{
  "abstract": "Introduction\n\nMyeloid neoplasms harboring t(8;22)(p11;q11)/BCR::FGFR1 rearrangement are exceptionally rare and are typically associated with aggressive clinical behavior. The coexistence of trisomy 8 with concurrent RUNX1 and STAG2 mutations in this cytogenetic context has not been systematically described.Case presentation\n\nWe report a 71-year-old female who presented with fever, dysuria, cough, shortness of breath, and melaena. Initial laboratory evaluation revealed anemia, leukocytosis, and severe thrombocytopenia, with approximately 60% peripheral circulating blasts. Bone marrow examination demonstrated 78% blasts with monocytic morphology. Flow cytometry identified an abnormal blast population (∼87% of viable events) expressing CD33 and CD64 with variable CD13, CD38, HLA-DR, CD11c, and CD15, and a small subset positive for cytoplasmic myeloperoxidase, consistent with acute monocytic leukemia. Conventional cytogenetics revealed 47,XX,+8,t(8;22)(p11;q11). Targeted next-generation sequencing detected a BCR::FGFR1 fusion along with a likely pathogenic RUNX1 missense mutation affecting the Runt homology domain and a loss-of-function STAG2 frameshift mutation. The patient was treated with azacitidine and venetoclax, achieving early hematologic response with clearance of circulating blasts.Conclusion\n\nThis case highlights a rare presentation of acute monocytic leukemia with trisomy 8 and t(8;22)(p11;q11)/BCR::FGFR1 rearrangement harboring concurrent RUNX1 and STAG2 mutations. These findings expand the molecular spectrum of FGFR1-rearranged neoplasms and underscore the value of integrated cytogenetic and molecular diagnostics in defining uncommon AML presentations.",
  "abstract_shown": true,
  "affiliations": [
    "AMPATH Laboratory, Hyderabad, Telangana, India.",
    "American Oncology Institute (AOI), Hyderabad, Telangana, India."
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Surya Prakash Rao Kunda"
    },
    {
      "affs": [
        0
      ],
      "name": "Sambasivarao Patibandla"
    },
    {
      "affs": [
        1
      ],
      "name": "Rajesh Mallik Gottipati"
    },
    {
      "affs": [
        0
      ],
      "name": "Sachin Johari"
    },
    {
      "affs": [
        0
      ],
      "name": "Mukkanteswararao Kasaragadda"
    },
    {
      "affs": [
        0
      ],
      "name": "Kiran Kg"
    },
    {
      "affs": [
        0
      ],
      "name": "Shalini Singh"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/6h1yk7xvymmrf.bib",
  "cited_by": 0,
  "doi": "10.1016/j.lrr.2026.100617",
  "fulltext_url": "https://europepmc.org/articles/PMC13682022",
  "id": "6h1yk7xvymmrf",
  "issns": [
    "2213-0489"
  ],
  "landing_url": "https://europepmc.org/article/MED/42903666",
  "language": "eng",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2720|Acute Myeloid Leukemia Research"
    ]
  ],
  "openalex": "W7221323779",
  "pdf_url": "https://europepmc.org/articles/PMC13682022?pdf=render",
  "pmcid": "PMC13682022",
  "pmid": "42903666",
  "published": "2026-10-10",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/6h1yk7xvymmrf.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:53Z",
      "native_id": "MED:42903666",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42903666"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2720|Acute Myeloid Leukemia Research",
      "subfield": "general"
    }
  ],
  "title": "Acute monocytic leukemia with t(8;22)(p11;q11)/BCR::FGFR1, trisomy 8, and concurrent RUNX1/STAG2 mutations: A rare case report and literature review.",
  "title_text": "Acute monocytic leukemia with t(8;22)(p11;q11)/BCR::FGFR1, trisomy 8, and concurrent RUNX1/STAG2 mutations: A rare case report and literature review.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:19:53Z",
  "url": "https://research.draconitic.com/paper/6h1yk7xvymmrf",
  "venue": "Leukemia research reports",
  "versions": []
}