Orbital extramedullary myeloid tumor, or granulocytic sarcoma, can be difficult to diagnose even with the use immunohistochemical stains, especially if it precedes the development of systemic leukemia. We describe a 6-year-old boy with a rapidly progressive orbital tumor. This patient underwent an orbital biopsy, which was consistent with extramedullary myeloid tumor but not conclusive. Cytogenetic studies on a bone marrow biopsy revealed a translocation consistent with acute myelogenous leukemia.
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http://dx.doi.org/10.1097/01.iop.0000203811.51764.ea | DOI Listing |
Cureus
December 2024
Department of Hematology, Hôpital Universitaire de Bruxelles (HUB) Institut Jules Bordet, Brussels, BEL.
Acute myeloid leukemia (AML) can be presented with extramedullary manifestations, more frequently involving skin and rarely other sites, such as the urinary tract. We report the case of a 37-year-old male patient with a history of testicular cancer who presented to the emergency department with cytopenias and hematuria. Bone marrow analysis diagnosed AML (French-American-British(FAB) classificationM4 subtype, karyotype showing inv16).
View Article and Find Full Text PDFHeliyon
January 2025
Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Acute myeloid leukemia is the expansion of leukemic stem cells which might originate from a stem cell or a progenitor which has acquired self-renewal capacity. An aggregation of leukemic blasts in bone marrow, peripheral blood, and extramedullary tissue will result in acute myeloid leukemia. The main difficulty in treating acute myeloid leukemia is multidrug resistance, leading to treatment failure.
View Article and Find Full Text PDFLeukemia
January 2025
Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation, Hannover Medical School, Hannover, Germany.
Off-label hypomethylating agents and venetoclax (HMA/VEN) are often used for relapsed and refractory (R/R) AML patients. However, predictors of outcome are elusive. The objective of the current retrospective observational multicenter study of 240 adult patients (median age 68.
View Article and Find Full Text PDFJAGN1 (Jagunal-homolog1) is a ER-resident transmembrane protein which is part of the early secretory pathway and granulocyte colony-stimulating factor receptor mediated signaling. Autosomal recessively inherited variants in the JAGN1 gene lead to congenital neutropenia, early-onset bacterial infections, aphthosis and skin abscesses due to aberrant differentiation and maturation of neutrophils. In addition, bone metabolism disorders and a syndromic phenotype, including facial features, short stature and neurodevelopmental delay, have been reported in affected patients.
View Article and Find Full Text PDFAnn Hematol
January 2025
Department of Biomedicine and Prevention, University Tor Vergata, Rome, Italy.
Myeloid sarcoma (MS) is an extramedullary localization of immature granulocyte cells that can occur in association with acute myeloid leukemia (AML). Gastrointestinal involvement is relatively common in MS, but exclusive colonic localization is a rare occurrence. Here, we report on a 53-year-old male patient affected by AML developing a severe abdominal pain caused by intestinal perforation requiring surgical intervention.
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