A case involving a patient with a combined diagnosis of systemic mastocytosis (SM) and myelodysplastic syndrome has been recently published in the Indian Journal of Pathology and Microbiology.
SM is a disease in which an abnormal mast cell proliferation and activity leads to varied clinical manifestations involving multiple organs and systems. Common symptoms include constipation, skin rashes, urticaria, anxiety and headache. As many of these symptoms are not specific to one condition, diagnosis can be challenging.
Learn more about SM signs and symptoms
Myelodysplastic syndrome is a term referring to a group of diseases that have an abnormal function of the bone marrow due to a genetic mutation that affects the production of platelets, white blood cells (WBCs) or red blood cells (RBCs).
The case involved a 58-year old man that presented with weight loss, decreased WBC, RBCs and platelets, increased liver size (hepatomegaly), and reduced sensitivity in extremities. This constellation of symptoms was suggestive of hematological cancer.
Further workup revealed decreased vitamin B12 levels. After administration of folate and vitamin 12, cell counts improved mildly.
Bone marrow aspiration was remarkable for increased red blood cell precursor size (megaloblastic erythroid hyperplasia) and abnormal platelets (dysmegakaryopoiesis). Unexpectedly, the physicians observed scattered spindle-formed mast cells.
In light of the findings the physicians performed a bone marrow biopsy that showed a predominance of erythroid megaloblastic cells as well as nodes of spindle mast cells.
“Bone marrow biopsy (BMB) showed a hypercellular marrow with megaloblastic erythroid predominance with intertrabecular and paratrabecular diagnostic nodular lesions comprised of clusters of spindle‐shaped mast cells palisading the lymphocyte clusters, rimmed by eosinophils,” the authors wrote.
A genetic workup confirmed a negative result for typical myelodysplastic syndrome mutations as well as for c‐KIT D816V, typically observed in patients with SM.
Despite the result of genetic testing, the authors considered that the morphological features observed in bone marrow aspirate and biopsy along with positive cellular markers for SM was sufficient to make the diagnosis of SM with myelodysplastic syndrome.
