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.

Auteri G., Bartoletti D., Bertuzzi C., Bacci F., Tonini V., Catani L., et al. (2021). The diagnostic role of next generation sequencing in uncovering isolated splenomegaly: A case report. HEMATOLOGY REPORTS, 13(2), 8814-8817 [10.4081/hr.2021.8814].

The diagnostic role of next generation sequencing in uncovering isolated splenomegaly: A case report

Auteri G.
Primo
;
Bartoletti D.;Bertuzzi C.;Tonini V.;Catani L.;Vianelli N.;Cavo M.
Penultimo
;
Palandri F.
Ultimo
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.
2021
Auteri G., Bartoletti D., Bertuzzi C., Bacci F., Tonini V., Catani L., et al. (2021). The diagnostic role of next generation sequencing in uncovering isolated splenomegaly: A case report. HEMATOLOGY REPORTS, 13(2), 8814-8817 [10.4081/hr.2021.8814].
Auteri G.; Bartoletti D.; Bertuzzi C.; Bacci F.; Tonini V.; Catani L.; Vianelli N.; Cavo M.; Palandri F.
File in questo prodotto:
File Dimensione Formato  
hr-13-2-8814.pdf

accesso aperto

Descrizione: Report con dati scientifici
Tipo: Versione (PDF) editoriale
Licenza: Licenza per Accesso Aperto. Creative Commons Attribuzione - Non commerciale (CCBYNC)
Dimensione 250 kB
Formato Adobe PDF
250 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/859451
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 0
  • ???jsp.display-item.citation.isi??? ND
social impact