Mast cell tumor biopsy: Difference between revisions
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The diagnosis of systemic mastocytosis is established by demonstrating mast cell infiltration in an involved tissue, particularly the bone marrow, using special staining techniques or flow cytometry.<ref name="KoenigMorel2008">{{cite journal|last1=Koenig|first1=Martial|last2=Morel|first2=Jérôme|last3=Reynaud|first3=Jacqueline|last4=Varvat|first4=Cécile|last5=Cathébras|first5=Pascal|title=An unusual cause of spontaneous bleeding in the intensive care unit – mastocytosis: a case report|journal=Cases Journal|volume=1|issue=1|year=2008|pages=100|issn=1757-1626|doi=10.1186/1757-1626-1-100}}</ref> | The diagnosis of systemic mastocytosis is established by demonstrating mast cell infiltration in an involved tissue, particularly the bone marrow, using special staining techniques or flow cytometry.<ref name="KoenigMorel2008">{{cite journal|last1=Koenig|first1=Martial|last2=Morel|first2=Jérôme|last3=Reynaud|first3=Jacqueline|last4=Varvat|first4=Cécile|last5=Cathébras|first5=Pascal|title=An unusual cause of spontaneous bleeding in the intensive care unit – mastocytosis: a case report|journal=Cases Journal|volume=1|issue=1|year=2008|pages=100|issn=1757-1626|doi=10.1186/1757-1626-1-100}}</ref> | ||
*Skin biopsy | *Skin biopsy | ||
*Bone marrow biopsy | *Bone marrow biopsy<ref name="MolderingsBrettner2011">{{cite journal|last1=Molderings|first1=Gerhard J|last2=Brettner|first2=Stefan|last3=Homann|first3=Jürgen|last4=Afrin|first4=Lawrence B|title=Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options|journal=Journal of Hematology & Oncology|volume=4|issue=1|year=2011|pages=10|issn=1756-8722|doi=10.1186/1756-8722-4-10}}</ref> | ||
:*After clinical diagnosis, a [[bone marrow]] biopsy is usually recommended because based on current information it cannot be predicted whether the genetic alterations inducing pathological mast cell activity in affected mast cells have not also induced disturbances in hematopoietic non-mast cell lineages. | :*After clinical diagnosis, a [[bone marrow]] biopsy is usually recommended because based on current information it cannot be predicted whether the genetic alterations inducing pathological mast cell activity in affected mast cells have not also induced disturbances in hematopoietic non-mast cell lineages. | ||
:*Systemic mastcytosis due to codon 816 mutations has been observed to be associated with myeloid neoplasms (and, less frequently, with B-cell neoplasms) frequently enough to warrant routine marrow biopsy when systemic mastocytosis is suspected (e.g., serum tryptase elevation per the WHO criteria, frequent unprovoked anaphylactoid events). | :*Systemic mastcytosis due to codon 816 mutations has been observed to be associated with myeloid neoplasms (and, less frequently, with B-cell neoplasms) frequently enough to warrant routine marrow biopsy when systemic mastocytosis is suspected (e.g., serum tryptase elevation per the WHO criteria, frequent unprovoked anaphylactoid events). |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Biopsy
The diagnosis of systemic mastocytosis is established by demonstrating mast cell infiltration in an involved tissue, particularly the bone marrow, using special staining techniques or flow cytometry.[1]
- Skin biopsy
- Bone marrow biopsy[2]
- After clinical diagnosis, a bone marrow biopsy is usually recommended because based on current information it cannot be predicted whether the genetic alterations inducing pathological mast cell activity in affected mast cells have not also induced disturbances in hematopoietic non-mast cell lineages.
- Systemic mastcytosis due to codon 816 mutations has been observed to be associated with myeloid neoplasms (and, less frequently, with B-cell neoplasms) frequently enough to warrant routine marrow biopsy when systemic mastocytosis is suspected (e.g., serum tryptase elevation per the WHO criteria, frequent unprovoked anaphylactoid events).
- The frequency of discovery of associated hematologic neoplasms on marrow biopsy at the time of diagnosis of MCAS remains unclear but in our experience appears very low.
- However, a byproduct of marrow biopsy is that immunohistochemical analysis of the specimen may permit the classification of the mast cell activation disease as SM defined by the WHO criteria.
- In this context, it has to be considered that due to the typically patchy distribution of mast cell infiltration in the bones a single marrow biopsy fails to find systemic mastocytosis in the marrow approximately one-sixth of the time.
References
- ↑ Koenig, Martial; Morel, Jérôme; Reynaud, Jacqueline; Varvat, Cécile; Cathébras, Pascal (2008). "An unusual cause of spontaneous bleeding in the intensive care unit – mastocytosis: a case report". Cases Journal. 1 (1): 100. doi:10.1186/1757-1626-1-100. ISSN 1757-1626.
- ↑ Molderings, Gerhard J; Brettner, Stefan; Homann, Jürgen; Afrin, Lawrence B (2011). "Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options". Journal of Hematology & Oncology. 4 (1): 10. doi:10.1186/1756-8722-4-10. ISSN 1756-8722.