A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib

Authors: Boulouadnine, Boutaina ¹, Filser, Mathilde ², Leducq, Camille ¹, Losole, Taylor ³, Bies, Joshua ³, Smetsers, Stephanie ⁴, Kouwenberg, Dorus ⁴, de Lange, Iris ⁵, Mensenkamp, Arjen ⁶, Kordes, Uwe Richard ⁷, Minard-Colin, Véronique ⁸, Orbach, Daniel ⁹, Brichard, Bénédicte ¹⁰, de Krijger, Ronald ^{4, 11}, Masliah-Planchon, Julien ², Demoulin, Jean-Baptiste ^{1, ∗}

Source: In Genetics in Medicine February 2025 27(2)

Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study

Authors: Bakhuizen, Jette J, van Dijk, Freerk, Koudijs, Marco J, Bladergroen, Reno S, Bon, Sebastian B B, Hopman, Saskia M J, Kester, Lennart A, Kranendonk, Mariëtte E G, Loeffen, Jan L C, Smetsers, Stephanie E, Sonneveld, Edwin, Tachdjian, Melissa, de Vos-Kerkhof, Evelien, Goudie, Catherine, Merks, Johannes H M, Kuiper, Roland P, Jongmans, Marjolijn C J ^*

Source: In The Lancet Child & Adolescent Health October 2024 8(10):751-761

No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation

Authors: Bakhuizen, Jette J., Postema, Floor A.M., van Rijn, Rick R., van Schuppen, Joost, Duijkers, Floor A.M., van Noesel, Carel J.M., Hennekam, Raoul C., Jongmans, Marjolijn C.J., Savci-Heijink, C. Dilara, Smetsers, Stephanie E., Terheggen-Lagro, Suzanne W.J., Hopman, Saskia M.J., Oomen, Matthijs W.N., Merks, Johannes H.M.

Source: In Journal of Pediatric Surgery March 2024 59(3):459-463

Small cell osteosarcoma versus fusion-driven round cell sarcomas of bone: retrospective clinical, radiological, pathological, and (epi)genetic comparison with clinical implications.

Authors: Hiemcke-Jiwa, Laura S., Sumathi, Vaiyapuri P., Baumhoer, Daniel, Smetsers, Stephanie E., Haveman, Lianne M., van Noesel, Max M., van Langevelde, Kirsten, Cleven, Arjen H. G., van de Sande, Michiel A. J., ter Horst, Simone A. J., Kester, Lennart A., Flucke, Uta

Source: Virchows Archiv: European Journal of Pathology; Mar2024, Vol. 484 Issue 3, p451-463, 13p

ICL-induced miR139-3p and miR199a-3p have opposite roles in hematopoietic cell expansion and leukemic transformation

Authors: Alemdehy, Mir Farshid, Haanstra, Jurgen R., de Looper, Hans W.J., van Strien, Paulina M.H., Verhagen-Oldenampsen, Judith, Caljouw, Yvette, Sanders, Mathijs A., Hoogenboezem, Remco, de Ru, Arnoud H., Janssen, George M.C., Smetsers, Stephanie E., Bierings, Marc B., van Veelen, Peter A., von Lindern, Marieke, Touw, Ivo P. ^*, Erkeland, Stefan J. ^*

Source: In Blood 18 June 2015 125(25):3937-3948

Hyperphosphatemia in an 11-year-old girl with acute myeloid leukemia: Answers

Authors: Albersen, Monique, Bökenkamp, Arend, Schotman, Hans, Smetsers, Stephanie

Source: Pediatric nephrology. 34(4):627-629

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125313563.0x000001&indx=1&recIds=ETOCvdc_100125313563.0x000001

Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Patient Characteristics, Treatment, and Outcome—A Systematic Review.

Authors: Wens, Francis S. P. L., Hulsker, Caroline C. C., Fiocco, Marta, Zsiros, József, Smetsers, Stephanie E., de Krijger, Ronald R., van der Steeg, Alida F. W., Zweemer, Ronald P., Baas, Inge O., Roes, Eva Maria, Looijenga, Leendert H. J., Gerestein, Cornelis G., Mavinkurve-Groothuis, Annelies M. C.

Source: Cancers; Aug2023, Vol. 15 Issue 15, p3794, 14p

Subject Terms: HYPERCALCEMIA, MEDICAL databases, OVARIAN tumors, MEDICAL information storage & retrieval systems, SMALL cell carcinoma, SYSTEMATIC reviews, TREATMENT effectiveness, DESCRIPTIVE statistics, MEDLINE, SYMPTOMS

Predictors of outcomes in hematopoietic cell transplantation for Fanconi anemia

Authors: Cancio, Maria, Troullioud Lucas, Alexandre G., Bierings, Marc, Klein, Elizabeth, de Witte, Moniek A., Smiers, Frans J., Bresters, Dorine, Boelens, Jaap Jan, Smetsers, Stephanie E.

