% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Erlacher:278591,
      author       = {M. Erlacher$^*$ and F. Andresen and M. Sukova and J. Stary
                      and B. De Moerloose and J. v. d. W. T. Bosch and M. Dworzak
                      and M. G. Seidel and S. Polychronopoulou and R. Beier and C.
                      M. Kratz and M. Nathrath and M. C. Frühwald and G. Göhring
                      and A. K. Bergmann and C. Mayerhofer and D. Lebrecht and S.
                      Ramamoorthy and A. Yoshimi and B. Strahm and M. W. Wlodarski
                      and C. M. Niemeyer$^*$},
      title        = {{S}pontaneous remission and loss of monosomy 7: a window of
                      opportunity for young children with {SAMD}9{L} syndrome.},
      journal      = {Haematologica},
      volume       = {109},
      number       = {2},
      issn         = {0390-6078},
      address      = {Pavia},
      publisher    = {Ferrata Storti Foundation},
      reportid     = {DKFZ-2023-01672},
      pages        = {422-430},
      year         = {2024},
      note         = {2024 Feb 1;109(2):422-430},
      abstract     = {Monosomy 7 is the most common cytogenetic abnormality in
                      pediatric myelodysplastic syndrome (MDS) and associated with
                      a high risk of disease progression. However, in young
                      children, spontaneous loss of monosomy 7 with concomitant
                      hematologic recovery has been described, especially in the
                      presence of germline mutations in SAMD9 and SAMD9L genes.
                      Here, we report on our experience of close surveillance
                      instead of upfront hematopoietic stem cell transplantation
                      (HSCT) in seven patients diagnosed with SAMD9L syndrome and
                      monosomy 7 at a median age of 0.6 years (0.4-2.9). Within 14
                      months from diagnosis, three children experienced
                      spontaneous hematological remission accompanied by a
                      decrease in monosomy 7 clone size. Subclones with somatic
                      SAMD9L mutations in cis were identified in five patients,
                      three of whom attained hematological remission. Two patients
                      acquired RUNX1 and EZH2 mutations during the observation
                      period, of whom one progressed to MDS with excess of blasts
                      (MDS-EB). Four patients underwent allogeneic HSCT at a
                      median time of 26 months (14-40) from diagnosis for MDS-EB,
                      necrotizing granulomatous lymphadenitis, persistent monosomy
                      7, and severe neutropenia. At last follow-up, six patients
                      were alive, while one passed away due to transplant-related
                      causes. These data confirm previous observations that
                      monosomy 7 can be transient in young children with SAMD9L
                      syndrome. However, they also indicate that delaying HSCT
                      poses a substantial risk of severe infection and disease
                      progression. Finally, surveillance of patients with SAMD9L
                      syndrome and monosomy 7 is critical to define the evolving
                      genetic landscape and to determine the appropriate timing of
                      HSCT.},
      cin          = {FR01},
      ddc          = {610},
      cid          = {I:(DE-He78)FR01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37584291},
      doi          = {10.3324/haematol.2023.283591},
      url          = {https://inrepo02.dkfz.de/record/278591},
}