The diagnostic role of Next Generation Sequencing in uncovering isolated splenomegaly: A case report

  • Giuseppe Auteri | giuseppe.auteri2@unibo.it IRCCS Azienda Ospedaliero- Universitaria di Bologna, Istituto di Ematologia "Seràgnoli", Bologna, Italy.
  • Daniela Bartoletti IRCCS Azienda Ospedaliero- Universitaria di Bologna, Istituto di Ematologia "Seràgnoli", Bologna, Italy.
  • Clara Bertuzzi Hematopathology Unit, Sant’Orsola-Malpighi University Hospital, Bologna, Italy.
  • Francesco Bacci Hematopathology Unit, Sant’Orsola-Malpighi University Hospital, Bologna, Italy.
  • Valeria Tonini Emergency Surgery Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy, Italy.
  • Lucia Catani IRCCS Azienda Ospedaliero- Universitaria di Bologna, Istituto di Ematologia "Seràgnoli", Bologna, Italy.
  • Nicola Vianelli Emergency Surgery Unit, Sant’Orsola-Malpighi University Hospital, Bologna, Italy.
  • Michele Cavo IRCCS Azienda Ospedaliero- Universitaria di Bologna, Istituto di Ematologia "Seràgnoli", Bologna, Italy.
  • Francesca Palandri IRCCS Azienda Ospedaliero- Universitaria di Bologna, Istituto di Ematologia "Seràgnoli", Bologna, Italy.

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.

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Published
2021-06-21
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Section
Case Reports
Keywords:
Splenomegaly, Next Generation Sequencing, Myeloproliferative Neoplasms
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How to Cite
Auteri, G., Bartoletti, D., Bertuzzi, C., Bacci, F., Tonini, V., Catani, L., Vianelli, N., Cavo, M., & Palandri, F. (2021). The diagnostic role of Next Generation Sequencing in uncovering isolated splenomegaly: A case report. Hematology Reports, 13(2). https://doi.org/10.4081/hr.2021.8814