Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation, is a rare developmental lung abnormality associated with rhabdomyosarcoma, pleuropulmonary blastoma, and mucinous adenocarcinoma of the lung. We report an unusual case of a 10-day-old male newborn with a left lower lobe pulmonary cyst who underwent lobectomy, which revealed type II C...

Pleuropulmonary blastoma (PPB) is the most frequent pediatric lung tumor and often the first indication of a pleiotropic cancer predisposition, DICER1 syndrome, comprising a range of other individually rare, benign and malignant tumors of childhood and early adulthood. The genetics of -associated DICER1 tumorigenesis are unusual in that tumors typically bear neomorphic missense mutations at one...

In this article, it is aimed to review the radiological signs of unusual primary malignant tumors of the thorax. Radiological studies of 11 patients with histologic diagnosis of thoracic sarcomas were interpreted retrospectively. Tumors originated from the chest wall (n=3), mediastinum (n=4), and pulmonary parenchyma (n=4). Histopathologic diagnoses were fibrosarcoma (n=1), alveolar rhabdomyosa...

In a typical morning in the Cancer Genetics Clinic at The Hospital for Sick Children in Toronto, the following array of patients and families might be seen: a family of three children, all harbouring a mutation of the succinyl dehydrogenase C gene inherited from their father who had had extensive surgery several years ago for a secreting paraganglioma; three families with Li-Fraumeni syndrome, ...

Pleuropulmonary blastoma (PPB) is the most frequent pediatric lung tumor and often the first indication of a pleiotropic cancer predisposition, DICER1 syndrome, comprising a range of other individually rare, benign and malignant tumors of childhood and early adulthood. The genetics of -associated DICER1 tumorigenesis are unusual in that tumors typically bear neomorphic missense mutations at on...

DICER1 is an RNase endonuclease important for production of microRNAs, which regulate multiple proteincoding genes involved in growth and development. It has been linked to several tumors including pleuropulmonary blastoma (PPB), cystic nephroma, ovarian Sertoli-Leydig cell tumors and thyroid neoplasia. Most of the manifestations of DICER1 mutations occur in young children, adolescents and youn...

Cystic fibrohistiocytic tumor of the lung is a rare neoplasm. In many cases it represents a metastasis from a benign or low-grade fibrohistiocytic tumor of the skin, but occasionally it may be primary. Radiologically it usually occurs as a cystic change of multiple pulmonary nodules, and pneumothorax is the most frequent presenting symptom. We present here a 16-year-old man with recurrent right...

BACKGROUND We aimed to review clinical characteristics, treatment results and outcome of pediatric patients with primary pleuropulmonary neoplasms. METHODS Medical records of 14 cases diagnosed between 1972-2009 were reviewed retrospectively. RESULTS The male/female ratio was 5/9 and the mean age at diagnosis was 9.1 years (2-16). All but one were symptomatic, presenting with fever, coughin...