Submitting Author: Greiner, Timothy C, MD
Institution: University of Nebraska Medical Center*
Additional authors:Radwa El-Behery MD*, Greg Bociek MD*, Phuong L. Nguyen MD (Mayo Clinic)
Session: Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1

History: The patient is a 24 year old male who developed drenching night sweats and bilateral neck fullness for two weeks. CBC: WBC 10.7, HGB 11.9, HCT 35.6, MCV 99 and PLT 234. Differential count: neutrophils 55%, lymphocytes 17%, monocytes 13%, eosinophils 13%, basophils 1%.

Physical Exam: lymphadenopathy and splenomegaly were identified

Therapy:

A. He received 6 cycles of Hyper-CVAD chemotherapy and had maintenance therapy

with methotrexate and 6-MP.

B. He relapsed two years later with both lymphoblastic lymphoma in a lymph node and

myeloid neoplasm in the bone marrow again as separate components.

C. He received an allogeneic bone marrow transplant after his second remission and is

alive with no evidence of the disease in January 2013 (CHIC2 neg bone marrow).

Left supraclavicular lymph node was biopsied and fixed in formalin. A staging iliac crest bone marrow biopsy was also done.

Microscopic: The lymph node shows intermediate size lymphoma cells with intermediate to fine chromatin. Single cell streaming is seen in the perinodal adipose tissue. No myeloid component was identified in the lymph node. The bone marrow was 90% cellular with myeloid hyperplasia with eosinophils. No lymphoblastic component was seen in the bone marrow.

Lymph node 2010 immunohistochemistry:

Positive: CD3, CD4 (weak), CD7, CD43, CD45, CD99, BCL2, CD1A, TDT

Negative: CD20, CD8, CD30, CD34, CD117, BCL6 and MPO

Bone Marrow 2010: Flow Cytometry showed no immunophenotypic abnormalities and no lymphoblasts

2010–Not done

Bone Marrow 2012

Karyotype: 46 XY

Neg: BCF-ABL, FGFR1, PDGFRB, ETV6 Rearrangement

Neg: KIT mutation

Pos: CH1C2 detection by FISH analysis in 85% of the nuclei in the 2012 bone marrow

and 98% of nuclei in the 2012 lymph node

The 2010 lymph node biopsy was then studied:

Pos for CHIC2 deletion in 94% of cells.

This patient developed simultaneously both a lymphoid and myeloid neoplasm associated with eosinophilia with a CHIC2 detection. The CHIC2 deletion indicates a FIP1L-1-PDGRFA fusion transcript as described in the 2008 WHO classification. The lymphoblastic lymphoma and the myeloid neoplasm occurred completely separately at presentation and recurred separately. Suspecting the possibility of the fusion transcript when eosinophilia accompanies a T-lymphoblastic lymphoma is important for considering tyrosine kinase inhibitor therapy.

Case Report References:

Capovilla M, et al. Synchronous FIP1L1-PDGFRA-positive chronic eosinophilic leukemia and T-cell lymphoblastic lymphoma: a bilineal clonal malignancy. European Journal of Haematology 2007;80:81-86.

Metzgeroth G, et al. Recurrent findings of the FIL1L1-PDGFRA fusion gene in eosinophilia associated acute myeloid leukemia and lymphoblastic T-cell lymphoma. Leukemia 2007;21:1183-1188.

Huang Q, et al. PDGFRA rearrangement leading to hyper-eosinophilia, T-lymphoblastic lymphoma, myeloproliferative neoplasm and precursor B-cell acute lymphoblastic lymphoma. Leukemia 2011;25:371-375.

Myeloid and lymphoid neoplasms with PDGFRA rearrangement

Myeloid and lymphoid neoplasm with FIP1L1-PDGFRA rearrangement, presenting with T-lymphoblastic lymphoma and myeloproliferative neoplasm with eosinophilia

Case 265