RESUMO
The Mazabraud syndrome is a rare form of bone fibrous dysplasia associated with intramuscular myxomas. The McCune-Albright syndrome is characterized by the association of dysplasia fibrous bone to one or more extra-osseous manifestations, including café-au-lait skin spots and endocrine disturbances. Here, we report on a new case of a 52-year-old man with sacroiliac polyostotic bone fibrous dysplasia associated with intramuscular myxomas of the left buttock and thigh and a café-au-lait skin spot. Biopsy analysis of one muscular lesion on the left thigh analysis revealed a spindle cell tumor with myxoid stroma with GNAS gene mutation, confirming the diagnosis of intramuscular myxoma. Given the absence of radiological sign of malignancy at the bone level and a few pains relieved by simple analgesics, no specific treatment was applied. In March 2022, after 18 months of follow-up, the magnetic resonance imaging and the PET-CT scan showed a stable disease. To our knowledge, this case is the fourth one reporting association of Mazabraud syndrome and McCune-Albright syndrome in a man. The association of intramuscular tumors and bone tumors in the same anatomical region and without any continuity, especially in lower limbs, must evoke the diagnosis of Mazabraud syndrome.
RESUMO
INTRODUCTION: As metastatic pulmonary adenocarcinomas are routinely investigated for EGFR, KRAS, and ALK mutations/rearrangement, adequacy of CT-guided trans-thoracic needle biopsies (TTNB) needs to be evaluated in respect with the 2011 ATS/ERS/IASLC guidelines. METHODS: Two series of consecutive TTNB with 18-gauge needles performed before and after the publication of the ATS/ERS/IASLC guidelines, were retrospectively compared regarding their adequacy for histological sub-typing and EGFR/KRAS mutations and ALK rearrangement testing; the first series included 43 TTNB collected from January 2010 to February 2011, and the second one 48 TTNB collected from March 2011 to December 2012. RESULTS: 28 women and 63 men were included; the 2 groups were comparable in age, in mean size of lesions (32.5 mm), and distance of the lesion from the pleura. By comparing the first to the second series, the number of biopsies increased from 1.6 to 1.85, their mean length increased from 10.9 to 12.5mm, and the mean number of stainings (TTF1, P63, CK5-6, mucins) per biopsy decreased from 2.6 to 1. Mean tumor cell percentage was 42%, mean total DNA extracted increased from 2.7 to 3.8 µg. In the first series, 85% of TTNB allowed EGFR exons 19 and 21 and KRAS mutations pyrosequencing and 72% additional EGFR exons 18 and 20 mutation analyses, versus 98% and 92% in the second. CONCLUSIONS: With respect to ATS/ERS/IASLC guidelines, radiologists, biologists and pathologists have improved their practice; accordingly, CT-guided TTNB enable a precise histological sub-typing and provide sufficient DNA amount for genetic analyses.
