Submitting Author: Orduz, Y. Rocio, MD
Institution: Clinica Colsanitas, S.A.
Additional authors:Edwin Medina, Maria Teresa Urrego, Monica Zapata, Johanna Echeverry, Maria Consuelo Gonzalez, Jose Maria Sayaguez, Roberto Miranda
Session: Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1

In 2010 a 40-year-old female consulted for generalized and painful adenopathy and malaise. No fever

Laboratory data: Leukocytosis, left shift and eosinophilia > 1.5 x 109/L were found.

All the viral studies were done and only an EBV IgM (+) was detected.

The patient received 6 cycles CHOP + Interferon. She obtained clinical remission

Allogeneic BM transplant in 12/2010 was done.

She is alive and in remission since then.

Cervical lymph node biopsy and bone marrow biopsy were done.

Buffered formalin for fixation of both samples was used and EDTA for the BM decalcification

. Bone marrow smear is dilute.

Bone marrow biopsy was very short and not possible to evaluate.

In the lymph node biopsy there is a paracortical expansion with immature lymphoid cells and eosinophilia. However, there are other areas of myeloid immature cells in the same biopsy.

CBC AT DIAGNOSIS (April 2010):

Hb: 14.6 g/dl, Hct: 45.1%, White cells: 46900, Plt:142000

Neutrophils:47%

Bands :1%

Metamyelocytes:1%

Myelocytes:6%

Lymphocytes :13%

Monocytes :1%

Eosinophils:31% (absolute count 11450)

No immature cells.

CBC Feb 2013

Hb: 11.2 g/dl; Hct: 34.8%, White cells: 4960, Plt: 247000

Neutrophils:76%

Lymphocytes :20%

Monocytes :3%

Eosinophils:1%

Paracortical areas are positive for tdt/CD3/CD56 and T-cell markers and negative for CD34, CD15, CD33, CD117, CD68 (PGM1), MPO and CD30.

Areas of myeloid sarcoma are positive for CD117, CD56, CD15, CD33 and MPO. All the rest of the markers are negative in these areas.

Flow cytometry showed no blast increase in a diluted sample (data not shown).

Karyotype: 46,XX,t(1;8)(q23;p11.2)

BCR/ABL by PCR is negative

8p11 FISH (break apart probe) in BM smear is negative

This is a unique case of the called 8p11 syndrome because the presentation as myeloproliferative neoplasm in PB and BM and Myeloid sarcoma and T lymphoblastic lymphoma in the lymph node biopsy.

Cytogenetics shows 8p11 (FGFR1-Fibroblast growth factor receptor-1) traslocation with a new partner in chromosome 1. As described in literature these patients should be treated with chemotherapy until remission and go to allogenic transplant because the aggressive clinical behavior. Prognosis is much better with this approach. In fact, our patient is alive after 25 months.

Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1

Myeloid and lymphoid neoplasm with t(1;8)(q23;q11.2), presenting with T lymphoblastic lymphoma, myeloid sarcoma, and myeloproliferative neoplasm with eosinophilia (FGFR1 not rearranged by FISH)

Case 172