Nasal chondromesenchymal hamartoma in children with pleuropulmonary blastoma-A report from the International Pleuropulmonary Blastoma Registry registry

作者：Priest John R^*; Williams Gretchen M; Mize William A; Dehner Louis P; McDermott Michael B

来源：International Journal of Pediatric Otorhinolaryngology, 2010, 74(11): 1240-1244.

DOI：10.1016/j.ijporl.2010.07.022

• Nasal chondromesenchymal hamartoma
• Pleuropulmonary blastoma
• Cancer predisposition
• PPB
• NCMH
• DICER1

Objectives: Nasal chondromesenchymal hamartoma (NCMH) is an uncommon chondro-stromal tumor of the nasal cavity and paranasal sinuses in infancy and childhood. Pleuropulmonary blastoma (PPB) is also a rare malignancy of lung and pleura in childhood and is the sentinel disease of an important familial tumor and dysplasia syndrome. This study identified NCMH in PPB patients.
Methods: The International PPB Registry collects cases of PPB using central pathology review and evaluation of clinical records. The Registry also evaluates PPB literature. Examples of NCMH occurring with PPB were identified. Clinical records, digital radiography and pathologic specimens of PPB-associated NCMH cases were analyzed.
Results: Among approximately 625 cases of PPB, four children developed NCMH. These cases are among 28 total reported NCMH cases. NCMH presented with sinonasal congestion and visible polypoid nasal masses and were diagnosed from ages 7 to 15 years, similar to older reported NCMH cases. NCMH involved the nasal cavity, paranasal sinuses and upper nasopharynx, was bilateral in three children and locally recurrent in one. In two children, NCMH had the characteristic pathologic spectrum of immature nodules of cartilage surrounded by spindle cell stroma, whereas the other two NCMH displayed mature chondroid nodules and a less varied fibrous stroma. NCMH was not identified in family members with PPB.
Conclusions: NCMH developing in four children with PPB indicates that NCMH is part of the heredofamilial disease complex associated with PPB. Otorhinolaryngologists and pediatric oncologists should be aware that these two rare conditions occur together and that affected patients may have a familial predisposition to childhood malignant and dysplastic disease.

• 出版日期2010-11