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Chronic myelomonocytic leukaemia (CMML) presenting as a thyroid mass

An 87-year-old woman was referred to the endocrine surgical outpatient clinic with a 6-month history of an enlarging neck mass associated with dysphagia. She admitted to increasing fatigue, easy bruising and shortness of breath. Clinical examination revealed a large stony-hard diffuse goitre (top). Blood tests demonstrated normochromic anaemia, thrombocytopenia and a monocytosis. Open thyroid biopsy showed myelomonocytes actively destroying the thyroid follicles (bottom left, haematoxylin and eosin stain; bottom right, immunohistochemistry CD68) and leukaemic infiltration of the thyroid gland was therefore diagnosed. A bone marrow aspirate showed granulocytic and monocytic hyperplasia with dysplastic monocytoid cells. The patient was commenced on hydroxyurea. Over the following few weeks her condition deteriorated and she died 1 month after presentation from overwhelming sepsis. CMML is a clonal haemopoietic stem cell disorder characterized by ineffective and dysplastic haemopoieses and a propensity towards acute transformation. Excessive granulocytic and monocytic proliferation within the marrow results in peripheral blood monocytosis and, frequently, neutrophilia. Most patients are elderly and present with symptoms of bone marrow failure. Rare clinical manifestations include serous effusions, systemic vasculitis and immunological abnormalities. Infiltration of the thyroid gland has not previously been described.