Identification of A Novel inv(2)(p13;q14) in Essential Thrombocythemia Volume 5 - Issue 1

Pier Paolo Piccaluga^1-4*, Serah Kaggia³, Emily Rogena³, Nicholas A Abinya⁴, Shaymaa Khattab⁵, Ashraf Elghandour⁵, Manal Elsorady⁵, Nicoletta Testoni¹, Giuseppe Visani⁶

• ¹Department of Experimental, Diagnostic, and Specialty Medicine, University of Bologna School of Medicine, Institute of Hematology and Medical Oncology “L. and A. Seràgnoli”, Italy
• ²Istituto Euro-Mediterraneo di Scienza e Tecnologia (IEMEST) Palermo, Italy
• ³Department of Pathology, School of Medicine, Jomo Kenyatta University of Agriculture and Technology, Juja, Kenya
• ⁴Nairobi Hospital and University of Nairobi, Nairobi, Kenya
• ⁵Hematology Unit, internal medicine department, Faculty of Medicine, Alexandria University, Egypt
• ⁶Hematology and Stem Cell Transplantation, AORMIN, Pesaro, Italy

Received: November 11, 2021   Published: December 2, 2021

Corresponding author: Pier Paolo Piccaluga, Department of Experimental, Diagnostic, and Specialty Medicine University of Bologna, Italy; Institute of Hematology and Medical Oncology “L&A Seràgnoli”, Via Massarenti, 9 -40138 Bologna, Italy

DOI: 10.32474/OAJOM.2021.05.000205

Abstract PDF

A 69-year-old man came at our observation for thrombocytosis. Peripheral blood counts showed: PLT, 805x109/L; hemoglobin 14.4 g/dl; WBC, 7x109/L (with 58% neutrophils, 27% lymphocytes, 12% monocytes, 2% eosinophils, and 1% basophils). Bone marrow examination at trephine biopsy showed a hypercellular marrow with an obvious megakaryocytopoiesis increase (Figure 1). Some of the megakaryocytes were small, with a reduced ploidy. The karyotype, assessed as previously described [8,9] showed an isolated inv(2)(p13;q14). The patient did not record any previous thrombosis or hemorrhage. Clinically, the disease remained stable, the PLT count being 750 x109/L, at the time of writing after 6 years of hydroxyurea treatment, at the daily dosage of 1000 mg p.o. No thrombotic or hemorrhagic event was reported during the follow-up. Some episodes of tinnitus were retailed after a period of 11 months since the date of diagnosis. This is the first time, to the best of our knowledge, that inv(2)(p13;q14) was recorded in ET. In anaplastic large cell lymphomas (ALCL) is rarely observed the inv(2)(p23q35). It involves ALK and ATIC genes, and the fusion protein has a cytoplasmic localization [10]. No other genetic aberrations involving the same chromosomal region are reported in hematological malignancies. Interestingly, however, the loci 2p13 and 2q14 do contain genes known to be involved in the pathogenesis of human cancer, such as MERTK (c-mer proto-oncogene tyrosine kinase), TGFA (transforming growth factor alpha), IL1A (interleukin-1 alpha), and, intriguingly, IL1B (interleukin-1 beta), known to enhance the megaryocyte proliferation in vitro [11]. In conclusion, though we cannot exclude that inv(2) was not strictly related to the neoplastic clone, we hypothesize that the herein described aberration is a newly acquired chromosomal abnormality in ET. Further studies are warranted to better define the exact prevalence and to definitively characterize the phenotypic and molecular features associated with this chromosomal aberration.

Figure 1: Bone marrow trephine biopsy. A) Hypercellular bone marrow with regular erythropoiesis and granulopoiesis. B) Megakaryocytes are increased in number and mature, with some evidence of dystrophy, and reduced size/ploidy (arrows).

Acknowledgment: This work was supported by AIL-Pesaro Onlus (Dr. Visani), BolognAIL (2020, Prof. Piccaluga), RFO DIMES (2018, Prof. Piccaluga), FIRB Futura 2011 RBFR12D1CB (Prof. Piccaluga).

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