Congenital Adenomatoid Malformation Research Articles

CYSTIC ADENOMATOID MALFORMATION OF THE LUNG IN AN ADULT: A CASE REPORT

CYSTIC ADENOMATOID MALFORMATION OF THE LUNG IN AN ADULT: A CASE REPORT

Primary lung adenocarcinoma in three adolescent patients affected by bone sarcomas

Pediatric primary lung carcinomas are extremely rare. Apart from known associations with congenital adenomatoid malformations, cases of primary lung adenocarcinomas after prolonged treatments of pediatric malignancy have been reported. We describe the morphological and molecular features of three cases of lung adenocarcinoma developed in adolescents aged 8 to 17years during progression of their bone osteosarcoma or Ewing sarcomas. The morphological features overlapped those of adult lung adenocarcinoma including in situ, minimally invasive, and invasive forms. EGFR gene mutations were found in all three cases by targeted next-generation sequencing. The two patients with Ewing sarcoma had no progression of their lung cancer and no further progression of the metastatic bone tumor after additional chemo- and radio-therapy. Conversely, the osteosarcoma patient refused further treatments after thoracic surgery for metastatic osteosarcoma and locally advanced adenocarcinoma and died 2years later of widespread distant metastases. Our results indicate that primary lung cancer might originate in pediatric patients during prolonged adjuvant therapies for primary bone neoplasm, and this possibility should be considered in the presence of suspected lung disease progression to correctly monitor the primary tumor evolution and define the appropriate therapeutic strategy at each time point. If appropriately treated, second primary lung cancer may not affect the patients' prognosis. The pathogenetic mechanisms of these rare lung adenocarcinomas are not clear, but the presence of EGFR mutations in all three cases indicates an oncogene addiction of the lung tumor, rather than a direct cancerogenic effect of the sarcoma-related treatment.

Mucinous adenocarcinoma arising from supratentorial intramedullary neuroenteric cyst with broncho‐pulmonary differentiation

Neuroenteric cysts are benign intradural endoderm cysts lined by gastrointestinal (GI) or tracheobronchial epithelial cells. Their malignant transformation is extremely rare and only six cases have been reported. In these cases, tissue lineage of the cystic endoderm cells giving rise to carcinoma was not clearly identified either as respiratory or as GI type. Herein, we report a case of mucinous adenocarcinoma arising from the neuroenteric cyst with broncho-pulmonary differentiation in the right cerebral hemisphere of a Japanese woman in her late 50s. The cyst wall was entirely lined by the following respiratory epithelial components: stratified bronchial ciliated columnar epithelium with basal cells positive for CK5 and p63, terminal bronchiolar Clara cells positive for thyroid transcription factor (TTF)-1, surfactant B and negative for surfactant C, type I pneumocytes positive for TTF-1, negative for surfactant B and C, and type II pneumocytes positive for TTF-1 and surfactant B and C. In addition, nests of hyperplastic single layered mucinous epithelial cells with bronchial goblet cell phenotype were also demonstrated, and histologic features were almost the same as the pulmonary type I congenital adenomatoid malformation (CCAM) with mucinous epithelial proliferation. The mucinous epithelial nests of type I CCAM are liable to develop mucinous adenocarcinoma and frequently accompany K-ras mutation and expression of p16. However, K-ras mutation and p-16 expression were not detected in this case.

Percutaneous laser ablation under ultrasound guidance for fetal hyperechogenic microcystic lung lesions with hydrops: a single center cohort and a literature review

To evaluate the perinatal outcomes in hydropic fetuses with congenital microcystic pulmonary lesions that underwent percutaneous, invasive, laser therapy. This retrospective study reviews the literature and our experience between 2004 and 2010. Characteristics of the cystic lung lesions, liquor volume (presence of polyhydramnios or not), localization of ablation (vascular vs interstitial) and gestational age at which the procedure was performed were related to outcome (survival). In total, 16 fetuses with congenital lung lesions underwent 'invasive' percutaneous laser ablation, seven performed in our center and nine published cases. Survival rate was higher in fetuses with a subsequent postnatal diagnosis of bronchopulmonary sequestration (87.5%) compared with congenital adenomatoid malformation (28.6%; p = 0.04). The technique of vascular ablation was more successful (100%) than interstitial ablation (25.0%, p < 0.01). Percutaneous vascular laser ablation seems to be effective for bronchopulmonary sequestration in hydropic fetuses. Outcomes were worst following interstitial ablation for microcystic congenital adenomatoid with hydrops.

