Mastocytosis Flashcards
What are the differenti categories of
Mastocytosis ?
- Cutaneous mastocytosis
- Systemic mastocytosis
- Mast cell sarcoma
What subcategories are listed
under cutaneous mastocytosis ?
- urticaria pigmentosa/maculopapular cutaneous mastocytosis
- diffuse cutaneous mastocytosis
- mastocytoma of the skin
What are the different subcategories of
systemic mastocytosis ?
- indolent systemic mastocytosis (including the bone marrow)
- smouldering systemic mastocytosis
- systemic mastocytosis with an associated hematological neoplasm
- aggressive systemic mastocytosis
- mast cell leukemia
When can the diagnosis of
systemic mastocytosis be rendered ?
- when the major criterion and at least 1 minor criterion are present
- OR
- when >3 minor criteria are seen
What is the basic definition of
Mastocytosis?
- clonal neoplastic proliferation of mast cells that accumulate in one or more organ systems
- disorder can be heterogeneous
- can have skin lesions that spontaneously regress to overtly aggressive systemic disease with poor survival
- Cutaneous mastocytosis
- cellular infiltrate remains localized to the skin
- Systemic mastocytosis
- involement of at least one extracutaneous organ with or witout evidence of skin lesions
What must be distinguished in mast cell disease?
- neoplastic vs. mast cell hyperplasia and mast cell activation states
- the reactive mast cells do not have the IHC and molecular abnormalities that the neoplastic ones do
What is the epidemiology of mast cell disease ?
- mastocytosis can occur at any age but certain types occur at different time periods
- cutaneous mastocytosis
- more comon in children and can present at birth
- much less common than adults with slight male predominance
- systemic mastocytosis
- diagnosed after the second decade
- equal M:F
Review localization
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- >80% with mastocytosis have skin involvement
- systemic mastocytosis
- BM is always involved
- rarely have circulating mast cells
- any tissue can be affected in systenic disease
- note: aggressive variants usually do not have skin lesions
What are key clinical features of
cutaneous mastocytosis ?
- the three types all can urticate when stroked (Darier’s sign)
- intraepidermal accumulation of melanin pigment also occurs
- Urticaria Pigmentosa
- blistering usually in patients < 3 years old
- but blistering is non-specific
What are the 4 clinical groups of
presenting symptoms of
systemic mastocytosis ?
- Constitutional symptoms
- fatigue, weight loss, fever, diaphoresis
- Skin manifestations
- pruritus, urticaria, dermatographism, flushing
- Mediator-related systemic events
- abdmonal pain, GI distres, syncope, headache, hypotension, tachicardia, respiratory symptoms
- Muskuloskeletal symptoms
- bone pain, osteopenia/osteoporosis, fractures, arthralgias, and myalgias
What physical findings can be seen
at diagnosis in mastocytosis ?
- splenomegaly (often minmal)
- lymphoadenopathy
- hepatomegaly
- Organomegaly is often absent in indolent systemic mastocytosis
- impaired organ function is seen in aggressive systemic mastocytosis
What is Mast Cell Activation Syndrome ?
- severe mediator related symptoms occurring in temporal association with increased serum tryptase levels
- this is NOT a subset of systemic mastocytosis
- but it can occur in that setting as well as in other disorders
- including IgE dependent allergic reactions
- but it can occur in that setting as well as in other disorders
- diagnosis in some patients does not fulfill criteria for systemic mastocytosis
- but can have clonal mast cells with aberrant CD25 and KIT D816V mutations
- these are called monoclonal MCAS
IMP: if there is diagnosed systemic mastocytosis it is key to mention MCAS because the symptoms are critical
What are the hematological manifestations
of systemic mastocytosis ?
- anemia, leukocytosis, eosinophilia (common), neutropenia and thrombocytopenia
- bone marrow failure can occur in patients with systemic disease
- circulating mast cells are rare and should raise the possibility of mast cell leukemia
Note: in 30% of cases of there is an associated hematological neoplasm
- myeloid neoplasms are more common
- prognosis depends on the hematological disorder and the mastocytosis but outcome usually determined by myeloid neoplasm
What is the significance of elevated
serum tryptase levels ?
- elevated serum tryptase levels >20 ng/mL suggests systemic mastocytosis and is one of the minor criterion
- IMP: if there is an associated myeloid neoplasm paramter is not valid
- in cutaneous mastocytosis
- serum tryptase levels are not that elevated
Review microscopic findings
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