| Session: Myelodysplastic syndrome |
| Case number: 191 |
Submitter(s): Raavi Gupta, Bachir Alobeid, Govind Bhagat.
Clinical history
82-year-old male with past medical history of hypertension, coronary artery disease, gout and chronic renal insufficiency, presented with new onset thrombocytopenia, rectal bleeding, hypoproliferative anemia (reticulocyte count 0.2) and decreased vitamin B-12 stores, not responsive to therapy. There was no history of malignancy or prior chemotherapy. Bone marrow biopsy was diagnosed as Refractory cytopenia with multilineage dysplasia with atypical lymphoid aggregates consistent with marginal zone B-cell lymphoma. Cytogenetics revealed complex karyotypic abnormality by G-banding and IgH rearrangement by PCR. Patient was treated with anti-CD20 therapy but continued to have persistent thrombocytopenia. Another biopsy one month later showed similar changes. Patient recieved 1 cycle of Azacytidine and erythropoietin. 3 months later he presented with fever and increased LDH. Bone marrow biopsy was performed (submitted case). CBC: WBC: 18x10*9/l, RBC: 3.08x10*12/l, HGB: 8.9g/dl, MCV: 80.8 fl, MCHC 35.7 g/dl, PLT: 78x10*9/l.
Details of gross/microscopic pathology:
Hypercellular marrow (90%) with left shifted myeloid elements. Moderate erythroid hyperplasia with megaloblastoid changes and dyserythropoiesis. Marked megakaryocytic hyperplasia and dysplasia.
Immunophenotype (flow cytometry/immunohistochemistry):
Numerous intermediate to large blast like cells were identified(CD34-) some of them appear to express CD61, suggestive of megakaryoblasts.
Flow cytometry did not detect any increase in CD34+ blast cells.
Cytogenetics:
44,45,XY,del(4)(q31.3),5,7,add(9)(p13),add(9)(hsr)(p23),del(12)(q22),add(17)(p11.2),del(18)(q21),der(19)t(7;19)(q22;p13.3)hsr(p22),der(19)t(19;21)(p13.2;q11.2),der(21)t(19;21)(p12;p11.2),add(22)(p11.2),+1mar[cp15]/80-86,<4N>,XXYY,idemx2[cp3]/46,XY[2].
Patient acquired additional changes in the present specimen consistent with cytogenetic progression.
Molecular analysis:
POSITIVE for IgH gene rearrangement.
Interesting feature(s) of submitted case:
Relatively rapid progression of disease and cytogenetic abnormalities with marked fibrosis, features suggestive of acute panmyelosis with myelofibrosis?
Proposed diagnosis:
High grade myelodysplastic syndrome/?acute panmyelosis with myelofibrosis.
Panel diagnosis:
Features suggestive of acute panmyelosis with myelofibrosis
Comments:
Stains performed by the panel: CD42b highlights numerous megakaryocytes, reticulin fibrosis 2+. Additional information from the submitter: On 8/22/06 Reported final karyotype: 44-46,XY,-5,-7,add(9)(p21),+del(12)(q13.2q23),-17X2,i(18)(q10),-19,add(21)(p11.2)x2,-22, +1-5mar[cp14]/89-97,<4N>,XXYY,idemx2,+1-12mar[cp5]/46,XY[1] On 9/29/06 Reported final karyotype: 45-46,XY,del(5)(q13q34),+del(5)(q12q34),del(7)(q22q33)hsr(q21),-17x2,+der(19)hsr(q12), -21,der(21)t(17;21)(q11.2;p11.2),-22,+1-3mar[cp15]/88-89,<4N>,XXYY,idemx2[cp3]/ 46,XY[2] On 12/15/06 Reported final karyotype: 44-45,XY,del(4)(q31.3),-5,-7,add(9)(p13),add(9)(hsr)(p23),del(12)(q22),add(17)(p11.2), del(18)(q21),der(19)t(7;19)(q22;p13.3)hsr(p22),der(19)t(19;21)(p13.2;q11.2), der(21)t(19;21)(p12;p11.2),add(22)(p11.2),+1mar[cp15]/80-86,<4N>,XXYY,idemx2[cp3]/ 46,XY[2]
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