Case 337

Submitting Author: McClure, Rebecca Frances, MD
Institution: Mayo Clinic
Additional authors:Rhett P. Ketterling MD
Session: AML with myelodysplasia-related changes

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HISTORY

59 yo female, 8 yr Hx non-insulin dependent diabetes mellitus

Medications: Actos (oral thiazolidinedione), BYETTA (injectable blood sugar control), Lisinopril (ACE-inhibitor)

6/2012 – “losing stamina while dancing”

Hb 7.2 g/dL

WBC 1.6 x109/L

Plt 100 x109/L

Bone marrow: “fairly normal”, MPN-like megakaryocytes

Flow: normal

Karyotype: normal

MDS FISH: normal

Dx: Chronic myeloid neoplasm, NOS

8/2012

Hb 7.4 g/dL

WBC 1.7 x109/L

Plt 95 x109/L

Blood: Circulating neutrophil and RBC precursors

BM: 60% cellular, increased neutrophils, increased megakaryocytes

(MPN-like), gr1 reticulin, no increase in blasts

Flow: normal

Karyotype: 46,XX,inv(3)(p21q27)[3]/46,XX[17]

FISH: RPN1/MECOM in 7% nuclei (MECOM=EVI1)

JAK2 V617F: negative

MPL exon 10: negative

Dx: Chronic myeloid neoplasm, NOS

DETAILS

11/2012 - Specimen for case presentation

Hb 8.6 g/dL

WBC 1.7 x109/L

Plt 122 x109/L

Blood: circulating neutrophil and RBC precursors, 15% circulating blasts

BM aspirate: sparsely cellular, 18-21% blasts on Bx touch prep, ring

sideroblasts

BM Bx: 60% cellular, increased megakaryocytes

(MPN/MDS-like & ? megakaryoblasts), decreased RBC precursors,

intrasinusoidal hematopoiesis, gr1 reticulin fibrosis

IMMUNOHISTOCHEMISTRY AND FLOW CYTOMETRY

Immunoperoxidase stains:

CD61 marked increase,

CD34 borderline increase

, CD117 moderate increase

Flow: Blasts 15% - express CD13, CD34, CD117, HLA-DR, CD45(dim), CD5(dim), CD7(dim)

CYTOGENETIC FINDINGS

Karyotype: 46,XX,der(3)inv(3)(p21q27)inv(3)(p21q26.2)[16]/46,XX[4]

complex rearrangement of chromosome 3 in 16 metaphases

FISH: RPN1/MECOM in 36% nuclei (MECOM=EVI1)

INTERESTING FEATURES

Tracked progression of evolving inv(3) from relatively normal to AML

Classification dilemma when have inv(3) with increased blast <20%

Nicely demonstrates mixed myeloproliferative/myelodysplastic features frequently seen with this genetic abnormality

Unusual inv(3) abnormality

PROPOSED DIAGNOSIS

Acute myelogenous leukemia with inv(3)(q21q26.2);RPN1-EVI1

arising from a prior chronic mixed myeloproliferative/myelodysplastic neoplasm, NOS

(favored)

or

mixed myeloproliferative/myelodysplastic neoplasm, unclassifiable

with increased blasts

CONSENSUS DIAGNOSIS

Acute myelogenous leukemia with myelodysplasia-related changes, with inv(3)(q21q26.2);RPN1-EVI1,

arising from myeloproliferative/myelodysplastic neoplasm