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Case 10 - Discussion

Hematopathology Case

 

MICROSCOPIC EXAM:
 

PERIPHERAL BLOOD        

Severe anemia with severe anisopoikilocytosis and polychromasia is noted. Numerous nRBCs are seen, and they show marked dyserythropoiesis, including megaloblastoid changes, irregular nuclear contours, binucleation, and nuclear budding. Occasional Howel-Jolly body and basophilic stippling are present. Moderate leukocytosis is present with 7% circulating blasts. The blasts are medium in size with high N/C ratio, fine nuclear chromatin and prominent nucleoli, and scant basophilic cytoplasm. The platelets are adequate in number, with marked anisocytosis of platelets, ranging from small to giant with bizarre forms. Occasional circulating megakaryocytes are noted. 

 

BONE MARROW ASPIRATE SMEAR AND TOUCH IMPRINTS:

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. Megakaryocytes are increased with atypical forms and scattered naked nuclei. Iron stains show increased iron stores and numerous ringed sideroblasts. 

 

BONE MARROW CORE BIOPSY AND CLOT SECTION:

The overall cellularity is 80%. The myeloid series in increased in number with scattered CD34+ blasts (<5%). 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 marrow spaces are markedly distorted by a marked reticular fibrosis and focal collagenous fibrosis. Markedly distended sinusoids are seen with exttramedullary hematopoiesis in their lumens. The bony trabeculae are irregularly thickened.

     

DIFFERENTIAL:

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

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

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

       Monocytes: 2%. 

     

CYTOGENETIC AND FISH STUDIES (UNMC, Cytogenetics)

 

Cytogenetic results: 46,XY,t(3;9)(q22;p24)

     

FISH results: positive for variant JAK2 (9p24) rearrangement. MDS panel showed two copies of chromosomes 7 and 8 and two copies of chromosomal 5q31, 7q31 and 20q12 in the interphase cells.  Specifically, there was no evidence of an abnormal clone in this specimen associated with the probes used in this MDS interphase FISH panel. 

SPECIAL STAINS

 
 
PAS  
RETICULUM RETICULUM
   
   

DIAGNOSIS

 

- Myelodysplastic syndrome with t(3;9)(q22;p24)

- Increased blasts (12%) with marked dyserythropoiesis, dysmegakaryopoiesis and increase in ring sideroblasts