Diffuse chondroid malformation of the lung: Cases series of a hitherto undescribed congenital lung disease

Congenital chondroid lesions of the lung are rare pathological findings. They are a constant feature of lung malformations such as giant cystic pulmonary chondroid hamartoma, chondroid cystic malformation, and in the "cartilaginous variant" of congenital adenomatoid malformation. All of these present as a large single thoracic mass.We present the cases of three males and two females with hitherto undescribed diffuse chondroid lung disease, all but one of whom had neonatal respiratory distress syndrome with interstitial syndrome on chest radiograph. The pathological findings were similar in all patients, showing large areas of disorganized lung parenchyma containing diffusely distributed mature cartilage islands. With a mean follow-up of 6 years, all patients had a favorable outcome. This diffuse chondroid lung disease appears to be a new entity whose initial presentation mimicked interstitial lung disease without the usual clinical, radiological, and histological features. We speculate that it could be part of a clinical spectrum between malformative chondroid lung cyst and congenital pulmonary airway malformation.

Asymptomatic congenital cystic adenomatoid malformation of the lung: Is it time to operate?

The optimal management of congenital adenomatoid malformation of the lung remains controversial. Prenatal ultrasonographic analysis has increasingly discovered asymptomatic lesions, raising questions about the need for and timing of surgical treatment for asymptomatic congenital adenomatoid malformation. The aim of our study was to analyze the short-term postoperative outcome of symptomatic congenital adenomatoid malformations compared with asymptomatic malformations. All the data of patients presenting with congenital adenomatoid malformations histologically diagnosed and operated on between 1998 and 2005 at our institution were retrospectively reviewed. Patients were divided into 2 groups: group A comprised asymptomatic infants, and group B comprised symptomatic infants. Major outcomes considered were the length of ventilation, pleural drainage, and hospital stay. Postoperative morbidity and mortality were also evaluated. Asymptomatic patients were further stratified for age at the time of the operation to evaluate whether age at surgical intervention affects the outcome. The Fisher's exact and Mann-Whitney tests were used as appropriate. Fifty-seven patients were consecutively treated. Thirty-five patients were given diagnoses of asymptomatic lesions and were enrolled into group A, whereas 22 patients presenting with symptoms were entered into group B. The lengths of ventilation, pleural drainage, and hospital stay were significantly longer in patients with symptomatic congenital adenomatoid malformations. Moreover, symptomatic patients presented with a higher postoperative complication rate. The age-based stratification of asymptomatic children did not show any difference on either postoperative mortality or major outcome considered. Children with congenital adenomatoid malformations operated on when asymptomatic present a better short-term outcome than symptomatic children. In addition, age at the time of the operation does not negatively affect the outcome. Our findings support early surgical treatment for asymptomatic congenital adenomatoid malformation.