Source: Bone Marrow Transplantation; 20230101, Issue: Preprints p1-7, 7p

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.

Authors: Hettmer, Simone, Dachy, Guillaume, Seitz, Guido, Agaimy, Abbas, Duncan, Catriona, Jongmans, Marjolijn, Hirsch, Steffen, Kventsel, Iris, Kordes, Uwe, de Krijger, Ronald R., Metzler, Markus, Michaeli, Orli, Nemes, Karolina, Poluha, Anna, Ripperger, Tim, Russo, Alexandra, Smetsers, Stephanie, Sparber-Sauer, Monika, Stutz, Eveline, Bourdeaut, Franck

Source: Familial Cancer; Oct2021, Vol. 20 Issue 4, p327-336, 10p

Subject Terms: GENETIC testing, PROTEIN-tyrosine kinase inhibitors, SOMATIC mutation, SYMPTOMS, EPIDERMAL growth factor receptors, MEDICAL genetics, GENOMES

Hyperphosphatemia in an 11-year-old girl with acute myeloid leukemia: Questions

Authors: Albersen, Monique, Bökenkamp, Arend, Schotman, Hans, Smetsers, Stephanie

Source: Pediatric nephrology. 34(4):625-625

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125313568.0x000001&indx=1&recIds=ETOCvdc_100125313568.0x000001

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Hyperphosphatemia in an 11-year-old girl with acute myeloid leukemia: Answers.

Authors: Albersen, Monique, Bökenkamp, Arend, Schotman, Hans, Smetsers, Stephanie

Source: Pediatric Nephrology; Apr2019, Vol. 34 Issue 4, p627-629, 3p, 2 Charts

Subject Terms: ACUTE myeloid leukemia diagnosis, HYPERPHOSPHATEMIA, DIFFERENTIAL diagnosis, IMMUNOGLOBULINS, INGESTION, PHOSPHATES, SPECTROPHOTOMETRY, HUMAN growth hormone, DISEASE remission, CHILDREN, DIAGNOSIS

Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co‐occurring FANCC and CHEK2 mutations.

Authors: Berger, Gerbrig, Berg, Eva, Smetsers, Stephanie, Leegte, Beike K., Sijmons, Rolf H., Abbott, Kristin M., Mulder, André B., Vellenga, Edo

Source: British Journal of Haematology; Mar2019, Vol. 184 Issue 6, p1071-1073, 3p, 2 Charts

Subject Terms: MYELODYSPLASTIC syndromes, FAMILIES

Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.

Authors: Bakhuizen, Jette J., Hopman, Saskia M. J., Bosscha, Machteld I., Dommering, Charlotte J., van den Heuvel-Eibrink, Marry M., Hol, Janna A., Kester, Lennart A., Koudijs, Marco J., Langenberg, Karin P. S., Loeffen, Jan L. C., van der Lugt, Jasper, Moll, Annette C., van Noesel, Max M., Smetsers, Stephanie E., de Vos-Kerkhof, Evelien, Merks, Johannes H. M., Kuiper, Roland P., Jongmans, Marjolijn C. J.

Source: JAMA Network Open; 2/3/2023, Vol. 6 Issue 1, pe2254157-e2254157, 1p

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ICL-induced miR139-3pand miR199a-3phave opposite roles in hematopoietic cell expansion and leukemic transformation

Authors: Alemdehy, Mir Farshid, Haanstra, Jurgen R., de Looper, Hans W.J., van Strien, Paulina M.H., Verhagen-Oldenampsen, Judith, Caljouw, Yvette, Sanders, Mathijs A., Hoogenboezem, Remco, de Ru, Arnoud H., Janssen, George M.C., Smetsers, Stephanie E., Bierings, Marc B., van Veelen, Peter A., von Lindern, Marieke, Touw, Ivo P., Erkeland, Stefan J.

Source: Blood; June 2015, Vol. 125 Issue: 25 p3937-3948, 12p

Hyperphosphatemia in an 11-year-old girl with acute myeloid leukemia: Questions.

Authors: Albersen, Monique, Bökenkamp, Arend, Schotman, Hans, Smetsers, Stephanie

Source: Pediatric Nephrology; Apr2019, Vol. 34 Issue 4, p625-625, 1p, 1 Graph

Subject Terms: GRANULOCYTE-colony stimulating factor, POTASSIUM, ACUTE myeloid leukemia diagnosis, PULMONARY aspergillosis, HYPERPHOSPHATEMIA, AMPHOTERICIN B, BLOOD testing, BRONCHOALVEOLAR lavage, CREATININE, FEBRILE neutropenia, HYPOKALEMIA, MEDICAL protocols, PHOSPHATES, CHILDREN, DIAGNOSIS, THERAPEUTICS