Congenital pulmonary airway malformation (congenital cystic adenomatoid malformation) with multiple extrapulmonary anomalies: Autopsy report of a fetus at 19 weeks of gestation

Truc T. Pham, Kurt Benirschke, Eliezer Masliah, J. Thomas Stocker, Eunhee S. Yi

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Congenital pulmonary airway malformation, or congenital cystic adenomatoid malformation, is postulated to be a disorder of pulmonary airway morphogenesis and encompasses 5 different types with distinct levels or stages of tracheobronchial development. We present a unique case of type 2 congenital pulmonary airway malformation with a previously undocumented combination of multiple extrapulmonary anomalies, featuring ipsilateral multicystic renal dysgenesis, contralateral renal agenesis, and ovarian germ cell hypoplasia, diagnosed in a 19-week gestational age fetus by autopsy. Epithelial cells comprising the pulmonary lesions were positive for thyroid transcription factor-1, surfactant protein-B, and cytokeratin-7 but negative for cytokeratin-20 immunostainings, with the pattern seen in normal terminal bronchioles. Chromosomal analysis showed a normal female karyotype, despite a high estimated risk for Down syndrome suggested by the low maternal serum α-fetoprotein level.

Original languageEnglish (US)
Pages (from-to)661-666
Number of pages6
JournalPediatric and Developmental Pathology
Volume7
Issue number6
DOIs
StatePublished - Dec 2004
Externally publishedYes

Fingerprint

Congenital Cystic Adenomatoid Malformation of Lung
Autopsy
Fetus
Pregnancy
Lung
Keratin-20
Fetal Proteins
Keratin-7
Bronchioles
Down Syndrome
Karyotype
Morphogenesis
Germ Cells
Surface-Active Agents
Gestational Age
Epithelial Cells
Mothers
Kidney
Serum

Keywords

  • α-fetoprotein
  • Congenital cystic adenomatoid malformation
  • Congenital pulmonary airway malformation
  • Cytokeratin-20
  • Cytokeratin-7
  • Renal agenesis and dysgenesis
  • Surfactant
  • Thyroid transcription factor-1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

Cite this

Congenital pulmonary airway malformation (congenital cystic adenomatoid malformation) with multiple extrapulmonary anomalies : Autopsy report of a fetus at 19 weeks of gestation. / Pham, Truc T.; Benirschke, Kurt; Masliah, Eliezer; Thomas Stocker, J.; Yi, Eunhee S.

In: Pediatric and Developmental Pathology, Vol. 7, No. 6, 12.2004, p. 661-666.

Research output: Contribution to journalArticle

@article{11383c505f134ebcad500ef43b34f17d,
title = "Congenital pulmonary airway malformation (congenital cystic adenomatoid malformation) with multiple extrapulmonary anomalies: Autopsy report of a fetus at 19 weeks of gestation",
abstract = "Congenital pulmonary airway malformation, or congenital cystic adenomatoid malformation, is postulated to be a disorder of pulmonary airway morphogenesis and encompasses 5 different types with distinct levels or stages of tracheobronchial development. We present a unique case of type 2 congenital pulmonary airway malformation with a previously undocumented combination of multiple extrapulmonary anomalies, featuring ipsilateral multicystic renal dysgenesis, contralateral renal agenesis, and ovarian germ cell hypoplasia, diagnosed in a 19-week gestational age fetus by autopsy. Epithelial cells comprising the pulmonary lesions were positive for thyroid transcription factor-1, surfactant protein-B, and cytokeratin-7 but negative for cytokeratin-20 immunostainings, with the pattern seen in normal terminal bronchioles. Chromosomal analysis showed a normal female karyotype, despite a high estimated risk for Down syndrome suggested by the low maternal serum α-fetoprotein level.",
keywords = "α-fetoprotein, Congenital cystic adenomatoid malformation, Congenital pulmonary airway malformation, Cytokeratin-20, Cytokeratin-7, Renal agenesis and dysgenesis, Surfactant, Thyroid transcription factor-1",
author = "Pham, {Truc T.} and Kurt Benirschke and Eliezer Masliah and {Thomas Stocker}, J. and Yi, {Eunhee S.}",
year = "2004",
month = "12",
doi = "10.1007/s10024-004-1007-y",
language = "English (US)",
volume = "7",
pages = "661--666",
journal = "Pediatric and Developmental Pathology",
issn = "1093-5266",
publisher = "Society for Pediatric Pathology",
number = "6",

}

TY - JOUR

T1 - Congenital pulmonary airway malformation (congenital cystic adenomatoid malformation) with multiple extrapulmonary anomalies

T2 - Autopsy report of a fetus at 19 weeks of gestation

AU - Pham, Truc T.

AU - Benirschke, Kurt

AU - Masliah, Eliezer

AU - Thomas Stocker, J.

AU - Yi, Eunhee S.

PY - 2004/12

Y1 - 2004/12

N2 - Congenital pulmonary airway malformation, or congenital cystic adenomatoid malformation, is postulated to be a disorder of pulmonary airway morphogenesis and encompasses 5 different types with distinct levels or stages of tracheobronchial development. We present a unique case of type 2 congenital pulmonary airway malformation with a previously undocumented combination of multiple extrapulmonary anomalies, featuring ipsilateral multicystic renal dysgenesis, contralateral renal agenesis, and ovarian germ cell hypoplasia, diagnosed in a 19-week gestational age fetus by autopsy. Epithelial cells comprising the pulmonary lesions were positive for thyroid transcription factor-1, surfactant protein-B, and cytokeratin-7 but negative for cytokeratin-20 immunostainings, with the pattern seen in normal terminal bronchioles. Chromosomal analysis showed a normal female karyotype, despite a high estimated risk for Down syndrome suggested by the low maternal serum α-fetoprotein level.

AB - Congenital pulmonary airway malformation, or congenital cystic adenomatoid malformation, is postulated to be a disorder of pulmonary airway morphogenesis and encompasses 5 different types with distinct levels or stages of tracheobronchial development. We present a unique case of type 2 congenital pulmonary airway malformation with a previously undocumented combination of multiple extrapulmonary anomalies, featuring ipsilateral multicystic renal dysgenesis, contralateral renal agenesis, and ovarian germ cell hypoplasia, diagnosed in a 19-week gestational age fetus by autopsy. Epithelial cells comprising the pulmonary lesions were positive for thyroid transcription factor-1, surfactant protein-B, and cytokeratin-7 but negative for cytokeratin-20 immunostainings, with the pattern seen in normal terminal bronchioles. Chromosomal analysis showed a normal female karyotype, despite a high estimated risk for Down syndrome suggested by the low maternal serum α-fetoprotein level.

KW - α-fetoprotein

KW - Congenital cystic adenomatoid malformation

KW - Congenital pulmonary airway malformation

KW - Cytokeratin-20

KW - Cytokeratin-7

KW - Renal agenesis and dysgenesis

KW - Surfactant

KW - Thyroid transcription factor-1

UR - http://www.scopus.com/inward/record.url?scp=12544256407&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=12544256407&partnerID=8YFLogxK

U2 - 10.1007/s10024-004-1007-y

DO - 10.1007/s10024-004-1007-y

M3 - Article

C2 - 15630540

AN - SCOPUS:12544256407

VL - 7

SP - 661

EP - 666

JO - Pediatric and Developmental Pathology

JF - Pediatric and Developmental Pathology

SN - 1093-5266

IS - 6

ER -