{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:40:20Z","timestamp":1760150420409,"version":"build-2065373602"},"reference-count":19,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T00:00:00Z","timestamp":1700092800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University of Insubria","award":["CP2_10\/2018","08069119","08045818"],"award-info":[{"award-number":["CP2_10\/2018","08069119","08045818"]}]},{"name":"Fondazione Regionale per la Ricerca Biomedica","award":["CP2_10\/2018","08069119","08045818"],"award-info":[{"award-number":["CP2_10\/2018","08069119","08045818"]}]},{"name":"Italian Ministry of Health","award":["CP2_10\/2018","08069119","08045818"],"award-info":[{"award-number":["CP2_10\/2018","08069119","08045818"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The patient reported here underwent hematopoietic stem cell transplantation (HSCT) due to chronic granulomatous disease (CGD) caused by biallelic mutations of the NCF1 gene. Two years later, he developed AML, which was unexpected and was recognized via sex-mismatched chromosomes as deriving from the donor cells; the patient was male, and the donor was his sister. Donor cell leukemia (DCL) is very rare, and it had never been reported in patients with CGD after HSCT. In the subsequent ten years, the AML relapsed three times and the patient underwent chemotherapy and three further HSCTs; donors were the same sister from the first HSCT, an unrelated donor, and his mother. The patient died during the third relapse. The DCL was characterized since onset by an acquired translocation between chromosomes 9 and 11, with a molecular rearrangement between the MLL and MLLT3 genes\u2014a quite frequent cause of AML. In all of the relapses, the malignant clone had XX sex chromosomes and this rearrangement, thus indicating that it was always the original clone derived from the transplanted sister\u2019s cells. It exhibited the ability to remain quiescent in the BM during repeated chemotherapy courses, remission periods and HSCT. The leukemic clone then acquired different additional anomalies during the ten years of follow-up, with cytogenetic results characterized both by anomalies frequent in AML and by different, non-recurrent changes. This type of cytogenetic course is uncommon in AML.<\/jats:p>","DOI":"10.3390\/genes14112085","type":"journal-article","created":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T08:19:43Z","timestamp":1700122783000},"page":"2085","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7666-5311","authenticated-orcid":false,"given":"Giovanni","family":"Micheloni","sequence":"first","affiliation":[{"name":"Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Universit\u00e0 dell\u2019Insubria, 21100 Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1166-3091","authenticated-orcid":false,"given":"Annalisa","family":"Frattini","sequence":"additional","affiliation":[{"name":"Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Universit\u00e0 dell\u2019Insubria, 21100 Varese, Italy"},{"name":"Istituto di Ricerca Genetica e Biomedica, CNR, 20090 Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3101-0183","authenticated-orcid":false,"given":"Marta","family":"Donini","sequence":"additional","affiliation":[{"name":"Section of General Pathology, Department of Medicine, University of Verona, 37134 Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9753-5076","authenticated-orcid":false,"given":"Stefano","family":"Dusi","sequence":"additional","affiliation":[{"name":"Section of General Pathology, Department of Medicine, University of Verona, 37134 Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4015-6644","authenticated-orcid":false,"given":"Anna","family":"Leszl","sequence":"additional","affiliation":[{"name":"Clinica Oncoematologica, Dipartimento di Salute della Donna e del Bambino, Universit\u00e0 degli Studi di Padova, 35131 Padova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annamaria","family":"Di Meglio","sequence":"additional","affiliation":[{"name":"Clinica Oncoematologica, Dipartimento di Salute della Donna e del Bambino, Universit\u00e0 degli Studi di Padova, 35131 Padova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4793-5263","authenticated-orcid":false,"given":"Martina","family":"Pigazzi","sequence":"additional","affiliation":[{"name":"Clinica Oncoematologica, Dipartimento di Salute della Donna e del Bambino, Universit\u00e0 degli Studi di Padova, 35131 Padova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7701-6543","authenticated-orcid":false,"given":"Antonio","family":"Musio","sequence":"additional","affiliation":[{"name":"Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 56124 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8818-1744","authenticated-orcid":false,"given":"Marco","family":"Zecca","sequence":"additional","affiliation":[{"name":"Pediatric Hematology\/Oncology, Fondazione IRCCS Policlinico S. Matteo, 27100 Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tommaso","family":"Mina","sequence":"additional","affiliation":[{"name":"Pediatric Hematology\/Oncology, Fondazione IRCCS Policlinico S. Matteo, 27100 Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Rabusin","sequence":"additional","affiliation":[{"name":"Emato-oncologia e Centro Trapianti, IRCCS Burlo Garofolo, 34137 Trieste, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela","family":"Roccia","sequence":"additional","affiliation":[{"name":"Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Universit\u00e0 dell\u2019Insubria, 21100 Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6043-3367","authenticated-orcid":false,"given":"Paolo","family":"Bernasconi","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy"},{"name":"Hematology Department, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0490-9831","authenticated-orcid":false,"given":"Irene","family":"Dambruoso","sequence":"additional","affiliation":[{"name":"Hematology Department, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0066-5195","authenticated-orcid":false,"given":"Antonella","family":"Minelli","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Montalbano","sequence":"additional","affiliation":[{"name":"Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Universit\u00e0 dell\u2019Insubria, 21100 Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9537-400X","authenticated-orcid":false,"given":"Francesco","family":"Acquati","sequence":"additional","affiliation":[{"name":"Dipartimento di Biotecnologie e Scienze della Vita, Universit\u00e0 dell\u2019Insubria, 21100 Varese, Italy"},{"name":"Centro di Medicina Genomica, Universit\u00e0 dell\u2019Insubria, 21100 Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Porta","sequence":"additional","affiliation":[{"name":"Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Universit\u00e0 dell\u2019Insubria, 21100 Varese, Italy"},{"name":"Centro di Medicina Genomica, Universit\u00e0 dell\u2019Insubria, 21100 Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3209-8917","authenticated-orcid":false,"given":"Roberto","family":"Valli","sequence":"additional","affiliation":[{"name":"Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Universit\u00e0 dell\u2019Insubria, 21100 Varese, Italy"},{"name":"Centro di Medicina Genomica, Universit\u00e0 dell\u2019Insubria, 21100 Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Pasquali","sequence":"additional","affiliation":[{"name":"Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Universit\u00e0 dell\u2019Insubria, 21100 Varese, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,11,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/j.bbmt.2010.10.010","article-title":"Donor Cell Leukemia: A Review","volume":"17","author":"Wiseman","year":"2011","journal-title":"Biol. 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