| Session: Mast cell disease |
| Case number: 050 |
Submitter(s): Kai Zhang.
Clinical history
This 33-year-old white female with a past medical history significant for ""celiac disease"" diagnosed in 1999 by histopathology. She was referred for evaluation of bilateral constant lower extremity pain in 2001. PE: tenderness present over the muscles of her lower extremities bilaterally, most prominent in her quadriceps muscles. MRI: marrow signal abnormalities noted on both the diaphyses and shafts of the femurs as well as the tibia and fibula bilaterally, suggestive of either a bone infarction versus a bone marrow replacing disease such as leukemia. Subsequently BM Bx established diagnosis (Dx) of systemic mastocytosis (SM) in 2002 associated with elevated serum tryptase. She was treated with Cromolyn sodium and Ranitidine HCL, and her symptoms were improved. In late of 2006, her symptoms come back with skin itching and bone pain. BM bx showed persistent SM and elevated serum tryptase. C-kit mutation done on BM aspirate sampling and the result was negative for mutation. The patient is currently treated with Trazodone HCL, Predisone, Cromolyn sodium and Gleevec and her medical condition is stable thus far.
Details of gross/microscopic pathology:
BM Bx in 11/2001: Normal blood film and BM aspirate; and BM core: Occasional small ""granulomas"" observed; and negative stains for fungal and mycobacteria organisms. Final Dx: Granulomas. Note: missed the diagnosis of systemic mastocytosis (SM); retrospective studies including immunostain, CD117 showed clusters of epitheloid-like/spindle cells with CD117-positive, confirming Dx of SM. BM Bx in 2/02 (two months later): Identical epitheloid-like/spindle cell lesion as seen in prior BM Bx; and further work up including immunostain of CD117 confirmed the diagnosis of SM. Five years later, in 2006, due to the clinical progression, BM bx obtained and showed persistent SM in BM. Review of duodenal Bx in 1999 showed: No increased CD117+ mast cells and histopathologic findings consistent with ""celiac disease"".
Immunophenotype (flow cytometry/immunohistochemistry):
CD117 stain confimred the Dx of SM.
Cytogenetics:
BM aspirate: Normal karyotypes, XX.
Molecular analysis:
c-kit mutatation (exon 11/V560G) and exon 17/D816V was negative by sequence analysis (cell based on the bone marrow aspirate sampling).
Interesting feature(s) of submitted case:
1. Diagnostic challenges: Missed Dx at first BM Bx due to subtle lesions and not ""sensitive"" enough due to very low incidence of the disease at daily practice. 2. Not certain ""celiac disease"" prior to the diagnosis of SM related to SM. No increased CD117+ mast cells in duodenal Bx and cluster of mast cells were absent. However the symptoms presumably related to ""celiac diasese"" were improved significantly after treatment with mast cell stabilizer Cromolyn sodium 100 MG/5ML PO. GI symptoms are common in SM with or without tumor mast cell infiltrates according to the published papers.3. Response to Gleevec so far in terms of decreased clinical symptoms.
Proposed diagnosis:
Systemic mastocytosis with clinical progression.
Panel diagnosis:
agree with proposed diagnosis
Comments:
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