| Session: Mast cell disease |
| Case number: 235 |
Submitter(s): M. Atef Shrit
Clinical history
An 18 year old female admitted to the hospital for evaluation of large right ovarian mass. A 25 cm multilobated mass arising from the right ovary was found. During surgery, the left ovary was also involved by multiple calcified stone-like tumor nodules measuring up to 3 cm in greatest dimension. Right ovary, portion of left ovary and portion of omentum and peritoneum were resected. The tumor was diagnosed as gonadoblastoma with mixed germ cell tumor including yolk sac tumor, dysgerminoma and immature teratoma of right ovary. The left ovary showed gonadoblastoma. Metastatic yolk sac tumor was found in omentum and peritoneum. Patient received cisplatin-based chemotherapy. Serum alpha-fetoprotein, which was initially elevated, became normal after chemotherapy. Nine months later a second-look operation including completion left salpingo-oophorectomy and peritoneal biopsies showed no residual tumor. At that time, serum alpha-fetoprotein continued to be negative. The patient was considered cured of her disease. Three years after treatment for mixed germ cell tumor/gonadoblastoma, the patient presented with FUO, wheezing, rash, weight loss, flushing, hypertension, tachycardia, and diarrhea for one month. Repeated CBC showed progressive thrombocytopenia and anemia. LDH was markedly increased. Scattered schistocytes were seen. Initial diagnosis of microangiopathic hemolytic anemia/TTP was entertained. Pheochromocytoma/carcinoid tumor was suspected clinically. Octreotid tumor localization scan was negative for pheochromocytoma/carcinoid. However, PET scan showed extensive osseous metastatic disese. Splenomegaly was also present. Bone marrow examination was performed.
Details of gross/microscopic pathology:
Peripheral blood smear showed lukoerythroblastic reaction composed of mature and immature granulocytes, nucleated red blood cells and exceedingly rare blasts. No circulating mast cells were seen. Bone marrow aspirate showed dry tap. Touch prep showed atypical mast cells, many of which show lobated nuclei and large cytoplasmic granules. 300 cell count performed on touch prep demonstrated 91% mast cells, 1% lymphocytes, 2% erythroids and 6% myeloids. Bone marrow biopsy was replaced by sheets of neoplastic cells with convoluted nuclei and clear cytoplasm. Brisk mitosis was noted. Extensive tumor necrosis was present. Normal hematopoiesis was virtually absent.
Immunophenotype (flow cytometry/immunohistochemistry):
Mast cells were negative for myeloperoxidase. An extensive panel of immunoperoxidase stains was applied. Neoplastic cells were positive for mic-2 (CD99), c-kit (CD117), CD57 and tryptase. The neoplastic cells were negative for CD43, LCA,k CD34, PLAP, lysozyme, CD68, cytokeratin, Chromogranin, NSE, CD56, myeloperoxidase and hemoglobin.
Cytogenetics:
N/A.
Molecular analysis:
FISH study performed on touch prep material showed ""nuc ish(5'EWSR1x2,3'EWSR1x3 (5'EWSR1 con 3 'EWSR1x2) [44/225]"". The findings were interpreted as ""atypical positive FISH assay for break apart rearrangement of EWSR1.
Interesting feature(s) of submitted case:
Proposed diagnosis:
Mast cell leukemia, aleukemic variant. Mast cell count 91%
Panel diagnosis:
agree with proposed diagnosis
Comments:
Studies performed by the panel: CD25-
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