PMC4652426_01
a Histological and genetic characteristics of bone marrow infiltrating cells. Top left Infiltration of the bone marrow by medium to large atypical cells (x40), right top corner (x100); top right Gelelectrophoresis of PAX/FKHR RT-PCR including positive and negative controls for PAX7- und PAX3-FKHR fusions in two dilutions (neat and 1:50), below results of Sanger sequencing; bottom panel the atypical cells express desmin, CD56 and MyF4. b
Left panel Whole body positron emission tomography (PET-CT); top right panel PET-CT indicating one single increased uptake in the right thyroid gland revealing follicular neoplasia; bottom right panel haemangioma in the 9th thoracic vertebrae
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PMC4652426_01_13569_2015_39_Fig1_HTML.jpg
Fig1
Surprisingly, the immunohistological assessment revealed an infiltration (up to 35 %) of the bone marrow with ARMS (Fig. 1a top panel left) with strong positivity for desmin, CD56 and MyF4 (Fig. 1a bottom panel) and negativity in particular for NGFR, TLE1, Melan-A, MITF, HMB45, and S100 (data not shown). In addition, genetic analysis of the biopsy by reverse transcriptase-polymerase chain reaction (Fig. 1a top panel right) and Sanger sequencing (Fig. 1a top panel right) detected the PAX3-FKHR gene fusion. Staging and work up of the occult primary tumour via whole body FDG-PET (Fig. 1b panel left) showed a single site of increased uptake in the right thyroid gland with absence of a corresponding lesion in the integrated computerised tomography (Fig. 1b top panel right). Furthermore, adenoma of the right adrenal gland and haemangiomas in the 9th and 12th thoracic vertebrae (Fig. 1b bottom panel right) were diagnosed via FDG-PET/CT and were confirmed by magnetic resonance imaging (MRI).