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Hematology Reports
Volume 13
Issue 2
10.4081/hr.2021.8814
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Hematology Reports is published by MDPI from Volume 14 Issue 1 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

The Diagnostic Role of Next Generation Sequencing in Uncovering Isolated Splenomegaly: A Case Report

by
Giuseppe Auteri
1,*,
Daniela Bartoletti
1,
Clara Bertuzzi
2,
Francesco Bacci
2,
Valeria Tonini
3,
Lucia Catani
1,
Nicola Vianelli
1,
Michele Cavo
1 and
Francesca Palandri
1
1
Department of Experimental Medicine, Istituto di Ematologia "Seràgnoli", IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Via Giuseppe Massarenti, 9, 40138 Bologna, Italy
2
Hematopathology Unit, Sant’Orsola-Malpighi University Hospital, Bologna, Italy
3
Emergency Surgery Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy
*
Author to whom correspondence should be addressed.
Hematol. Rep. 2021, 13(2), 8814; https://doi.org/10.4081/hr.2021.8814
Submission received: 27 July 2020 / Revised: 12 January 2021 / Accepted: 1 February 2021 / Published: 21 June 2021

Abstract

Many diseases can induce splenomegaly, however, about 5% of splenomegalies are idiopathic. When there is no underlying treatable cause, and the splenomegaly significantly affects the quality of life, splenectomy is the best therapeutic choice. A 67-year-old woman had idiopathic and asymptomatic splenomegaly. The increase in splenomegaly resulted in hypersplenism with cytopenia and symptoms related to abdominal discomfort. The patient underwent splenectomy which led to clinical improvement. A histological examination showed the presence of hematopoietic tissue. Peripheral blood Next Generation Sequencing with the myeloid panel SOPHiA Genetics showed the following mutations: ASXL1, SRSF2, KRAS and TET2. Three out of these four mutations were also found in the splenic tissue. Next Generation Sequencing could be useful in the diagnosis of splenomegalies associated with myeloproliferative neoplasms otherwise defined as idiopathic, in order to address a therapeutic strategy.
Keywords: splenomegaly; Next Generation Sequencing; myeloproliferative neoplasms splenomegaly; Next Generation Sequencing; myeloproliferative neoplasms

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MDPI and ACS Style

Auteri, G.; Bartoletti, D.; Bertuzzi, C.; Bacci, F.; Tonini, V.; Catani, L.; Vianelli, N.; Cavo, M.; Palandri, F. The Diagnostic Role of Next Generation Sequencing in Uncovering Isolated Splenomegaly: A Case Report. Hematol. Rep. 2021, 13, 8814. https://doi.org/10.4081/hr.2021.8814

AMA Style

Auteri G, Bartoletti D, Bertuzzi C, Bacci F, Tonini V, Catani L, Vianelli N, Cavo M, Palandri F. The Diagnostic Role of Next Generation Sequencing in Uncovering Isolated Splenomegaly: A Case Report. Hematology Reports. 2021; 13(2):8814. https://doi.org/10.4081/hr.2021.8814

Chicago/Turabian Style

Auteri, Giuseppe, Daniela Bartoletti, Clara Bertuzzi, Francesco Bacci, Valeria Tonini, Lucia Catani, Nicola Vianelli, Michele Cavo, and Francesca Palandri. 2021. "The Diagnostic Role of Next Generation Sequencing in Uncovering Isolated Splenomegaly: A Case Report" Hematology Reports 13, no. 2: 8814. https://doi.org/10.4081/hr.2021.8814

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