A RARE CASE OF ASYMPTOMATIC SYSTEMIC MASTOCYTOSIS WITH
ASSOCIATED HAEMATOLOGICAL NEOPLASM LEADING TO BUDD CHIARI
POSTER 20
SYNDROME
I
man Qureshi and Hayder Hussein
University Hospital Birmingham, Birmingham, United Kingdom
Here, we report the association of Systemic Mastocytosis with Associated Haematological
Neoplasm (SM-AHN) due to myeloproliferative neoplasm (MPN) resulting in Budd Chiari
Syndrome (BCS) with the retrospective diagnosis of Systemic Mastocytosis (SM) made on
review of bone marrow and liver histology. A previously fit and well 52-year-old woman
presented with abdominal pain and ascites. She was diagnosed with BCS and required a trans
jugular intrahepatic portosystemic shunt. Liver biopsy at the time of diagnosis was consistent
with centrilobular congestive changes in keeping with venous outflow obstruction and she
was commenced on anti-coagulation with warfarin. Despite normal peripheral blood counts
she had a JAK2V617F allele burden 12% and bone marrow examination showed evidence of
isolated megakaryocytic hyperplasia and unexpectedly mast cell proliferation. The patient had
no clinical features associated with mastocytosis, however further investigation showed an
elevated mast cell tryptase level and positivity for KIT D816V (0.6%). Retrospective analysis of
liver biopsy histology with immunostaining for mast cell markers showed evidence of a mast-cell
infiltration, consistent with hepatic involvement by SM however gastro-intestinal tract
(GIT) biopsies did not show evidence of mastocytosis. The patient remains on anti-coagulation
and at present has not required cyto-reductive treatment. Whilst myeloproliferative
neoplasms (MPN) are commonly associated with BCS, it is rare to find features of SM with
hepatic and bone marrow involvement in an asymptomatic individual. Visceral involvement is
crucial to identify the subcategories of mastocytosis 1,2 and immunostaining for mast cells
is not routinely performed on liver biopsies in the context of BCS.
BCS is defined as an obstruction of hepatic venous outflow 3 and a recent meta-analysis
showed that MPN are found in up to 40% of patients with BCS 3,4,5. Patients with BCS with
underlying MPN are typically younger females and due to portal hypertension and associated
hypersplenism, peripheral blood counts can be normal despite the presence of an underlying
somatic mutation such as JAK2V617F 3. SM is characterised by a neoplastic proliferation of
mast cells resulting in the infiltration of the bone marrow and various organs 1. Neoplastic
mast cells can result in focal or diffuse infiltration of a variety organs including the GIT and
liver 1 with hepatic manifestations including BCS 6. The World Health Organization (WHO)
classification identifies a distinct subgroup of SM-AHN 1,2 which can be diagnosed prior to
or after the diagnosis of SM. The frequency of associated haematological neoplasms with SM
can be up to 40% of all cases 7,8,9 and there is a propensity for myeloid disorders such as
MPN and myelodysplastic syndrome 7.