| Session: Extramedullary manifestation of neoplastic myeloid disorder |
| Case number: 101 |
Submitter(s): David Grier, Samer Al-Quran, Ying Li, Brian Gray, Raul Braylan.
Clinical history
44 year-old-female who presented to an outside ER with a two-day history of "refusing to talk" and a one-day history of decreased movement. She had no history of malignancy and had a recent past medical history of being treated for otitis media. Her medications included broad spectrum antibiotics and ciprofloxacin otic drops. On admission her CBC with differential was as follows: WBC 4.5 thousand/cu mm, RBC 4.6 million/cu mm, hematocrit 33.3%, hemoglobin 11.1g/dL, platelets 450 thousand/cumm, 87.4% neutrophils, 8.8% lymphocytes, 2.7% monocytes, 0.4% eosinophils, 0.1% basophils.
An MRI revealed a large contrast enhancing left sided middle cranial fossa mass with extension inferiorly into the subtemporal fossa and parapharyngeal space.[figure1] The radiologist's differential diagnosis included meningeal sarcoma, atypical meningioma, undifferentiated sinonasal cancer, and lymphoma. A needle core biopsy was done, but was non-diagnostic. A subtotal debulking surgery was performed.
Details of gross/microscopic pathology:
The cytospin and touch preparations demonstrated a monomorphous population of atypical mononuclear cells with a high N:C ratio, vacuolated cytoplasm, and prominent nucleoli.[figure2]Occasional cells had cytoplasmic granules. Histological sections showed a diffuse proliferation of large cells with high N:C ratios, irregular nuclear contours, prominent nucleoli, and open chromatin. Single cell necrosis was seen.[figure3]
Immunophenotype (flow cytometry/immunohistochemistry):
Cells were MPO(+) by cytochemistry.[figure4]By flow cytometry an abnormal population of CD34(+), CD13(+), CD33(+), CD117(+), CD20(-), CD10(-) blasts were detected. There was aberrant expression of CD19 and partial expression of CD56.[figure5]The blasts were CD117(+) by immunohistochemistry.[figure6]
Cytogenetics:
By conventional G-banding techniques, the chromosome abnormalities observed were characterized as a three way translocation involving chromosome 8, chromosome 21, and chromosome 12 (breakpoints 8q22, 21q22, and 12q21).There was also loss of a X chromosome.: 45, X,-X,t(8;21;12)(q22;q22;q21)[10]/46,XX[5][figure7]FISH studies revealed an abnormal metaphase cells demonstrated a dual fusion ETO/AML1 DNA probe signal pattern positioned on the derivative chromosome 12 and the derivative chromosome 21.[figure8]Interphase FISH demonstrated a dual fusion ETO/AML1 DNA probe signal pattern consistent with the presence of a 8/21 chromosomal translocation.[figure9]
Molecular analysis:
Interesting feature(s) of submitted case:
This is a case of intracranial myeloid sarcoma. Intracranial involvement is unusual for this type of neoplasia. Clinically there was a high suspicion for a large B-cell lymphoma. Cytogenetics revealed a complex translocation (8;12;21), a variant of t(8;21), which has not been previously described in myeloid sarcoma.
Proposed diagnosis:
Intracranial myeloid sarcoma.
Panel diagnosis:
agree with proposed diagnosis
Comments:
Stains performed by the panel: PAX5+, CD79a weakly+, MPO+, NPM + in cytoplasm
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