Introduction
Systemic mastocytosis (SM) results from a clonal proliferation of
abnormal mast cells (MCs) in extra-cutaneous organs. It could be divided
into indolent SM (ISM), smoldering SM (SSM), SM with an associated
hematologic (non-MC lineage) neoplasm (SM-AHNMD), aggressive SM (ASM),
and mast cell leukemia (MCL). [1-3]
Clinical features of SM could be related to histamine release or to
uncontrolled growth and infiltration of clonal MCs in different organs.
[2-5] The latter clinical features are divided into B findings
(>30% MC infiltration on BM biopsy and serum total
tryptase level >200 ng/mL, hepatomegaly with normal liver
function, palpable splenomegaly without hypersplenism, and/or
lymphadenopathy, signs of dysplasia or myeloproliferation in non-MC
lineage, but not diagnostic of an associated hematological neoplasm) or
C findings (organ dysfunction due to mast cell infiltration). [2-4]
Diagnosis of ISM is established with <2 B findings and no C
findings; when > 2 B findings but no C findings are
present, the diagnosis is SSM, and when one or more C findings are
detected ASM can be diagnosed. [2-4]
The treatment of adult SM should be highly individualized; while the
backbone of therapy in ISM and SSM is symptom management, for aggressive
and leukemic forms cytoreductive treatment is indicated. [3,4]
Historically, cytoreductive agents include interferon-α and cladribine.
[3,4,6,7] Allogeneic stem cell transplant could be considered in
SM-AHNMD when the associated hematologic neoplasm has an indication to
transplantation and in ASM patients with relapsed/refractory disease or
in those with acute MCL. [8]
With the advent of the tyrosine kinase inhibitors (TKIs) era, many
efforts have been made to find proper inhibitor of SM
c-KIT –driver mutation. Midostaurin has been shown to induce
major clinical responses with improvement or disappearance of one or
more C-findings, a decrease in the MC burden, organomegaly and
mediator-related symptoms. [9]
Hereby, we report an extended description of a real-life management of
an ASM patient conditioning bulky lymphadenopathy who has undergone to
multiple lines of treatment.
All procedures were in accordance with the ethical standards of the
responsible committee on human experimentation (institutional and
national) and with the Helsinki Declaration of 1975, as revised in 2013.