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Immunotherapy- (Blinatumomab-) Related Lineage Switch of KMT2A/AFF1 Rearranged B-Lymphoblastic Leukemia into Acute Myeloid Leukemia/Myeloid Sarcoma and Subsequently into B/Myeloid Mixed Phenotype…
A 40-year-old female with KMT2A/AFF1-rearranged B-ALL that was refractory to conventional chemotherapy following administration of blinatumomab developed a breast mass proven to be myeloid sarcoma, in addition to bone marrow involvement by AML.
Hyperhaploid plasma cell myeloma characterized by poor outcome and monosomy 17 with frequently co-occurring TP53 mutations
Hyperhaploid plasma cell myeloma characterized by poor outcome and monosomy 17 with frequently co-occurring TP53 mutations Jess F. Peterson, Ross A. Rowsey, Cherisse A. Marcou, Kathryn E. Pearce, Cynthia M. Williamson, Lori A. Williamson and Linda B. Baughn.
Cryptic and atypical KMT2A‐USP2 and KMT2A‐USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia
Targeted molecular approaches are suggested in genetically unresolved infant leukemia cases to characterize these prognostically relevant clones.
Clinical utility of fluorescence in situ hybridization‐based diagnosis of BCR‐ABL1 like (Philadelphia chromosome like) B‐acute lymphoblastic leukemia
This poster presents a poster presented at the 2016 American College of Hematology/Oncology Congress focusing on the development and management of central nervous system disorders in children and young adults.
Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia
Acute myeloid leukemia (AML) can be subtyped based on recurrent cytogenetic and molecular genetic abnormalities with diagnostic and prognostic significance. Although cytogenetic characterization…
Integration of microarray analysis into the clinical diagnosis of hematological malignancies: How much can we improve cytogenetic testing?
The integration of microarray analysis into the cytogenetic diagnosis of hematologic malignancies has the potential to improve patient management by providing clinicians with additional disease specific and potentially clinically actionable genomic alterations.
Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females
- Jess F Peterson, Lina Ghaloul-Gonzalez, S. Yatsenko
- MedicineAmerican journal of medical genetics. Part A
- 1 February 2014
A familial 2.15 Mb duplication in the 17q 23.1–q23.2 region is described, identified in a mother, daughter, and two sons with congenital clubfoot, which is a heterogeneous disorder that can result in functional disability, deformity, and pain if left untreated.
Mate pair sequencing outperforms fluorescence in situ hybridization in the genomic characterization of multiple myeloma
Fluorescence in situ hybridization (FISH) is currently the gold-standard assay to detect recurrent genomic abnormalities of prognostic significance in multiple myeloma (MM). Since most translocations…
KMT2A (MLL) rearrangements observed in pediatric/young adult T‐lymphoblastic leukemia/lymphoma: A 10‐year review from a single cytogenetic laboratory
T‐lymphoblastic leukemia/lymphoma (T‐ALL/LBL) accounts for approximately 15% of pediatric and 25% of adult ALL. While the underlying frequency of KMT2A (MLL) gene rearrangements has been identified…