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.
- 1AMPATH Laboratory, Hyderabad, Telangana, India.
- 2American Oncology Institute (AOI), Hyderabad, Telangana, India.
Abstract
Introduction
Myeloid 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
We 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
This 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.
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BibTeX
@article{kunda2026acute,
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.}},
author = {Surya Prakash Rao Kunda and Sambasivarao Patibandla and Rajesh Mallik Gottipati and Sachin Johari and Mukkanteswararao Kasaragadda and Kiran Kg and Shalini Singh},
journal = {Leukemia research reports},
year = {2026},
month = oct,
doi = {10.1016/j.lrr.2026.100617},
url = {https://europepmc.org/article/MED/42903666},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - 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.
AU - Surya Prakash Rao Kunda
AU - Sambasivarao Patibandla
AU - Rajesh Mallik Gottipati
AU - Sachin Johari
AU - Mukkanteswararao Kasaragadda
AU - Kiran Kg
AU - Shalini Singh
PY - 2026
DA - 2026/10/10
JO - Leukemia research reports
DO - 10.1016/j.lrr.2026.100617
UR - https://europepmc.org/article/MED/42903666
AB - Introduction Myeloid 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 We 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 This 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.
SN - 2213-0489
ER -