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DD: RARS-T, 5q- or reactive, further studies need (8561)
DD: RARS-T, 5q- or reactive, further studies needclosed
Subtitle: B09-25752
Type:
bone marrow biopsy
Sender:
ugnius
2009-09-16 11:30
INCTR - EBMWG Hematopathology Online
69 yrs female from 2009 Feb is under treatment by transfussions and steroids. Resistant anaemia and thrombocytosis are present (RBC 2.47 10x12; PLT 461 10x9). Add diseases: gout, chronic renal insuficiency.  
HISTO: 1) Hyperplastic bone marrow with thrombocytosis up to 35/10 DPRL, mega-dysplasia, megaloblastic erythropoiesis, prominent deposition of iron, focal I reticulin fibrosis; 2) cementification lines of bone trabeculae.  
CD34+ blast 3%; CD117+ precursors 7% (with erythro).  
VIRTUAL SLIDES: Apperio (40x). JPGs taken from virtual slides.  
 
PROPOSAL: MDS/MPN NOS: RARS-T; Suspition of bone remodeling due to chronic renal insuficiency; prominent deposition of iron, focal I reticulin fibrosis.  
 
Thank you for beeing together.
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tzankov
2009-09-16 14:28
The findings are consistent and highly suspiciuos, respectively, of RARS-T, but you need the ring sideroblast on the aspirate to confirm the diagnosis. Since about 50% of cases have JAK2 mutations, the demonstration of such would also support your diagnosis. CD117 probably stains some erythroid precursors, the blast equivalents are about 3%, this RAEB1 criteria are (still) not fulfilled.
hurwitz
2009-09-17 16:19
I agree with you and Alex, the findings are highly suggestive of RARS-T. But we cannot make the diagnosis without any information about the amount of ring sideroblsts on the aspirate. Could you try to provide this information ? Of course it would be wonderful to see some images of ring sideroblasts on the aspirate !
anpo
2009-09-17 21:30
Was cytogenetic analysis performed? If there are no ring-sideroblasts the 5q- MDS could be considered as differential diagnosis. Most megakaryocytes are hypo-monolobated. If there are ringed sideroblasts the 5q- is unlikely.
ugnius
2009-09-18 08:01
Thanx. I hope JAK2 will be performed in clin lab. I wil mention in report recomendation about cytogenetics 5q-. I have NO RINGED SIDEROBLASTS in my (additional to histo slides) BM smears, but I'm in doubet about quality, because in particles and BM we have a lot of iron.
diane.c.farhi
2009-09-18 18:24
I see the erythroid and megakaryocytic hyperplasia and the abnormal bony remodeling, but I don't see evidence of fibrosis on these H&Es and I am not sure that there is dysmegakaryopoiesis. I agree that iron stores are elevated. If she has significant chronic renal failure (CRF)(is the creatinine level 2 or more? serum EPO increased?), then she could be expected to have a baseline hematocrit of about 20. RBC indices in CRF are usually normal, but can be microcytic or macrocytic, and the RDW is usually close to normal. We don't have that additional data in this case, but the RBC count given is compatible with CRF, as are the bony changes, and I am not surprised that she is transfusion-dependent. The platelet count is not significantly increased above normal (upper range of normal is usually 450). I don't know why she has megakaryocytic hyperplasia or increased iron, but without better evidence of dysplasia I wouldn't label this case as myelodysplastic syndrome.
hurwitz
2009-09-21 16:30
I agree with Ania, most megas are hypolobated and erythropoiesis is increased, appears megaloblastic on the sections, in addition, erythroid nest are seen in atypical paratrabecular localisation. All changes suggestive of MDS. The central question at this stage is about the presence of ring sideroblasts? Ugnius, you could not see any on the smears you received. I still would advice you to check with the hematologists, since they may be difficult to detect.
erber
2009-09-28 09:46
The marrow is mildly hypercellular with erythroid hyperplasia and some hypolobated megakaryocytes. This is not diagnostic  
The following additional information is required to make a diagnosis:  
1) biochemical measurement of iron status (ferritin, transferrin, saturation) to determine whether this is merely anaemia of chronic disease or iron deficiency; these must be excluded in this case.  
2) The bone marrow aspirate cytology is required to assess the cytological detail (presence or absence of dyserythropoiesis) and the iron stain to assess the presence or absence of ring sideroblasts.  
3) Cytogenetics is also required, specifically to determine whether chromosome 5 is normal or whether there is a deletion of the long arm.  
4) Molecular genetics is required to assess mutation status of JAK2.  
To make a diagosis without some of this additional clinico-pathological information is dangerous.
tzankov
2009-10-13 12:37
Since no further information will be added here, we can close the case now.  
 
No consensus can be met among the experts, the differential diagnoses reaching from consistent with clonal hematopoietic stem cell disorder (RARS-T, 5q-) to reactive changes. For diagnosis establishment, further details are needed, which can unfortunately not be provided.  
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Last modified: 2009-09-16 11:49:49