Abstract We report a de novo aleukemic form of MCL with a complex monosomic karyotype with LOH for multiple chromosomes and TP53 mutation. Additionally, whereas D816V KIT was not found, the c‐Kit transmembrane domain p.M541L variant was detected which is the most common SNP of KIT gene in humans with controversial pathogenic role. In these cases, it is crucial to perform a rapid broad molecular study for an accurate diagnosis which could help to initiate targeted therapy.
European Journal of HaematologyEarly View LETTER TO THE EDITOR Measurable Residual Disease in UBTF-TD Adult Acute Myeloid Leukemia Helena Castellet, Helena Castellet Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorGuillermo Ramil, Guillermo Ramil Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorMaite Carricondo, Maite Carricondo Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorGuadalupe Oñate, Guadalupe Oñate Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorAna Garrido, Ana Garrido Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorAlícia Artigas, Alícia Artigas Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorMarta Pratcorona, Marta Pratcorona Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorOlga Salamero, Olga Salamero Hospital Universitari de la Vall d'Hebrón, Barcelona, SpainSearch for more papers by this authorAlbert Cortés-Bullich, Albert Cortés-Bullich Hospital Clínic de Barcelona, Barcelona, SpainSearch for more papers by this authorSusana Vives, Susana Vives Hospital Germans Trias i Pujol de Badalona, Badalona, SpainSearch for more papers by this authorMar Tormo, Mar Tormo Hospital Clínico de Valencia, Valencia, SpainSearch for more papers by this authorMartí Mascaró, Martí Mascaró Hospital de Son Llàtzer, Palma de Mallorca, SpainSearch for more papers by this authorDavid Gallardo, David Gallardo ICO Girona, Girona, SpainSearch for more papers by this authorJosep Maria Marti Tutusaus, Josep Maria Marti Tutusaus Hospital Mútua de Terrassa, Terrassa, SpainSearch for more papers by this authorAntonio Garcia, Antonio Garcia Hospital Arnau Vilanova de Lleida, Lleida, SpainSearch for more papers by this authorJorge Sierra, Jorge Sierra Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorJordi Esteve, Jordi Esteve Hospital Clínic de Barcelona, Barcelona, SpainSearch for more papers by this authorJosep Nomdedéu, Corresponding Author Josep Nomdedéu [email protected] orcid.org/0000-0003-3399-346X Hospital de la Santa Creu i Sant Pau, Barcelona, Spain Correspondence: Josep Nomdedéu ([email protected])Search for more papers by this authorthe CETLAM group, the CETLAM groupSearch for more papers by this author Helena Castellet, Helena Castellet Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorGuillermo Ramil, Guillermo Ramil Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorMaite Carricondo, Maite Carricondo Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorGuadalupe Oñate, Guadalupe Oñate Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorAna Garrido, Ana Garrido Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorAlícia Artigas, Alícia Artigas Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorMarta Pratcorona, Marta Pratcorona Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorOlga Salamero, Olga Salamero Hospital Universitari de la Vall d'Hebrón, Barcelona, SpainSearch for more papers by this authorAlbert Cortés-Bullich, Albert Cortés-Bullich Hospital Clínic de Barcelona, Barcelona, SpainSearch for more papers by this authorSusana Vives, Susana Vives Hospital Germans Trias i Pujol de Badalona, Badalona, SpainSearch for more papers by this authorMar Tormo, Mar Tormo Hospital Clínico de Valencia, Valencia, SpainSearch for more papers by this authorMartí Mascaró, Martí Mascaró Hospital de Son Llàtzer, Palma de Mallorca, SpainSearch for more papers by this authorDavid Gallardo, David Gallardo ICO Girona, Girona, SpainSearch for more papers by this authorJosep Maria Marti Tutusaus, Josep Maria Marti Tutusaus Hospital Mútua de Terrassa, Terrassa, SpainSearch for more papers by this authorAntonio Garcia, Antonio Garcia Hospital Arnau Vilanova de Lleida, Lleida, SpainSearch for more papers by this authorJorge Sierra, Jorge Sierra Hospital de la Santa Creu i Sant Pau, Barcelona, SpainSearch for more papers by this authorJordi Esteve, Jordi Esteve Hospital Clínic de Barcelona, Barcelona, SpainSearch for more papers by this authorJosep Nomdedéu, Corresponding Author Josep Nomdedéu [email protected] orcid.org/0000-0003-3399-346X Hospital de la Santa Creu i Sant Pau, Barcelona, Spain Correspondence: Josep Nomdedéu ([email protected])Search for more papers by this authorthe CETLAM group, the CETLAM groupSearch for more papers by this author First published: 23 February 2025 https://doi.org/10.1111/ejh.14402Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation 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Learn more.Copy URL Share a linkShare onEmailFacebookxLinkedInRedditWechat No abstract is available for this article. References 1M. Umeda, J. Ma, B. J. Huang, et al., "Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia," Blood Cancer Discovery 3, no. 3 (2022): 194–207. 10.1158/2643-3230.BCD-21-0160 CASPubMedWeb of Science®Google Scholar 2N. Duployez, L. Vasseur, R. Kim, et al., "UBTF Tandem Duplications Define a Distinct Subtype of Adult de Novo Acute Myeloid Leukemia," Leukemia 37, no. 6 (2023): 1245–1253. 10.1038/s41375-023-01906-z CASPubMedWeb of Science®Google Scholar 3J. A. Georgi, S. Stasik, J. N. Eckardt, et al., "Study Alliance Leukemia (SAL). UBTF Tandem Duplications are Rare but Recurrent Alterations in Adult AML and Associated With Younger Age, Myelodysplasia, and Inferior Outcome," Blood Cancer Journal 13, no. 1 (2023): 88. 10.1038/s41408-023-00858-y PubMedWeb of Science®Google Scholar 4J. M. Barajas, M. Umeda, L. Contreras, et al., "UBTF Tandem Duplications in Pediatric MDS and AML: Implications for Clinical Screening and Diagnosis," medRxiv (2023), https://doi.org/10.1101/2023.11.13.23298320. 10.1101/2023.11.13.23298320 Google Scholar 5J. F. Nomdedéu, M. Hoyos, M. Carricondo, et al., "Bone Marrow WT1 Levels at Diagnosis, Post-Induction and Post-Intensification in Adult de Novo AML," Leukemia 27, no. 11 (2013): 2157–2164. 10.1038/leu.2013.111 CASPubMedWeb of Science®Google Scholar 6S. Harrop, P. C. Nguyen, D. Byrne, et al., "Persistence of UBTF Tandem Duplications in Remission in Acute Myeloid Leukaemia," EJHaem 4, no. 4 (2023): 1105–1109. 10.1002/jha2.808 CASPubMedWeb of Science®Google Scholar Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation