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3. European standard clinical practice - Key issues for the medical care of individuals with familial leukemia

Author

Förster, A, Davenport, C, Duployez, N, Erlacher, M, Ferster, A, Fitzgibbon, J, Göhring, G, Hasle, H, Jongmans, M, Kolenova, A, Kronnie, G, Lammens, T, Mecucci, C, Mlynarski, W, Niemeyer, C, Sole, F, Szczepanski, T, Waanders, E, Biondi, A, Wlodarski, M, Schlegelberger, B, Ripperger, T, Förster, Alisa, Davenport, Claudia, Duployez, Nicolas, Erlacher, Miriam, Ferster, Alina, Fitzgibbon, Jude, Göhring, Gudrun, Hasle, Henrik, Jongmans, Marjolijn C, Kolenova, Alexandra, Kronnie, Geertruijte, Lammens, Tim, Mecucci, Cristina, Mlynarski, Wojciech, Niemeyer, Charlotte M, Sole, Francesc, Szczepanski, Tomasz, Waanders, Esmé, Biondi, Andrea, Wlodarski, Marcin, Schlegelberger, Brigitte, Ripperger, Tim, Förster, A, Davenport, C, Duployez, N, Erlacher, M, Ferster, A, Fitzgibbon, J, Göhring, G, Hasle, H, Jongmans, M, Kolenova, A, Kronnie, G, Lammens, T, Mecucci, C, Mlynarski, W, Niemeyer, C, Sole, F, Szczepanski, T, Waanders, E, Biondi, A, Wlodarski, M, Schlegelberger, B, Ripperger, T, Förster, Alisa, Davenport, Claudia, Duployez, Nicolas, Erlacher, Miriam, Ferster, Alina, Fitzgibbon, Jude, Göhring, Gudrun, Hasle, Henrik, Jongmans, Marjolijn C, Kolenova, Alexandra, Kronnie, Geertruijte, Lammens, Tim, Mecucci, Cristina, Mlynarski, Wojciech, Niemeyer, Charlotte M, Sole, Francesc, Szczepanski, Tomasz, Waanders, Esmé, Biondi, Andrea, Wlodarski, Marcin, Schlegelberger, Brigitte, and Ripperger, Tim

Abstract

Although hematologic malignancies (HM) are no longer considered exclusively sporadic, additional awareness of familial cases has yet to be created. Individuals carrying a (likely) pathogenic germline variant (e.g., in ETV6, GATA2, SAMD9, SAMD9L, or RUNX1) are at an increased risk for developing HM. Given the clinical and psychological impact associated with the diagnosis of a genetic predisposition to HM, it is of utmost importance to provide high-quality, standardized patient care. To address these issues and harmonize care across Europe, the Familial Leukemia Subnetwork within the ERN PaedCan has been assigned to draft an European Standard Clinical Practice (ESCP) document reflecting current best practices for pediatric patients and (healthy) relatives with (suspected) familial leukemia. The group was supported by members of the German network for rare diseases MyPred, of the Host Genome Working Group of SIOPE, and of the COST action LEGEND. The ESCP on familial leukemia is proposed by an interdisciplinary team of experts including hematologists, oncologists, and human geneticists. It is intended to provide general recommendations in areas where disease-specific recommendations do not yet exist. Here, we describe key issues for the medical care of familial leukemia that shall pave the way for a future consensus guideline: (i) identification of individuals with or suggestive of familial leukemia, (ii) genetic analysis and variant interpretation, (iii) genetic counseling and patient education, and (iv) surveillance and (psychological) support. To address the question on how to proceed with individuals suggestive of or at risk of familial leukemia, we developed an algorithm covering four different, partially linked clinical scenarios, and additionally a decision tree to guide clinicians in their considerations regarding familial leukemia in minors with HM. Our recommendations cover, not only patients but also relatives that both should have access to adequate medical

Published
2023

4. Hereditäres Ovarialkarzinom

Author

Kiechle, M., Arnold, N., and Schlegelberger, B.

Abstract

Zusammenfassung: Knapp 8000 Frauen erkranken jährlich in Deutschland an einem epithelialen Ovarialkarzinom, welches damit den zweithäufigsten malignen Genitaltumor der Frau darstellt. In der Todesursachenstatistik steht es an 7. Stelle und nimmt demzufolge eine führende Rolle unter den gynäkologischen Tumoren ein. 95% der Ovarialkarzinome treten sporadisch auf. Bei etwa 5–10% geht man von einer genetischen Prädisposition aus. Das Ovarialkarzinom zählt zu den Genitalkarzinomen mit der ungünstigsten Prognose. Keimbahnmutationen der Gene BRCA1 und BRCA2 liegen der erblichen Variante des Ovarialkarzinoms ursächlich zugrunde. Die klinische Bedeutung der betreffenden Syndrome wächst mit der Möglichkeit der prädiktiven Diagnostik der prädisponierenden Gene. Mutationsträgerinnen besitzen ein bis zu 60%iges Risiko für das Auftreten eines Ovarialkarzinoms. Die klinische Herausforderung besteht in der Identifikation von Hochrisikopatientinnen mit dem Ziel, diese im Rahmen von interdisziplinären Beratungskonzepten über effektive präventive Maßnahmen zu informieren.

Published
2024
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5. Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis

Author

Ratnaparkhe, M, Hlevnjak, M, Kolb, T, Jauch, A, Maass, K K, Devens, F, Rode, A, Hovestadt, V, Korshunov, A, Pastorczak, A, Mlynarski, W, Sungalee, S, Korbel, J, Hoell, J, Fischer, U, Milde, T, Kramm, C, Nathrath, M, Chrzanowska, K, Tausch, E, Takagi, M, Taga, T, Constantini, S, Loeffen, J, Meijerink, J, Zielen, S, Gohring, G, Schlegelberger, B, Maass, E, Siebert, R, Kunz, J, Kulozik, A E, Worst, B, Jones, D T, Pfister, S M, Zapatka, M, Lichter, P, and Ernst, A

Published
2017
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6. Acute myeloid leukemia derived from lympho-myeloid clonal hematopoiesis

Author

Thol, F, Klesse, S, Köhler, L, Gabdoulline, R, Kloos, A, Liebich, A, Wichmann, M, Chaturvedi, A, Fabisch, J, Gaidzik, V I, Paschka, P, Bullinger, L, Bug, G, Serve, H, Göhring, G, Schlegelberger, B, Lübbert, M, Kirchner, H, Wattad, M, Kraemer, D, Hertenstein, B, Heil, G, Fiedler, W, Krauter, J, Schlenk, R F, Döhner, K, Döhner, H, Ganser, A, and Heuser, M

Published
2017
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8. DNMT3A mutant transcript levels persist in remission and do not predict outcome in patients with acute myeloid leukemia

Author

Gaidzik, V I, Weber, D, Paschka, P, Kaumanns, A, Krieger, S, Corbacioglu, A, Krönke, J, Kapp-Schwoerer, S, Krämer, D, Horst, H-A, Schmidt-Wolf, I, Held, G, Kündgen, A, Ringhoffer, M, Götze, K, Kindler, T, Fiedler, W, Wattad, M, Schlenk, R F, Bullinger, L, Teleanu, V, Schlegelberger, B, Thol, F, Heuser, M, Ganser, A, Döhner, H, and Döhner, K

Published
2018
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9. RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features

Author

Gaidzik, V I, Teleanu, V, Papaemmanuil, E, Weber, D, Paschka, P, Hahn, J, Wallrabenstein, T, Kolbinger, B, Köhne, C H, Horst, H A, Brossart, P, Held, G, Kündgen, A, Ringhoffer, M, Götze, K, Rummel, M, Gerstung, M, Campbell, P, Kraus, J M, Kestler, H A, Thol, F, Heuser, M, Schlegelberger, B, Ganser, A, Bullinger, L, Schlenk, R F, Döhner, K, and Döhner, H

Published
2016
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10. P305: COMPREHENSIVE TRANSCRIPTIONAL AND CYTOGENETIC PROFILING IMPROVES CLASSIFICATION AND DETECTION OF RISK-STRATIFYING MARKERS IN THE B-OTHER PEDIATRIC ACUTE LYMPHOBLASTIC LEUKEMIA

Author

Antić, Ž., primary, Chouvarine, P., additional, Lentes, J., additional, Schröder, C., additional, Alten, J., additional, Möricke, A., additional, Brüggemann, M., additional, Carrillo-de Santa Pau, E., additional, Illig, T., additional, Laguna, T., additional, Schewe, D. M., additional, Stanulla, M., additional, Tang, M., additional, Zimmermann, M., additional, Schrappe, M., additional, Schlegelberger, B., additional, Cario, G., additional, and Bergmann, A. K., additional

Published
2022
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11. Implementation of RNA sequencing and array CGH in the diagnostic workflow of the AIEOP-BFM ALL 2017 trial on acute lymphoblastic leukemia

Author

Schieck, M, Lentes, J, Thomay, K, Hofmann, W, Behrens, Y, Hagedorn, M, Ebersold, J, Davenport, C, Fazio, G, Moricke, A, Buchmann, S, Alten, J, Cario, G, Schrappe, M, Bergmann, A, Stanulla, M, Steinemann, D, Schlegelberger, B, Cazzaniga, G, Gohring, G, Schieck M., Lentes J., Thomay K., Hofmann W., Behrens Y. L., Hagedorn M., Ebersold J., Davenport C. F., Fazio G., Moricke A., Buchmann S., Alten J., Cario G., Schrappe M., Bergmann A. K., Stanulla M., Steinemann D., Schlegelberger B., Cazzaniga G., Gohring G., Schieck, M, Lentes, J, Thomay, K, Hofmann, W, Behrens, Y, Hagedorn, M, Ebersold, J, Davenport, C, Fazio, G, Moricke, A, Buchmann, S, Alten, J, Cario, G, Schrappe, M, Bergmann, A, Stanulla, M, Steinemann, D, Schlegelberger, B, Cazzaniga, G, Gohring, G, Schieck M., Lentes J., Thomay K., Hofmann W., Behrens Y. L., Hagedorn M., Ebersold J., Davenport C. F., Fazio G., Moricke A., Buchmann S., Alten J., Cario G., Schrappe M., Bergmann A. K., Stanulla M., Steinemann D., Schlegelberger B., Cazzaniga G., and Gohring G.

Abstract

Risk-adapted therapy has significantly contributed to improved survival rates in pediatric acute lymphoblastic leukemia (ALL) and reliable detection of chromosomal aberrations is mandatory for risk group stratification. This study evaluated the applicability of panel-based RNA sequencing and array CGH within the diagnostic workflow of the German study group of the international AIEOP-BFM ALL 2017 trial. In a consecutive cohort of 117 children with B cell precursor (BCP) ALL, array analysis identified twelve cases with an IKZF1plus profile of gene deletions and one case of masked hypodiploidy. Genetic markers BCR-ABL1 (n = 1), ETV6-RUNX1 (n = 25), and rearrangements involving KMT2A (n = 3) or TCF3 (n = 3) were assessed by established conventional techniques such as karyotyping, FISH, and RT-PCR. Comparison of these results with RNA sequencing analysis revealed overall consistency in n=115/117 cases, albeit with one undetected AFF1-KMT2A fusion in RNA sequencing and one undetected ETV6-RUNX1 fusion in conventional analyses. The combined application of RNA sequencing, FISH, and CGH+SNP array reliably detected all genetic markers necessary for risk stratification and will be used as the diagnostic standard workflow for BCP-ALL patients enrolled in the AIEOP-BFM ALL 2017 study. Prospectively, consistent collection of genome-wide CGH+SNP array as well as RNA sequencing data will be a valuable source to elucidate new prognostic lesions beyond established markers of pediatric ALL. In this respect, RNA sequencing identified various gene fusions in up to half of the IKZF1plus (n = 6/12) and B-other (n = 19/36) cases but not in cases with hyperdiploid karyotypes (n = 35). Among these fusions, this study reports several previously undescribed in frame PAX5 fusions, including PAX5-MYO1G and PAX5-NCOA6.

Published
2020

13. Assessment of imatinib as first-line treatment of chronic myeloid leukemia: 10-year survival results of the randomized CML study IV and impact of non-CML determinants

Author

Hehlmann, R, Lauseker, M, Saußele, S, Pfirrmann, M, Krause, S, Kolb, H J, Neubauer, A, Hossfeld, D K, Nerl, C, Gratwohl, A, Baerlocher, G M, Heim, D, Brümmendorf, T H, Fabarius, A, Haferlach, C, Schlegelberger, B, Müller, M C, Jeromin, S, Proetel, U, Kohlbrenner, K, Voskanyan, A, Rinaldetti, S, Seifarth, W, Spieß, B, Balleisen, L, Goebeler, M C, Hänel, M, Ho, A, Dengler, J, Falge, C, Kanz, L, Kremers, S, Burchert, A, Kneba, M, Stegelmann, F, Köhne, C A, Lindemann, H W, Waller, C F, Pfreundschuh, M, Spiekermann, K, Berdel, W E, Müller, L, Edinger, M, Mayer, J, Beelen, D W, Bentz, M, Link, H, Hertenstein, B, Fuchs, R, Wernli, M, Schlegel, F, Schlag, R, de Wit, M, Trümper, L, Hebart, H, Hahn, M, Thomalla, J, Scheid, C, Schafhausen, P, Verbeek, W, Eckart, M J, Gassmann, W, Pezzutto, A, Schenk, M, Brossart, P, Geer, T, Bildat, S, Schäfer, E, Hochhaus, A, and Hasford, J

Published
2017
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14. Frequency and prognostic impact of casein kinase 1A1 mutations in MDS patients with deletion of chromosome 5q

Author

Heuser, M, Meggendorfer, M, Cruz, M M A, Fabisch, J, Klesse, S, Köhler, L, Göhring, G, Ganster, C, Shirneshan, K, Gutermuth, A, Cerny-Reiterer, S, Krönke, J, Panagiota, V, Haferlach, C, Koenecke, C, Platzbecker, U, Thiede, C, Schroeder, T, Kobbe, G, Ehrlich, S, Stamer, K, Döhner, K, Valent, P, Schlegelberger, B, Kroeger, N, Ganser, A, Haase, D, Haferlach, T, and Thol, F

Published
2015
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19. Routinely Prepared Cells for Cytogenetic Analysis Stored at −20 °C for Several Years can be Used for RT-PCR-Based Detection of Chromosomal Aberrations in Leukemias

Author

Schafhausen, P., Schoch, R., Nickelsen, M., Haferlach, T., Jenisch, S., Weber-Matthiesen, K., Schlegelberger, B., Krönke, M., Gassmann, W., Löffler, H., Hiddemann, W., editor, Büchner, T., editor, Wörmann, B., editor, Ritter, J., editor, Creutzig, U., editor, Keating, M., editor, and Plunkett, W., editor

Published
1998
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20. Biologic Determinants for AML Therapy

Author

German AML Cooperative Group, Haferlach, T., Löffler, H., Gassmann, W., Fonatsch, C., Schoch, C., Haase, D., Schlegelberger, B., Ludwig, W.-D., Thiel, E., Heinecke, A., Sauerland, M. C., Wörmann, B., Hiddemann, W., Büchner, Th., Hiddemann, W., editor, Büchner, T., editor, Wörmann, B., editor, Ritter, J., editor, Creutzig, U., editor, Keating, M., editor, and Plunkett, W., editor

Published
1998
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21. Clinical impact of GATA2 mutations in acute myeloid leukemia patients harboring CEBPA mutations: a study of the AML study group

Author

Theis, F, Corbacioglu, A, Gaidzik, V I, Paschka, P, Weber, D, Bullinger, L, Heuser, M, Ganser, A, Thol, F, Schlegelberger, B, Göhring, G, Köhne, C-H, Germing, U, Brossart, P, Horst, H-A, Haase, D, Götze, K, Ringhoffer, M, Fiedler, W, Nachbaur, D, Kindler, T, Held, G, Lübbert, M, Wattad, M, Salih, H R, Krauter, J, Döhner, H, Schlenk, R F, and Döhner, K

Published
2016
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22. Cytomorphology and Clinical Outcome in 80 Patients with AML M4Eo and Inversion 16

Author

Haferlach, T., Löffler, H., Bennett, J. M., Andersen, J. W., Gassmann, W., Schoch, R., Paietta, E., Cassileth, P. A., Fonatsch, C., Schoch, C., Schlegelberger, B., Becher, R., Thiel, E., Ludwig, W.-D., Sauerland, M. C., Heinecke, A., Büchner, T., Büchner, T., editor, Schellong, G., editor, Ritter, J., editor, Creutzig, U., editor, Hiddemann, W., editor, and Wörmann, B., editor

Published
1997
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26. Acute Myeloid Leukemia with Translocation (8;21). Cytomorphology, Dysplasia and Prognostic Factors in 41 Cases

Author

AML Cooperative Group and ECOG, Haferlach, T., Bennett, J. M., Löffler, H., Gassmann, W., Andersen, J., Tuzuner, N., Cassileth, P. A., Fonatsch, C., Schlegelberger, B., Thiel, E., Ludwig, W.-D., Sauerland, M. C., Heinecke, A., Büchner, Th., Hiddemann, W., editor, Plunkett, W., editor, Büchner, T., editor, Ritter, J., editor, Wörmann, B., editor, Keating, M. J., editor, and Creutzig, U., editor

Published
1996
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27. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo S. S., Pastor V. B., Goodings C., Voss R. K., Kozyra E. J., Szvetnik A., Noellke P., Dworzak M., Stary J., Locatelli F., Masetti R., Schmugge M., De Moerloose B., Catala A., Kallay K., Turkiewicz D., Hasle H., Buechner J., Jahnukainen K., Ussowicz M., Polychronopoulou S., Smith O. P., Fabri O., Barzilai S., de Haas V., Baumann I., Schwarz-Furlan S., Moerloose B. D., Smith O., Haas V. D., Gohring G., Niemeyer C., Nebral K., Simonitsch-Kluppp I., Paepe P. D., Van Roy N., Campr V., Zemanova Z., Clasen-Linde E., Plesner T., Schlegelberger B., Rudelius M., Manola K., Stefanaki K., Csomor J., Andrikovics H., Betts D., O'Sullivan M., Zohar Y., Jeison M., Vito R. D., Pasquali F., Maldyk J., Haus O., Alaiz H., Kjollerstrom P., Lemos L. M., Bodova I., Cermak M., Plank L., Gazic B., Kavcic M., Podgornik H., Ros M. L., Cervera J., Gengler C., Tchinda J., Beverloo B., Leguit R., Niewisch M. R., Sauer M. G., Burkhardt B., Lang P., Bader P., Beier R., Muller I., Albert M. H., Meisel R., Schulz A., Cario G., Panda P. K., Wehrle J., Hirabayashi S., Derecka M., Durruthy-Durruthy R., Yoshimi-Noellke A., Ku M., Lebrecht D., Erlacher M., Flotho C., Strahm B., Niemeyer C. M., Wlodarski M. W., Sahoo S.S., Pastor V.B., Goodings C., Voss R.K., Kozyra E.J., Szvetnik A., Noellke P., Dworzak M., Stary J., Locatelli F., Masetti R., Schmugge M., De Moerloose B., Catala A., Kallay K., Turkiewicz D., Hasle H., Buechner J., Jahnukainen K., Ussowicz M., Polychronopoulou S., Smith O.P., Fabri O., Barzilai S., de Haas V., Baumann I., Schwarz-Furlan S., Moerloose B.D., Smith O., Haas V.D., Gohring G., Niemeyer C., Nebral K., Simonitsch-Kluppp I., Paepe P.D., Van Roy N., Campr V., Zemanova Z., Clasen-Linde E., Plesner T., Schlegelberger B., Rudelius M., Manola K., Stefanaki K., Csomor J., Andrikovics H., Betts D., O'Sullivan M., Zohar Y., Jeison M., Vito R.D., Pasquali F., Maldyk J., Haus O., Alaiz H., Kjollerstrom P., Lemos L.M., Bodova I., Cermak M., Plank L., Gazic B., Kavcic M., Podgornik H., Ros M.L., Cervera J., Gengler C., Tchinda J., Beverloo B., Leguit R., Niewisch M.R., Sauer M.G., Burkhardt B., Lang P., Bader P., Beier R., Muller I., Albert M.H., Meisel R., Schulz A., Cario G., Panda P.K., Wehrle J., Hirabayashi S., Derecka M., Durruthy-Durruthy R., Yoshimi-Noellke A., Ku M., Lebrecht D., Erlacher M., Flotho C., Strahm B., Niemeyer C.M., Wlodarski M.W., and Clinical Genetics

Subjects
Oncology, Male, medicine.medical_specialty, Monosomy, Adolescent, Somatic cell, Medizin, Bone Marrow Cells, Kaplan-Meier Estimate, General Biochemistry, Genetics and Molecular Biology, Germline, Article, Clonal Evolution, Germline mutation, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Humans, Child, Germ-Line Mutation, Chromosome 7 (human), Cytopenia, clonal hemopoiesis, business.industry, Myelodysplastic syndromes, Tumor Suppressor Proteins, Intracellular Signaling Peptides and Proteins, High-Throughput Nucleotide Sequencing, Infant, General Medicine, medicine.disease, GATA2 Transcription Factor, SAMD9 and SAMD9L mutations, Pediatric Myelodysplastic syndromes, medicine.anatomical_structure, HEK293 Cells, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Myelodysplastic Syndromes, Female, Bone marrow, Clonal Hematopoiesis, Single-Cell Analysis, business
Abstract

Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9Lmut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9Lmut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9Lmut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9Lmut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9Lmut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9Lmut MDS and exemplify the exceptional plasticity of hematopoiesis in children. This analysis of a large, clinically annotated cohort of individuals with predisposition to myelodysplastic syndromes reveals insights into the genetic determinants of disease progression and their relationship with clinical manifestations and therapy outcome.

Published
2021

28. Clinical Aspects of Acute Myelogenous Leukemias of the FAB-Types M3 and M4Eo

Author

AML Cooperative Group, Löffrer, H., Gassmann, W., Jürgensen, C., Noak, J., Ludwig, W.-D., Thiel, E., Haase, D., Fonatsch, C., Becher, R., Schlegelberger, B., Nowrousian, M. R., Lengfelder, E., Eimermacher, H., Weh, H. J., Braumann, D., Maschmeyer, G., Haferlach, T., Koch, P., Heinecke, A., Sauerland, M. C., Büchner, T., Büchner, T., editor, Hiddemann, W., editor, Wörmann, B., editor, Schellong, G., editor, and Ritter, J., editor

Published
1994
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29. Prognostic effect of calreticulin mutations in patients with myelofibrosis after allogeneic hematopoietic stem cell transplantation

Author

Panagiota, V, Thol, F, Markus, B, Fehse, B, Alchalby, H, Badbaran, A, Lehmann, U, Koenecke, C, Shahswar, R, Chaturvedi, A, Stadler, M, Eder, M, Göhring, G, Koenigsmann, M, Kloos, A, Trummer, A, Schroeder, T, Kobbe, G, Thiede, C, Platzbecker, U, Schlegelberger, B, Kreipe, H-H, Ganser, A, Kröger, N, and Heuser, M

Published
2014
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31. Cancer Genetics Service Provision : A Comparison of Seven European Centres

Author

Hopwood, P., van Asperen, C.J., Borreani, G., Bourret, P., Decruyenaere, M., Dishon, S., Eisinger, F., Evans, D.G.R., Evers-Kiebooms, G., Gangeri, L., Hagoel, L., Legius, E., Nippert, I., Rennert, G., Schlegelberger, B., Sevilla, C., Sobol, H., Tibben, A., Welkenhuysen, M., and Julian-Reynier, C.

Published
2003

37. Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes (Nature Medicine, (2021), 27, 10, (1806-1817), 10.1038/s41591-021-01511-6)

Author

Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., and Wlodarski, M. W.

Subjects
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, SAMD9/SAMD9L syndromes
Published
2021

38. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., Wlodarski, M. W., Locatelli F. (ORCID:0000-0002-7976-3654), Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., Wlodarski, M. W., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9Lmut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9Lmut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9Lmut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9Lmut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9Lmut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9Lmut MDS and exemplify the exceptional plasticity of hematopoiesis in children.

Published
2021

39. SSBP2-CSF1R is a Recurrent Fusion in B-lineage Acute Lymphoblastic Leukaemia with Diverse Genetic Presentation and Variable Outcome

Author

Schwab, C, Roberts, K, Boer, J, Gohring, G, Steinemann, D, Vora, A, Macartney, C, Hough, R, Thorn, Z, Dillon, R, Escherich, G, Cazzaniga, G, Schlegelberger, B, Loh, M, Den Boer, M, Moorman, A, Harrison, C, Schwab, Claire J, Roberts, Kathryn G, Boer, Judith M, Gohring, Gudrun, Steinemann, Doris, Vora, Ajay, Macartney, Christine, Hough, Rachael Emma, Thorn, Zoe, Dillon, Richard, Escherich, Gabriele, Cazzaniga, Giovanni, Schlegelberger, Brigitte, Loh, Mignon L, Den Boer, Monique L, Moorman, Anthony V, Harrison, Christine J, Schwab, C, Roberts, K, Boer, J, Gohring, G, Steinemann, D, Vora, A, Macartney, C, Hough, R, Thorn, Z, Dillon, R, Escherich, G, Cazzaniga, G, Schlegelberger, B, Loh, M, Den Boer, M, Moorman, A, Harrison, C, Schwab, Claire J, Roberts, Kathryn G, Boer, Judith M, Gohring, Gudrun, Steinemann, Doris, Vora, Ajay, Macartney, Christine, Hough, Rachael Emma, Thorn, Zoe, Dillon, Richard, Escherich, Gabriele, Cazzaniga, Giovanni, Schlegelberger, Brigitte, Loh, Mignon L, Den Boer, Monique L, Moorman, Anthony V, and Harrison, Christine J

Published
2021

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