Perinatal Imaging in Bronchopulmonary Sequestration

Received September 2, 2008, from the Fetal Medicine Center, Department of Obstetrics and Gynecology, Clinica Las Condes, Santiago, Chile. Revision requested September 8, 2008. Revised manuscript accepted for publication October 7, 2008. I thank Ximena Ortega, MD, for evaluating the prenatal magnetic resonance imaging; Jose M. Cortes, MT, and Juan A. Escaffi, MD, for performing and evaluating the angiographic computed tomography; and Angel Blanco, MD, Jose L. Martinez, MD, and Hernan Villalon, MD, for their substantial contribution to the postnatal care of the infant reported here. This work was supported by the Sociedad Profesional de Medicina Fetal “Fetalmed” Limitada, Chile. Address correspondence to Waldo Sepulveda, MD, Fetal Medicine Center, Clinica Las Condes, Casilla 208, Santiago 20, Chile. E-mail fetalmed@yahoo.com Abbreviations CCAM, cystic congenital adenomatoid malformation; CT, computed tomography; MRI, magnetic resonance imaging 30-year-old woman, gravida 2, para 1, was referred to our center at 21 weeks’ gestation after the prenatal detection of an echogenic mass in the right lung during a second-trimester anatomy scan. Her medical and obstetric histories were unremarkable; the current pregnancy had been otherwise uncomplicated; and the first-trimester scan at 11 weeks confirmed the dates and a normal nuchal translucency thickness measurement. Sonographic examination at referral showed adequate fetal growth and a normal amniotic fluid volume. Detailed examination of the fetal anatomy revealed a predominantly solid echogenic lesion with several small cysts, the largest measuring 3 mm, occupying the lower two-thirds of the right lung (Figure 1, A and B). There were no signs of a mediastinal shift, cardiac compression, abnormal venous return, or additional fetal structural anomalies. Color Doppler sonography depicted a large arterial vessel feeding the mass, which originated from the abdominal aorta (Figure 1C). The diagnosis of pulmonary sequestration was entertained, but the presence of small cysts within the mass also suggested a hybrid lesion associated with cystic congenital adenomatoid malformation (CCAM) of the lung. The pregnancy was followed with serial scans, which showed a slight reduction of the size of the mass, a normal amniotic fluid volume, and no signs of fetal hydrops. Fetal magnetic resonance imaging (MRI), performed at 31 weeks, confirmed the presence of a predominantly solid mass with small cysts in the fetal right lung and a feeding vessel arising from the abdominal aorta and crossing the diaphragm (Figure 2). At 38 weeks, a male neonate was delivered vaginally, weighing 3200 g and with Apgar scores of 9 and 10 at 1 and 5 minutes, respectively. There were no neonatal respiratory complications and the infant remained asymptomatic. Angiographic computed tomography (CT) was per-

P30.06: Prenatal and postnatal management of congenital cystic adenomatoid lung malformation diagnosed by ultrasound and MR imaging: two case reports

P30.06: Prenatal and postnatal management of congenital cystic adenomatoid lung malformation diagnosed by ultrasound and MR imaging: two case reports

Tuberculosis in congenital adenomatoid malformation - A rare presentation

We present a clinical case of congenital adenomatoid malformation associated with a pneumonitic process of tubercular character operated successfully by means of right lower lobectomy. Congenital adenomatoid malformations generally are as­ymptomatic detected accidentally on skiagrams done for some other purpose, or may present as compressive phenomena affecting the surrounding structures, or sometimes by secondary infection due to supervening bacterial, mycotic or as in our case tubercular infection. Similar presentation of congenital adenomatoid mal­formations secondarily infected with tuberculosis is very rare.

Postnatal rib deformities in patients prenatally treated with thoracoamniotic shunt for type I congenital cystic adenomatoid malformation

Treatment with thoracoamniotic (TA) shunting is warranted in macrocystic congenital adenomatoid malformations (CCAM) when hydrops results and cystic fluid reaccumulates following aspiration. We report on a series of patients with an unusual complication following thoracoamniotic shunt placement.

The Role of Emergency Thoracoscopy in the Management of Congenital Cystic Adenomatoid Malformation of the Lung Associated with Oesophageal Atresia

Congenital cystic adenomatoid malformation of the lung associated with oesophageal atresia is exceptional. The authors describe a case of a mixed type I - II congenital cystic adenomatoid malformation of the left lung associated with oesophageal atresia and tracheooesophageal fistula in a male infant. The interesting aspect of this case is not only the extremely rare association - only two reports in the literature - but the surgical choices. In fact, two weeks after surgical repair of the oesophageal atresia, the growth of the cystic volume of the congenital adenomatoid malformation made respiratory weaning very difficult, and it was therefore decided to solve the respiratory distress by opening the tensional cysts using a thoracoscopic access. The advantage of this treatment was that it decompressed the underlying healthy lung tissue and permitted the expansion of the normal lobar parenchyma. This is a palliative approach that allows the mandatory definitive resection of the affected lung lobe to be postponed until a later time.

