Case 10- Discussion

Uploaded: 2007-06-10, Updated: 2007-06-10

PERIPHERAL BLOOD        

Moderate leukocytosis is present. Circulating blasts at 7% are seen. The blasts are medium in size with fine chromatin and prominent nucleoli, and they have high N/C ratio and mild amount of basophilic cytoplasm. Severe anemia with severe anisopoikilocytosis and polychromasia is noted. Numerous nucleated RBCs are seen., and the nRCBs show marked dyerythropoiesis including megaloblastoid changes, irregular nuclear contourns, binucleation and nuclear budding. Occasional Howel-Jolly body and basophilic stippling are present. The platelets are adequate in number, although there is marked anysocytosis of platelets ranging from small to giant with bizarre forms. Occasional circulating megakaryocytes are noted. 

BONE MARROW CORE BIOPSY AND CLOT SECTION:

The overall cellularity is 80%  and trilineage hematopoiesis is present. The erythroid series is increased in number with patchy distribution. The megakaryocytes are atypical and markedly increased in number and form several clusters around the distended sinusoids and in paratrabecular localization. Many hyperlobated megakaryocytes with naked nuclei  are seen. The myeloid series in increased in number and shows unremarkable maturation. Mild increase in eosinophils is noted. Scattered CD34+ blasts (<5%) are noted. MPO, CD15 and CD117 highlights the myeloid cells with a predominance of mature CD15+ cells and less amount of immature CD117+ cells. 

The marrow spaces are markedly distorted by a marked reticular fibrosis (reticulin stain) and focal collagenous fibrosis (thrichromic stain). Markedly distended sinusoids are seen with exttramedullary hematopoiesis in their lumens. The bony trabeculae are irregularly thickened. No lymphoid aggregates, sheets of blasts or granulomas are seen

BONE MARROW ASPIRATE SMEAR AND TOUCH IMPRINTS:

Trilineage hematopoiesis is present. The erythroid series is increased in number and shows prominent dysplastic changes including megaloblastoid changes, irregular nuclear contourns, nuclear buddings, binucleation, and basophilic stippling. The myeloid series is increased in number with progressive maturation. About 12% of blasts are identified, with similar features to that described in the blood smear. Few scattered small lymphocytes and occasional plasma cells are noted. Megakaryocytes are increased with atypical forms and scattered naked nuclei. Iron stains show increased iron stores and numerous ringed sideroblasts. 

DIFFERENTIAL:

       Blasts: 12%, Promyelocytes: 7%, Myelocytes: 10%, 

       Metamyelocytes: 15%, Bands: 22%, Neutrophils: 27%, 

       Eosinophils: 2%, Lymphocytes: 2%, Plasma cells: 1%,

       Monocytes: 2%. 

Bone marrow:

CYTOGENETICS (UNMC, Cytogenetics)

NOMENCLATURE:

     46,XY,t(3;9)(q22;p24)

    Cytogenetic analysis revealed the persistence of an abnormal clone characterized by a reciprocal translocation involving 3q and 9p.      

FISH CYTOGENETICS REPORT

SPECIMEN: Peripheral blood

RESULTS: Positive for variant JAK2 (9p24) rearrangement. 

INTERPRETATION: ABNORMAL. Molecular cytogenetic studies were positive for a rearrangement of the JAK2 region at 9p24.1 in 72% of the interphase cells from this specimen. Specifically, these results are positive for the t(3;9)(q22;p24) seen in this patient's karyotype.

SUPPLEMENTARY REPORT:

RESULTS: Negative for all probes in MDS panel. 

INTERPRETATION: Molecular cytogenetic studies revealed the presence of two copies of chromosomes 7 and 8 and two copies of chromosomal 5q31, 7q31 and 20q12 in the interphase cells from this bone marrow.  Specifically, there was no evidence of an abnormal clone in this specimen associated with the probes used in this MDS interphase FISH panel. 

IMMUNOHISTOCHEMISTRY OR SPECIAL STAINS

DIAGNOSIS

CHRONIC IDIOPATHIC MYELOFIBROSIS WITH PROMINENT DYSERYTHROPOIESIS WITH RINGED SIDEROBLASTS AND INCREASED BLASTS (12%).

Myelodysplastic Syndrome