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Review
. 2013;131(3):198-204.
doi: 10.1590/1516-3180.2013.1313460.

Indolent systemic mastocytosis limited to the bone: a case report and review of the literature

Pedro Pinto-Lopes  1 , Francisco Adao Fonseca, Roberto Silva, Pedro von Hafe, Elsa Fonseca
Affiliations
Review

Indolent systemic mastocytosis limited to the bone: a case report and review of the literature

Pedro Pinto-Lopes et al. Sao Paulo Med J. 2013.

Abstract
in English, Portuguese

CONTEXT Systemic mastocytosis is defined as a clonal disorder of mast cells and their precursor cells and is currently classified as a myeloproliferative neoplasm. Its clinical course has a wide spectrum, ranging from indolent disease, with normal life expectancy, to highly aggressive disease, associated with multisystemic involvement and poor overall survival. The aim of this study was to report a case of indolent systemic mastocytosis, focusing on the diagnostic challenges, with a review of the literature. CASE REPORT A 79-year-old Caucasian woman with osteoporosis was evaluated at the Emergency Department because of complaints of low back pain. Before this, she had consulted an orthopedist and had undergone some imaging examinations, namely a bone scan that revealed a "superscan" pattern. Due to her pain complaints and these test results, the patient was admitted to the Department of Internal Medicine. After undergoing several analytical tests and some additional imaging examinations to rule out some important differential diagnoses, she then underwent bone marrow biopsy, which made it possible to identify indolent systemic mastocytosis. CONCLUSION Systemic mastocytosis is a rare entity that is difficult to diagnose. Its symptoms are often unspecific and frequently ignored. Skeletal changes may be the first and only manifestation of the disease and in some cases, like this one, the diagnosis is made only after histological examination. The key point for the diagnosis is to contemplate the possibility of systemic mastocytosis.

CONTEXTO:: A mastocitose sistêmica é definida como um distúrbio clonal do mastócito e suas células precursoras, sendo atualmente classificada como uma neoplasia mieloproliferativa. Seu curso clínico tem um espectro alargado, variando desde a doença indolente caraterizada por uma sobrevida normal, até a doença altamente agressiva associada a um envolvimento multissistêmico e a uma sobrevida reduzida. Este artigo reporta um caso de mastocitose sistêmica indolente, focando as principais dificuldades diagnósticas e fazendo uma revisão sistematizada da literatura.

RELATO DO CASO:: Mulher de 79 anos, caucasiana, com antecedentes de osteoporose, foi avaliada no Serviço de Urgência por queixas de dor lombar. Antes disso, a doente havia consultado um ortopedista e realizado alguns exames de imagem, nomeadamente uma cintilografia óssea, que revelou um padrão em “superscan”. Em virtude de suas queixas álgicas e dos resultados dos estudos efetuados, foi internada no Departamento de Medicina Interna. Depois de realizados vários estudos analíticos e exames de imagem suplementares para excluir algumas importantes hipóteses de diagnóstico, a doente fez uma biópsia de medula óssea que permitiu identificar uma mastocitose sistêmica indolente.

CONCLUSÃO:: A mastocitose sistêmica é uma entidade rara e difícil de diagnosticar. Os seus sintomas são muitas vezes inespecíficos e frequentemente ignorados. As alterações esqueléticas podem ser as primeiras e as únicas manifestações e, em certos casos, como este, o diagnóstico só pode ser feito após exame histológico. O mais importante para o diagnóstico é contemplar a hipótese de estarmos perante uma mastocitose sistêmica.

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Conflict of interest statement

Conflict of interest: None

Figures

Figure 1.
Figure 1.. A) 99mTc bone scintigraphy, showing diffusely increased skeletal uptake of the radiotracer, with minimal activity in the soft tissues and kidneys (“superscan” pattern); B) and C) Computed tomography scan at the lumbosacral level, revealing multiple discrete osteolytic and osteoblastic lesions and diffuse osteopenia, relating to the vertebrae, sacrum and iliac bone.
Figure 2.
Figure 2.. Bone marrow biopsy. A) Hypercellular marrow, with elongated mast cells, fibrosis and many eosinophils (hematoxylin and eosin staining, H&E, original magnification x 200). B) Mast cell granules are easily revealed by means of Giemsa staining (original magnification x 400). Positive c-kit C) and tryptase D) immunostaining, which confirms the mast cell nature of cells infiltrating the marrow (original magnification x 400).
Chart 1.
Chart 1.. World Health Organization diagnostic criteria for systemic mastocytosis*
Chart 2.
Chart 2.. B and C findings in systemic mastocytosis, used to assess disease burden and disease aggressiveness
See this image and copyright information in PMC

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