We are reporting a very rare case of primary bronchogenic squamous cell carcinoma (SCC) with bone metastasis in a 13-year-old boy. A brief review of the English literature on this rare neoplasm in childhood is presented.
Case presentationA 13-year-old boy presented with a two-month history of left shoulder pain. Radiographs followed by MRI demonstrated a destructive lesion of the metaphysis of the proximal third of the left humerus [Fig 1]. The metaphysis of the humerus was replaced by a 5-cm tumor. There was some erosion of the cortex with minimal soft tissue extension by the tumor. The initial impression of the lesion was an osteosarcoma, however, an open biopsy revealed metastatic squamous cell carcinoma. The tumor showed islands and nests of squamous cells with a basaloid appearance at the periphery with maturation and squamous pearl formation in the center [Fig 2]. The cells appeared anaplastic with prominent nucleoli, numerous mitoses and focal necrosis [Fig 3].Molecular cytogenetic studies on the tumor were positive for rearrangement of the NUT1 region in 54% of the interphase cells. Additional interphase FISH studies were negative for the NUT/BDR4 fusion. The patient underwent a PET-CT that showed multiple foci of increased uptake in the right upper lobe of the lung. Additional abnormal uptake was also noted at T1, T8, T10, and T11, left proximal humerus, right hilar nodes and right acetabulum. A subsequent chest CT confirmed. the malignant lung neoplasm [ Fig. 4] Since lung cancer is an extremely rare childhood neoplasm, radon tests are performed in the family home and the results were negative. Upon further questioning, a history of lung cancer in both grandmothers was uncovered. One grandfather also had a history of non-Hodgkin lymphoma and pancreatic cancer. The patient was treated with various chemotherapeutic agents. There was no significant clinical improvement and he died one year later.
DiscussionPrimary lung cancer is the most frequently diagnosed cancer in the USA and the most common cause of cancer mortality worldwide. It occurs most often between the ages of 40 and 70 years, with a peak incidence in the fifties and sixties. Only 2% of all cases appear before the age of 40. Primary lung cancer in childhood is a rare entity and primary bronchogenic squamous cell carcinoma is extremely rare. To our knowledge, only eight cases of primary bronchogenic squamous cell carcinoma in childhood have been reported in English literature.