Open AccessPrimary splenic histiocytic sarcoma associated with hemophagocytic lymphohistiocytosis: A case report and review of literature of next‐generation sequencing involving FLT3 , NOTCH2 , and KMT2A mutations
Author(s) -
Montalvo Nelson,
LaraEndara Jorge,
Redrobán Ligia,
Leiva María,
Armijos Christian,
Russo Leonardo
Publication year - 2022
Publication title -
cancer reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.261
H-Index - 5
ISSN - 2573-8348
DOI - 10.1002/cnr2.1496
Subject(s) - histiocytic sarcoma , histiocyte , hemophagocytosis , hemophagocytic lymphohistiocytosis , medicine , pathology , spleen , sarcoma , splenic marginal zone lymphoma , histiocytosis , splenectomy , bone marrow , immunology , pancytopenia , disease
Background Histiocytic sarcoma is a very rare monocyte/macrophage‐derived hematopoietic system tumor with a poor prognosis whose diagnosis is pathologically challenging due to its extreme rarity and histological overlap with various mimicking entities in which histiocytes also predominate. Case We report the case of a 33‐year‐old male patient with hemophagocytic lymphohistiocytosis, purpuric syndrome, and significant splenomegaly. The patient underwent splenectomy; subsequent macroscopic examination revealed a spleen weighing 2065 grams with hyperemic red pulp and multiple infarcts at the periphery. The histological and immunohistochemical study established a diagnosis of primary splenic histiocytic sarcoma with frequent hemophagocytosis. Next‐generation sequencing demonstrated mutations in FLT3, NOTCH2 , and KMT2A, microsatellite stability, and a tumor mutational burden of 2 mut/Mb. The patient's condition deteriorated clinically from the appearance of the first symptoms and he died 6 months later from multi‐organ failure. Conclusion Primary splenic histiocytic sarcoma is one of the rarest tumors of the hematopoietic system. We report the first case with mutations in FLT3, NOTCH2 , and KMT2A, and associated hemophagocytic lymphohistiocytosis.