CHEST Guidelines-A-40-Year-Old-Woman-With-Back-Pain

A-40-Year-Old-Woman-With-Back-Pain_chest

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A 40-year-old woman, experiencing 7 months of left dorsal back pain and recent dyspnea, consulted the emergency department after her symptoms intensified. The pain was initially dull, and treatment with NSAIDs and physiotherapy gave partial relief. She also experienced a weight loss of 5 kg in the last month. Her medical history showed no use of tobacco or drugs, and she worked as a butcher. Physical examination revealed hypophonesis of the left hemithorax and no palpable lymph nodes. Significant findings included uncountable freckles and large brown papules on her trunk and limbs.<br /><br />A chest X-ray showed a large mass occupying the left hemithorax. Further imaging with contrast-enhanced CT and PET/CT revealed a heterogeneous mass causing a mediastinal shift, lung atelectasis, and pleural effusion, along with nodules in the intercostal spaces and left thigh. Blood tests indicated microcytic anemia and elevated C-reactive protein, with prolonged prothrombin time and minor coagulation factor VII reduction, though liver, renal, and thyroid functions were normal.<br /><br />A CT-guided biopsy initially showed normal pleural tissue, necessitating a surgical approach for mass removal. The tumor, measuring 20 x 17 x 12 cm and weighing 2 kg, displayed varying histological features. Initial areas showed low-grade spindle cell proliferation with S100 positivity, whereas higher-grade regions exhibited necrosis and pleomorphism with S100 negativity. This indicated a malignant peripheral nerve sheath tumor (MPNST) within a plexiform neurofibroma in a patient with neurofibromatosis type 1 (NF1).<br /><br />The case highlights the necessity of considering MPNST in NF1 patients. Post-surgery, the patient received radiotherapy and chemotherapy, with significant clinical improvement noted one month later. Genetic sequencing confirmed a mutation in the NF1 gene. The case underscores the importance of awareness of NF1 manifestations and the challenges in diagnosing and treating intrathoracic MPNSTs.

Keywords

malignant peripheral nerve sheath tumor

neurofibromatosis type 1

intrathoracic MPNST

plexiform neurofibroma

NF1 mutation

spindle cell proliferation

mediastinal shift

microcytic anemia

radiotherapy

chemotherapy