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Familial platelet disorder due to germline exonic deletions in RUNX1 : a diagnostic challenge with distinct alterations of the transcript isoform equilibrium

Engvall, Marie (author)
Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi,Uppsala Univ, Sweden,Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
Karlsson, Ylva (author)
Uppsala universitet,Institutionen för immunologi, genetik och patologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden,Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
Kuchinskaya, Ekaterina, 1973- (author)
Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik,Department of Clinical Pathology and Clinical Genetics, and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden
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Jörnegren, Åsa (author)
Örebro Univ Hosp, Dept Pediat, Örebro, Sweden.,Department of Pediatrics, Örebro University Hospital, Örebro, Sweden
Mathot, Lucy (author)
Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi,Uppsala Univ, Sweden,Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
Pandzic, Tatjana (author)
Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi,Uppsala Univ, Sweden,Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
Palle, Josefine, 1964- (author)
Uppsala universitet,Barnonkologisk och neurologisk forskning,Uppsala Univ, Sweden,Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden
Ljungström, Viktor, 1986- (author)
Uppsala universitet,Science for Life Laboratory, SciLifeLab,Cancerprecisionsmedicin,Uppsala Univ, Sweden,Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
Cavelier, Lucia (author)
Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi,Uppsala Univ, Sweden,Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
Lindberg, Eva Hellström (author)
Karolinska Institutet,Department of Medicine, Division of Hematology, Huddinge, Karolinska University Hospital, Stockholm, Sweden;Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden
Cammenga, Jörg, 1969- (author)
Linköpings universitet,Avdelningen för kirurgi, ortopedi och onkologi,Medicinska fakulteten,Region Östergötland, Hematologiska kliniken US,Department of Hematology, Linköping University Hospital, Linköping, Sweden;Department of Molecular Medicine and Virology (MMV), Division of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, Sweden
Baliakas, Panagiotis, 1977- (author)
Uppsala universitet,Science for Life Laboratory, SciLifeLab,Cancerprecisionsmedicin,Uppsala Univ, Sweden,Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
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 (creator_code:org_t)
2022-05-09
2022
English.
In: Leukemia and Lymphoma. - : Taylor & Francis Group. - 1042-8194 .- 1029-2403. ; 63:10, s. 2311-2320
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Germline pathogenic variants in RUNX1 are associated with familial platelet disorder with predisposition to myeloid malignancies (FPD/MM) with intragenic deletions in RUNX1 accounting for almost 7% of all reported variants. We present two new pedigrees with FPD/MM carrying two different germline RUNX1 intragenic deletions. The aforementioned deletions encompass exons 1-2 and 9-10 respectively, with the exon 9-10 deletion being previously unreported. RNA sequencing of patients carrying the exon 9-10 deletion revealed a fusion with LINC00160 resulting in a change in the 3 ' sequence of RUNX1. Expression analysis of the transcript isoform demonstrated altered RUNX1a/b/c ratios in carriers from both families compared to controls. Our data provide evidence on the impact of intragenic RUNX1 deletions on transcript isoform expression and highlight the importance of routinely performing copy number variant analysis in patients with suspected MM with germline predisposition.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Hematologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Hematology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)

Keyword

RUNX1 deletions
thrombocytopenia
FPD
MM
leukemia

Publication and Content Type

ref (subject category)
art (subject category)

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