Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Unresponsive Systemic Mastocytosis in a Young AML With RUNX1::RUNX1T1 Fusion With Rare KIT c.1255_1257delGAC Mutation: A Clinical Deadlock.

Journal of pediatric hematology/oncology - 1 Aug 2026

Balraam Kv Vinu, Nayak Amiya R, Dass Jasmita, Chauhan Richa, Viswanathan Ganesh K, Aggarwal Mukul, Kumar Pradeep, Dhawan Rishi, Seth Tulika, Mahapatra Manoranjan

Abstract excerpt

BACKGROUND: Systemic mastocytosis (SM) with associated acute myeloid leukemia (AML) is a rare malignancy usually linked to KIT p.D816V mutations. OBSERVATIONS: We report a 17-year-old female with RUNX1::RUNX1T1 -positive AML and florid mast cell proliferation harboring a rare KIT exon 8 deletion (p.Asp419del). Diagnosis required integration of morphology, immunophenotyping, and polymerase chain reaction, as...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Core Binding Factor Alpha 2 Subunit
Share to Fatal Outcome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Imatinib Mesylate

Share to Leukemia, Myeloid, Acute

Share to Mastocytosis, Systemic

Share to Oncogene Proteins, Fusion

Share to Proto-Oncogene Proteins c-kit

Share to RUNX1 Translocation Partner 1 Protein

Source

Identifiers

PMID: 42350332
DOI: 10.1097/MPH.0000000000003232

Genes

KIT
RUNX1
RUNX1T1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unresponsive Systemic Mastocytosis in a Young AML With RUNX1::RUNX1T1 Fusion With Rare KIT c.1255_1257delGAC Mutation: A Clinical Deadlock.PMID 42350332Read ↗

Detection of the KITD816V mutation in myelodysplastic and/or myeloproliferative neoplasms and acute myeloid leukemia with myelodysplasia-related changes predicts concurrent systemic mastocytosis.Semantic proximity Read ↗

KIT D816 mutated/CBF-negative acute myeloid leukemia: a poor-risk subtype associated with systemic mastocytosisSemantic proximity Read ↗

Advanced systemic mastocytosis: the impact of KIT mutations in diagnosis, treatment, and progression.Semantic proximity Read ↗

Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic MastocytosisSemantic proximity Read ↗

The prognostic impact of c-KIT mutation in systemic mastocytosis associated with acute myeloid leukaemia patients.Semantic proximity Read ↗

Utility of KIT Mutations in Myeloid Neoplasms Without Documented Systemic Mastocytosis to Detect Hidden Mast Cells in Bone Marrow.Semantic proximity Read ↗

Kit Mutations: New Insights and Diagnostic Value.Semantic proximity Read ↗

The clinical and molecular diversity of mast cell leukemia with or without associated hematologic neoplasm.Semantic proximity Read ↗

Diagnosis and management of mastocytosis: an emerging challenge in applied hematology.Semantic proximity Read ↗

Myeloid neoplasms with mutated KIT: comparative clinicopathologic analysis of D816 vs. non-D816 variants.Semantic proximity Read ↗

Mast cell sarcoma with KIT p.D816V mutation and concurrent systemic mastocytosis.Semantic proximity Read ↗

Clinical and Molecular Diagnostic Evaluation of Systemic Mastocytosis in the South-Eastern Hungarian Population Between 2001-2013--A Single Centre Experience.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.