Prenatal diagnosis of pulmonary sequestration using three‐dimensional power Doppler ultrasound

To investigate the contribution of three-dimensional power Doppler ultrasound to the prenatal diagnosis of pulmonary sequestration. Prenatal three-dimensional power Doppler ultrasound was used to screen for an abnormal pulmonary blood supply in eight fetuses with hyperechogenic lung lesions and to image the pulmonary blood supply in 50 normal controls. A comparison was made with postnatal findings. Postnatally the eight pulmonary lesions were found to be an isolated pulmonary sequestration (n = 3), a microcystic congenital adenomatoid malformation (n = 4), and a mixed (macrocystic and microcystic) congenital adenomatoid malformation (n = 1). Prenatal three-dimensional power Doppler ultrasound demonstrated an abnormal blood supply in all cases of pulmonary sequestration and in none of the other cases. Among the three cases that turned out to be pulmonary sequestrations, conventional two-dimensional ultrasound failed to identify the feeding vessel in one case and identified it at a later stage of gestation than did three-dimensional power Doppler in the other two. Prenatal three-dimensional power Doppler ultrasound may be useful in identifying the feeding vessel and thus establishing the diagnosis of pulmonary sequestration in the presence of a hyperechogenic pulmonary lesion, allowing its differentiation from congenital cystic adenomatoid malformation.

USCAP Specialty Conference, Case 1: Type I Pleuropulmonary Blastoma

Pleuropulmonary blastoma (PPB) was defined in 1988 by Manivel et al. in a series describing 11 intrathoracic pulmonary neoplasms in young children. The PPB is a unique peripheral pulmonary or pleural-based tumor of childhood that is characterized in its earliest form as a bland-appearing multiloculated cyst with small foci of tumor cells and in later forms as mixed and predominantly primitive, overtly malignant neoplasms. Prior to the introduction of the PPB as a distinct entity, this tumor had been reported in the literature as pulmonary blastoma, sarcoma arising in mesenchymal cystic hamartoma, embryonal sarcoma, malignant mesenchymoma, primary pulmonary rhabdomyosarcoma and rhabdomyosarcoma arising in congenital adenomatoid malformation or bronchogenic cyst. Over the past 15 years, PPB has come to be recognized in centers around the world. With the establishment of the Pleuropulmonary Blastoma Registry by Jack Priest, MD, and colleagues, there has been improved understanding of this rare pediatric neoplasm.

Pulmonary Resection in Infants for Congenital Pulmonary Malformation

To review our experience with indications, timing, and results of pulmonary resection in infants. Retrospective cohort study. Thoracic Surgery Department, Chest Diseases Hospital, Kuwait. Forty-seven infants with congenital lung diseases were treated with pulmonary resection from January 1993 to December 2000. The mean age at the time of diagnosis was 90 days (range, 7 days to 11 months). Thirty-four patients were male (72%). Congenital lobar emphysema, congenital cystic adenomatoid malformation, pulmonary sequestration, and atelectasis were seen in 26, 10, 6, and 5 patients, respectively. The indications for surgery were respiratory distress in 32 patients (68%), respiratory tract infections in 12 patients (26%), and the presence of asymptomatic chest radiographic findings in 3 patients (6%). A lobectomy was performed in 42 patients (89%), bilobectomy in 2 patients (4%), left pneumonectomy in 1 patient (2%), and excision of a mass in 2 patients with extralobar sequestration (4%). An emergency lobectomy was performed in seven patients (15%). Only one postoperative death occurred following a left pneumonectomy for extensive congenital adenomatoid malformation due to pulmonary hypertension. Four patients (9%) had postoperative complications: atelectasis (n = 2), prolonged air leak (n = 1), and pneumothorax (n = 1). Mean follow-up was 4 years (range, 1 to 5 years) for all patients. None of the patients had any physical limitations. Pulmonary resection is indicated for the majority of patients with congenital lung malformations. In case of severe respiratory distress, an emergency lobectomy can be performed safely.

