Publications by authors named "Inge Behroozfard"

3 Publications

  • Page 1 of 1

NUP98-NSD1 Driven MDS/MPN in Childhood Masquerading as JMML.

J Pediatr Hematol Oncol 2020 Aug 18. Epub 2020 Aug 18.

Department of Pediatrics, Benioff Children's Hospital.

Overlapping myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are clonal hematopoietic disorders with features of myelodysplasia and myeloproliferation. The only well-characterized MDS/MPN in children is juvenile myelomonocytic leukemia, an aggressive disorder of infants and toddlers. The biochemical hallmark of this disease is hyperactivation of the Ras/MAPK signaling pathway caused by mutations in Ras pathway genes in more than 90% of patients. Translocations involving receptor tyrosine kinases have been identified in rare cases. Here, we report a 2-year-old patient who presented with MDS/MPN driven by a cytogenetically cryptic NUP98-NSD1 fusion, a translocation thought to exclusively occur in patients with acute myeloid leukemia.
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http://dx.doi.org/10.1097/MPH.0000000000001913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7889745PMC
August 2020

Comparative RNA-seq analysis aids in diagnosis of a rare pediatric tumor.

Cold Spring Harb Mol Case Stud 2019 10 23;5(5). Epub 2019 Oct 23.

Department of Molecular, Cell and Developmental Biology, UC Santa Cruz Genomics Institute, Santa Cruz, California 95064, USA.

Gliomatosis peritonei is a rare pathologic finding that is associated with ovarian teratomas and malignant mixed germ cell tumors. The occurrence of gliomatosis as a mature glial implant can impart an improved prognosis to patients with immature ovarian teratoma, making prompt and accurate diagnosis important. We describe a case of recurrent immature teratoma in a 10-yr-old female patient, in which comparative analysis of the RNA sequencing gene expression data from the patient's tumor was used effectively to aid in the diagnosis of gliomatosis peritonei.
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http://dx.doi.org/10.1101/mcs.a004317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824255PMC
October 2019