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Hematopoietic stem cell transplantation for hemophagocytic lymphohistiocytosis: a retrospective analysis of data from the Italian Association of Pediatric Hematology Oncology (AIEOP)

¹ Oncoematologia Pediatrica, Dipartimento di Pediatria, Università di Padova, Padova, Italy;
² Oncoematologia Pediatrica, Fondazione IRCCS Policlinico San Matteo, Università di Pavia, Pavia, Italy;
³ Dipartimento di Ematologia e Oncologia Pediatrica, IRCCS Giannina Gaslini, Genova, Italy;
⁴ Clinica Pediatrica , Università di Brescia, Spedali Civili di Brescia, Italy;
⁵ Clinica Pediatrica, Università Milano-Bicocca, Ospedale Nuovo S. Gerardo, Monza, Italy;
⁶ Oncologia ed Ematologia Pediatrica "Lalla Seràgnoli", Ospedale S. Orsola Malpighi, Università di Bologna;
⁷ Oncoematologia Pediatrica, Ospedale Pausilipon, Napoli, Italy;
⁸ Centro Trapianti Trapianti di Midollo, IRCCS Burlo Garofolo, Trieste, Italy;
⁹ Dipartimento di Oncoematologia Pediatrica, Azienda Ospedaliero-Universitaria Meyer, Firenze, Italy and
¹⁰ Oncoematologia Pediatrica, Ospedale Infantile Regina Margherita, Torino, Italy

Correspondence: Simone Cesaro, MD, Oncoematologia Pediatrica, Dipartimento di Pediatria, Università di Padova, Via Giustiniani 3, 35128, Padova Italy. E-mail:simone.cesaro{at}unipd.it

ABSTRACT

Background: Hemophagocytic lymphohistiocytosis is a life-threatening disease. Hematopoietic stem cell transplantation (HSCT) still represents the treatment of choice for most patients with this disease.

Design and Methods: We retrospectively analyzed 61patients with hemophagocytic lymphohistiocytosis who underwent HSCT over a 17-year period at nine centers affiliated to the Italian Pediatric Hematology Oncology Association (AIEOP). The median time from diagnosis to HSCT was 0.6 years (range, 0.13–5). The donor for the first HSCT was either a relative (43%) or an unrelated volunteer (57%). Fifty-four patients (89%) had a complete genetic study, which led to the diagnoses of FHL2, due to perforin defect (21 patients), FHL3, due to Munc 13-4 defect (14 patients), Griscelli disease (2 patients), X-linked lymphoproliferative disease (1 patient), and CATCH22 syndrome (1 patient). No mutations were found in the remaining 15 patients. Twenty-one patients had neurological involvement at diagnosis.

Results: Three patients failed to engraft. Grade II–IV acute and chronic graft-versus-host disease occurred in 31% and 17% of patients, respectively. Overall, 39 patients are alive (64%), 15 died of toxicity, 6 of progressive disease and 1 of sudden death.The 8-year overall survival probability was 58.6% (95% confidence interval, CI 42–72), while the cumulative incidence of transplantation-related mortality was 25.7% (95% confidence interval, 16–40). The outcome of patients with a known genetic defect was comparable to that of patients without mutation. Neurological sequelae were reported in seven patients, six of whom had central nervous system disease at diagnosis.

Conclusions: These data confirm that HSCT represents a curative treatment for a large proportion of HLH, irrespective of the underlying genetic defect.

Key words: hemophagocytic lymphohistiocytosis, perforin defect, hematopoietic stem cell transplantation, transplantation-related mortality, children.