title: Familial case of prenatally diagnosed intralobar and extralobar sequestrations with cystadenomatoid change.
abstract: Hybrid lesions are part of a spectrum of rare pulmonary diseases that are characterized as having elements of both congenital pulmonary airway malformation and bronchopulmonary sequestration. Fetal thoracic masses arise from alterations during lung development that are separated by timing of the inciting event and are often associated with an underlying degree of bronchial atresia. There are a handful of documented reports of sequestrations occurring in siblings, but no known reports of prenatally diagnosed lesions occurring in families. We present a case of 2 siblings diagnosed prenatally with fetal thoracic lesions who underwent postnatal resection revealing hybrid lesions on pathologic examination. Newer radiologic techniques have increased our ability to detect these masses prenatally, as well as follow them throughout pregnancy to determine their natural history. Ongoing laboratory investigation into the etiology of congenital lung lesions has brought forth more questions and suggested a familial component at a cellular level that has not yet been fully discovered. We reviewed the current literature of factors contributing to the development of congenital lung lesions and suggest that there is a familial link in certain patient populations where screening may be indicated.
authors.affiliation: Department of Surgery, Children's Hospital Boston and Harvard Medical School, Boston, MA 02115, USA.
authors.forename: Justin D
authors.initials: JD
authors.lastname: Klein
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Turner
authors.forename: Lori J
authors.initials: LJ
authors.lastname: Dobson
authors.forename: Harry
authors.initials: H
authors.lastname: Kozakewich
authors.forename: Russell W
authors.initials: RW
authors.lastname: Jennings
mesh_terms: D000328:Adult; D001998:Bronchopulmonary Sequestration / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D015615:Cystic Adenomatoid Malformation of Lung, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D005260:Female; D047109:Fetal Development / Q000502:physiology; D020022:Genetic Predisposition to Disease; D006801:Humans; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors; D016216:Ultrasonography, Prenatal