Donor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant

Giorgia Ranucci; Camilla Page; Enrica Marchionni; Chiara Minotti; Giorgia Silvestrini; Susanna Gastaldi; Giada Pacitto; Laura Cicconi; Annalisa Biagi; Valentina Ferradini; Enrico Attardi; Giuseppe Novelli; Federica Sangiuolo; Maria Teresa Voso; Carmelo Gurnari

doi:10.1007/s00277-024-06140-w

Donor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant

Ann Hematol. 2024 Dec;103(12):5999-6002. doi: 10.1007/s00277-024-06140-w. Epub 2024 Dec 14.

Authors

Giorgia Ranucci^#¹, Camilla Page^#¹, Enrica Marchionni², Chiara Minotti¹, Giorgia Silvestrini^{1

3}, Susanna Gastaldi¹, Giada Pacitto⁴, Laura Cicconi⁴, Annalisa Biagi⁴, Valentina Ferradini², Enrico Attardi^{5

6

7

8}, Giuseppe Novelli^{1

2}, Federica Sangiuolo^{1

2}, Maria Teresa Voso^#¹, Carmelo Gurnari^#^{9

10

11}

Affiliations

¹ Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
² Medical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.
³ Department of Biomedicine and Prevention, PhD in Immunology, Molecular Medicine and Applied Biotechnology, University of Rome Tor Vergata, Rome, Italy.
⁴ Department of Hematology, Polo Universitario Pontino, S.M. Goretti Hospital, Latina, Italy.
⁵ Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy. [email protected].
⁶ Department of Biomedicine and Prevention, PhD in Immunology, Molecular Medicine and Applied Biotechnology, University of Rome Tor Vergata, Rome, Italy. [email protected].
⁷ St. Jude Children's Research Hospital, Department of Hematology, Memphis, TN, USA. [email protected].
⁸ Department of Biomedicine and Prevention, Tor Vergata University, Viale Oxford 81, Rome, 00133, Italy. [email protected].
⁹ Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy. [email protected].
¹⁰ Translational Hematology and Oncology Research Department, Taussig Cancer Center, Cleveland Clinic, Cleveland, OH, USA. [email protected].
¹¹ Department of Biomedicine and Prevention, Tor Vergata University, Viale Oxford 81, Rome, 00133, Italy. [email protected].

^# Contributed equally.

PMID: 39672944
DOI: 10.1007/s00277-024-06140-w

Abstract

Recently, germline variants have also been found as contributors of disease etiology in myeloproliferative neoplasms (MPN). The consideration of such inherited traits is crucial for clinical management of patients, particularly with regards to indication for allogeneic hematopoietic cell transplant (allo-HCT) and donor selections. Herein, we describe the very instructive case of a 49-year-old woman diagnosed with JAK2 V617F-positive primary myelofibrosis (PMF) who was found to also carry a germline variant in the SH2B3 gene, detailing clinical management, donor selection process for allo-HCT purposes, and appropriate genetic counseling.

Keywords: Genetic counseling; Germline predisposition; Myeloid malignancies.

Publication types

Case Reports

MeSH terms

Adaptor Proteins, Signal Transducing* / genetics
Allografts
Donor Selection
Female
Germ-Line Mutation*
Hematopoietic Stem Cell Transplantation*
Humans
Intracellular Signaling Peptides and Proteins / genetics
Janus Kinase 2* / genetics
Middle Aged
Primary Myelofibrosis* / genetics
Primary Myelofibrosis* / therapy
Transplantation, Homologous

Substances

Janus Kinase 2
JAK2 protein, human
SH2B3 protein, human
Adaptor Proteins, Signal Transducing
Intracellular Signaling Peptides and Proteins