Myeloid Sarcoma of the Breast as Blast Phase of JAK2-Mutated (Val617Phe Exon 14p) Essential Thrombocythemia: A Case Report and a Systematic Literature Review

Novel Insights from Research Practice

Pace M.a· Guadagno E.a· Russo D.a· Gencarelli A.a· Carlea A.b· Di Spiezio A.c· Bertuzzi C.d· Mascolo M.a· Grimaldi F.e· Insabato L.a

Author affiliations

aDepartment of Advanced Biomedical Sciences, Pathology Section- Federico II University Hospital of Naples, Naples, Italy
bDepartment of Neurosciences, Reproductive Sciences and Dentistry, Gynecology Unit-Federico II University Hospital of Naples, Naples, Italy
cDepartment of Public Health, Gynecology Unit-Federico II University Hospital of Naples, Naples, Italy
dDepartment of Experimental, Diagnostic and Specialty Medicine, Hematopathology Unit, University of Bologna, Bologna, Italy
eDepartment of Clinical Medicine and Surgery, Hematology Unit, Federico II University Hospital of Naples, Naples, Italy

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Article / Publication Details

First-Page Preview

Abstract of Novel Insights from Research Practice

Received: July 17, 2021
Accepted: May 12, 2022
Published online: July 18, 2022

Number of Print Pages: 8
Number of Figures: 1
Number of Tables: 1

ISSN: 1015-2008 (Print)
eISSN: 1423-0291 (Online)

For additional information: https://www.karger.com/PAT

Abstract

Introduction: Myeloid sarcoma (MS) is a mass-forming proliferation of myeloid blasts. Frequently, it arises as blast phase of pre-existing myeloproliferative, myelodysplastic disorders or consequent to bone marrow transplant. Its molecular characterization has become an increasingly important requirement for the diagnostic definition of this solid leukemia. Case Presentation: Our case report concerns an MS arising in the breast of a woman with a previous diagnosis of JAK2-mutated essential thrombocythemia (Val617Phe exon 14p) mimicking, on histology, a lobular carcinoma of the breast. The immunohistochemical study of the neoplasm provided the key that solved the diagnostic doubt and the immunohistochemical evaluation of NPM protein expression, which turn out to be negative, provided a clear indication on the molecular status and prognosis of the disease. A year later, the neoplasm relapsed in the pelvic area. Discussion: This diagnostic challenge led us to review the literature of the past 10 years concerning MS of the breast. To the best of our knowledge, this was the first case of MS of the breast occurring in a patient with a history of essential thrombocythemia and recurred in the pelvic region.

© 2022 S. Karger AG, Basel

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First-Page Preview

Abstract of Novel Insights from Research Practice

Received: July 17, 2021
Accepted: May 12, 2022
Published online: July 18, 2022

Number of Print Pages: 8
Number of Figures: 1
Number of Tables: 1

ISSN: 1015-2008 (Print)
eISSN: 1423-0291 (Online)

For additional information: https://www.karger.com/PAT

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