A recent case report presented at the Society of Hematologic Oncology Fourteenth Annual Meeting describes a 69-year old man with KIT-negative systemic mastocytosis with an associated hematologic neoplasm (SM-AHN) who experienced severe blood loss and organ failure even though he initially seemed to have a low disease burden. The case highlights how unpredictable SM-AHN can be.
The patient initially presented with a higher-than-normal level of white blood cells. He had high blood pressure, a history of tobacco use, persistent hoarseness and a thoracic aortic aneurysm, which is a bulge in the main artery in the chest.
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A bone marrow biopsyBone marrow biopsy A procedure to collect a sample of bone marrow using a needle. Often used to examine the characteristics of mast cells and diagnose SM. revealed hypercellularity, meaning there were more blood-producing cells in the bone marrow than expected. Biopsy also confirmed the presence of myelofibrosis, a type of bone marrow cancer that causes scarring.
Genetic testing uncovered a mutation in the JAK2 gene, which is linked with blood cancers, including primary myelofibrosis. However, the man did not have the D816V mutation in the KIT gene, which is the most common cause of SM.
Together, the bone marrow biopsy and genetic testing results established a diagnosis of KIT-negative SM-AHN associated with JAK2-mutated primary myelofibrosis.
Because the individual initially had a low disease burden, the care team recommended a watch-and-wait approach to care. However, he soon developed fever, low oxygen levels, shortness of breath and increased white blood cells counts requiring admission to the intensive care unit.
Further testing indicated he may have had pneumonia caused by white blood cell-driven inflammation that seemed to arise secondary to SM-AHN.
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The patient later developed blood loss so severe that his body couldn’t get enough oxygen (called hemorrhagic shock). This was believed to be caused by a rupture in the spleen, which required emergency surgery. In total, the individual required over 40 units of blood products.
Despite the team’s aggressive approach to treating the hemorrhage, the patient developed multi-organ failure. Ultimately, he was transitioned to comfort care with the aim of alleviating pain or other symptoms.
“This case highlights the aggressive and heterogeneous nature of KIT-negative SM-AHN and underscores the importance of integrated morphologic and molecular evaluation for accurate diagnosis, prognostication, and management,” the authors concluded.
