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Case Reports
. 2024 Jun 12;16(2):367-374.
doi: 10.3390/hematolrep16020037.

Three-Way Translocation t(12;15;17) (p13;q24;q21) Found in Acute Promyelocytic Leukemia with Basophilic Differentiation

Sara Frazzetto  1   2 , Lara Gullo  1   2 , Gabriele Sapuppo  1   2 , Manlio Fazio  1   2 , Cristina Lo Faro  1   2 , Giuliana Giunta  1   2 , Ignazio Caravotta  1   2 , Elisa Mauro  1 , Marina Silvia Parisi  1 , Anna Maria Triolo  1 , Nunziatina Laura Parrinello  1 , Maria Letizia Consoli  1 , Loredana També  1 , Daniela Cambria  1 , Sara Marino  1 , Grazia Scuderi  1 , Francesco Di Raimondo  1   2
Affiliations
Case Reports

Three-Way Translocation t(12;15;17) (p13;q24;q21) Found in Acute Promyelocytic Leukemia with Basophilic Differentiation

Sara Frazzetto et al. Hematol Rep. .

Abstract

Acute promyelocytic leukemia is a rare form of acute myeloid leukemia in which immature promyelocytes abnormally proliferate in the bone marrow. In most cases, the disease is characterised by the translocation t(15;17) (q24;q21), which causes the formation of PML::RARA, an oncogenic fusion protein responsible for blocking myeloid differentiation and survival advantage. Here, we present a case of acute promyelocytic leukemia with two unusual features: basophilic differentiation and a three-way translocation involving chromosomes 12, 15 and 17. In the few cases reported, basophilic differentiation was associated with a poor prognosis. In contrast, our patient responded promptly to the standard treatment with all-trans-retinoic acid (ATRA) and arsenic trioxide (ATO) and obtained complete remission. To our knowledge, this is the first report of basophilic acute promyelocytic leukemia with the three-way translocation t(12;17;15) (p13; q24;q21).

Keywords: acute myeloid leukemia; acute promyelocytic leukemia; basophils; cytogenetic; translocation; treatment.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Smear observation of bone marrow aspirates: the cytoplasm of these large cellular elements is characterised by the presence of many basophilic granules (arrow pointed). The line between nucleus and cytoplasm is not well marked. These coarse, dark blu/purple granules totally obscure the nucleus (a) or are scattered outside the cells after degranulation (b).
Figure 2
Figure 2
Karyotype of the patient with a translocation t(12;15;17) (p13; q24;q21).
Figure 3
Figure 3
Skin rash (a) and urticarial-like skin lesions (b).
Figure 4
Figure 4
Differentiation syndrome. Submandibular swelling and lymphoadenopathy after 3 days of ATO+ATRA treatment (a) and after 6 days (b).
See this image and copyright information in PMC

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