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Year : 2011  |  Volume : 54  |  Issue : 4  |  Page : 854-856
Systemic mastocytosis with an associated non mast cell lineage clonal hematological disease in a child


1 Department of Pathology, Lady Hardinge Medical College and Associated Hospitals, New Delhi, India
2 Department of Pediatrics, Lady Hardinge Medical College and Associated Hospitals, New Delhi, India

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Date of Web Publication6-Jan-2012
 

How to cite this article:
Sharma S, Harbhajanka A, Jain A, Seth A. Systemic mastocytosis with an associated non mast cell lineage clonal hematological disease in a child. Indian J Pathol Microbiol 2011;54:854-6

How to cite this URL:
Sharma S, Harbhajanka A, Jain A, Seth A. Systemic mastocytosis with an associated non mast cell lineage clonal hematological disease in a child. Indian J Pathol Microbiol [serial online] 2011 [cited 2019 Jun 19];54:854-6. Available from: http://www.ijpmonline.org/text.asp?2011/54/4/854/91531


Sir,

Systemic mastocytosis (SM) with an associated non mast cell lineage clonal hematological disease (AHMD), a new entity added in myeloproliferative neoplasm in 2008 WHO classification. It comprises of all cases of SM with an associated non mast cell lineage clonal hematological diseases, such as, myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN), acute myeloid leukemia (AML), and chronic myelomonocytic leukemia (CMML). [1] SM is generally diagnosed after 20 years of age and always involves bone marrow (BM) with other organs including skin, liver, lymph node, and gastrointestinal tract. [2] SM-AHMD is a very rare disorder; therefore, very little is known about its frequency and distribution. [3] The frequency of mastocytosis is only 0.3% on bone marrow biopsies. Among the myelogenous tumors, mastocytosis is rare neoplasm comprising 1.5% of all cases. [3] Moreover, MDS in a child is rare that is 1.8/million children aged 0-14 years and its association with systemic mastocytosis makes it a very rare entity in this age group. [4]

A 2.5-year-old female presented with generalized edema, epistaxis, and blood in stools for three to four months. Physical examination revealed pallor, petechiae, anasarca, and moderate hepatosplenomegaly. Hematology work-up showed macrocytic anemia (hemoglobin-3.5 gm/dl, RBC count-3.3 × 10 6 /μl, MCV-102.9fl, MCH-30.9 pg, and MCHC-30 gm/dl) with leukocytosis (TLC-92 × 10 3 /μl), and thrombocytopenia (platelet count-9 × 10 3 /μl). Peripheral blood smear showed leucoerythroblastic blood picture with 4% blasts and occasional mast cells with atypical morphology [Figure 1]. Bone marrow aspiration (BMA) revealed cellular marrow with 11% blasts and features of dysmyelopoiesis and dyserythropoiesis. There were numerous mast cells lying singly and in variably sized clusters of >15 cells. Few of these mast cells showed atypical morphological features in the form of fusiform shape, hypogranularity, eccentricaly placed nuclei, and uneven distribution of granules [Figure 2]. There was suppression of megakaryocytic series with presence of occasional micromegakaryocytes. On toluidine blue staining, this mast cell stained positive for metachromatic granules. Bone marrow biopsy showed clusters of similar mast cells, positive for CD117 [Figure 3]. Few cells were positive for CD34. Thus, based on above morphological and immunological features a final diagnosis of systemic mastocytosis with myelodysplastic syndrome-refractory anemia with excess blast-II (MDS RAEB-II) as an associated clonal hematological non mast cell disease was given. Patient stayed in the hospital for two months and treated symptomatically. However, spleen and liver increased in size and peripheral smear blast count became 10%. She was referred to higher centre for therapy, but succumbed to her illness.
Figure 1: Peripheral smear shows leukoerythroblastic blood picture with few blasts and atypical mast cell (Inset) (right geimsa, ×1000)

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Figure 2: Bone marrow aspirate smear show cluster of >15 mast cells, (right geimsa, ×1000)

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Figure 3: Bone marrow biopsy show cluster of >15 mast cells with toludine blue and CD117 (Inset) H and E, ×1000

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In patients with SM-AHNMD, CMML is the most common associated myeloid neoplasm followed by AML. [1] However in this case, in view of <20% blast in bone marrow with dysplasia in all three lineages, MDS-RAEB II as an associated clonal hematological non mast cell disease was considered. In contrast to indolent SM, SM-AHNMD is often associated with a poor prognosis, primarily due to the unfavorable clinical course of the AHNMD. [1] The present case also had poor prognosis as she succumbed to her illness within two months of diagnosis. No general guidelines for the treatment of patients with SM-AHNMD have been established so far. A reasonable straightforward approach may be to treat the AHNMD in these patients in the same way as if no coexisting SM exists or treat SM in a way as if no AHNMD exists. [5]

To summarize, SM-AHNMD is primarily a morphological diagnosis based on thorough examination of BMA and trephine biopsy specimens.


   Acknowledgment Top


We thank Dr. Richa Chauhan for helping in drafting the manuscript and photograph.

 
   References Top

1.Horny HP, Parwaresch MR, Lennert K. Bone marrow findings in systemic mastocytosis. Hum Pathol 1985;16:808-14.  Back to cited text no. 1
[PUBMED]    
2.Horny HP, Kaiserling E, Campbell M, Parwaresch MR, Lennert K. Liver findings in generalised mastocytosis. A clinicopathologic study. Cancer 1989;63:532-8.  Back to cited text no. 2
[PUBMED]    
3.Valent P, Horny HP, Li CY, Jaffe ES, Harris NL, Stein H, et al. Mastocytosis. In,Tumours of haematopoieticand lymphoid tissues (WHO). Lyon, France: IARC Press; 2001. p. 291-302.  Back to cited text no. 3
    
4.Hasle H. Myelodysplastic syndrome. In: Pui CH, editor. Chilhood leukemia. 2 nd ed. New York: Cambridge University Press; 2006. p. 551.  Back to cited text no. 4
    
5.Valent P, Akin C, Sperr WR, Horny HP, Arock M, Lechner K, et al. Diagnosis and treatment of systemic mastocytosis: State of the art. Br J Haematol 2003;122:695-717.  Back to cited text no. 5
[PUBMED]    

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Correspondence Address:
Sunita Sharma
Department of Pathology, Lady Hardinge Medical College and Associated Hospitals, New Delhi - 110 001
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.91531

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