a cryptic insertion of RARA into PML on chromosome 15 due to uniparental isodisomy: A case report". Oncology Letters 13.6 (2017): 4180-4184.
Chicago
Venci, A., Mazza, R., Spinelli, O., Di Schiena, L., Bettio, D."Acute promyelocytic leukemia with a cryptic insertion of RARA into PML on chromosome 15 due to uniparental isodisomy: A case report". Oncology Letters 13, no. 6 (2017): 4180-4184. https://doi.org/10.3892/ol.2017.5979
Copy and paste a formatted citation
x
Spandidos Publications style
Venci A, Mazza R, Spinelli O, Di Schiena L and Bettio D: Acute promyelocytic leukemia with a cryptic insertion of RARA into PML on chromosome 15 due to uniparental isodisomy: A case report. Oncol Lett 13: 4180-4184, 2017.
APA
Venci, A., Mazza, R., Spinelli, O., Di Schiena, L., & Bettio, D. (2017). Acute promyelocytic leukemia with a cryptic insertion of RARA into PML on chromosome 15 due to uniparental isodisomy: A case report. Oncology Letters, 13, 4180-4184. https://doi.org/10.3892/ol.2017.5979
MLA
Venci, A., Mazza, R., Spinelli, O., Di Schiena, L., Bettio, D."Acute promyelocytic leukemia with a cryptic insertion of RARA into PML on chromosome 15 due to uniparental isodisomy: A case report". Oncology Letters 13.6 (2017): 4180-4184.
Chicago
Venci, A., Mazza, R., Spinelli, O., Di Schiena, L., Bettio, D."Acute promyelocytic leukemia with a cryptic insertion of RARA into PML on chromosome 15 due to uniparental isodisomy: A case report". Oncology Letters 13, no. 6 (2017): 4180-4184. https://doi.org/10.3892/ol.2017.5979
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