P323: Congenital cyst adenomatoid malformation (CCAM) and 3 years follow-up of children

P323: Congenital cyst adenomatoid malformation (CCAM) and 3 years follow-up of children

Value of Autopsy in Nonimmune Hydrops Fetalis: Series of 51 Stillborn Fetuses

Nonimmune hydrops fetalis (NIHF) is used to describe fetuses and newborns with generalized edema and cavity effusions. It is helpful to alert physicians about the presence of anemia, heart failure, and/or hypoproteinemia, but this diagnosis is frequently overlooked. We reviewed the autopsy files from 1990 to 2000, selected all cases with NIHF including clinical information (with maternal laboratory tests and ultrasound), and classified patients by etiology. Among 840 stillborn autopsies during the 11-year period, we found 51 with NIHF (6.07%). The clinical summary had mentioned hydrops in 14 patients and the etiology in another 7 by fetal ultrasonography, but without addressing the possibility of hydrops. In the remaining 30 cases neither hydrops nor an etiology was mentioned. Other pertinent diagnoses were maternal diabetes mellitus (4), congenital heart disease (3), and cystic hygroma (2). The following diagnoses were made in one instance each: cardiac tumor, twin transfusion syndrome, congenital adenomatoid malformation, syphilis, Turner syndrome, and cerebral arteriovenous malformation. Postmortem and placental examination confirmed the following etiologies: congenital infections (17); placental pathology significant enough to explain NIHF (10); cardiovascular diseases (8) (further classified as congenital heart disease [3], rhabdomyoma [1], and vascular malformations [4]); chromosomal abnormalities (6); uncontrolled maternal diabetes (4); intrathoracic lesions (2); prune-belly syndrome (2); and idiopathic NIHF (2). Only 3.9% of the cases studied had no identifiable etiology. The cause of hydrops was confirmed by autopsy in 47 fetuses (92%), which further supports the importance of performing an autopsy. Thirty-two cases (62.74%) had placental abnormalities helpful to the etiology (parvovirus, syphilis, Turner's syndrome, etc.). In 20 instances, the clinical summary had no mention of either hydrops or any of the diseases leading to it. The autopsy in conjunction with placental examination and fetal ultrasound represent the best combination to determine the etiology of NIHF among stillborn fetuses.

Histochemical analysis of mucous cells of congenital adenomatoid malformation of the lung: insights into the carcinogenesis of pulmonary adenocarcinoma expressing gastric mucins.

Adenocarcinomas expressing gastric mucins often are accompanied by ectopic gastric mucosa or pyloric metaplasia. We have previously described mucinous bronchioloalveolar carcinoma (mucinous BAC) producing gastric mucins. In the lung tissue, mucous cells seemingly similar to gastric mucous cells are present in congenital adenomatoid malformation (CAM). We assessed 26 cases of CAM morphologically and histochemically. Mucous cells were detected in 12 of 26 cases. These mucous cells displayed papillary growth in cystic spaces and proliferated along alveolar walls. Mucous cells in the papillary, configuration stained with galactose oxidase cold thionine Schiff reaction, and those in indented portions stained with paradoxical concanavalin A stain in all 8 cases and with pepsinogen II in 5 of 8 cases, which were available for histochemical analysis. Pepsinogen I was negative. Mucous cells in CAM were identical to those of pyloric mucosa and could be considered candidates for the origin of mucinous BAC producing gastric mucins.

A series of 17 cases of congenital cystic adenomatoid malformation of the lung: management and outcome.

During a 5-year-period, 17 cases of congenital adenomatoid malformation of the lung were observed in the Department of Pediatric Surgery of Bologna University-S. Orsola-Malpighi Hospital; 16 cases were diagnosed in utero by ultra-sound. 13 patients had prenatal diagnosis between 21 and 23 weeks of gestation; 2 cases were diagnosed at 25 weeks and another one at 26 weeks. The other case came from another hospital, and the diagnosis was accidentally detected postnatally. In 3 cases the parents decided to terminate the pregnancy 3 cases had spontaneous improvement during the last weeks of gestation, and were perfectly normal at birth. One case was lost to follow-up; all remaining patients underwent resection. Among these patients only one was a nonsurvivor, while 9 have completely recovered. However, one patient developed persistent pulmonary hypertension, which could successfully be treated with drugs, another underwent laser treatment for laryngeal stenosis due to intubation. A special epidemiological information: 13 out 17 cases (76.5%) were female.

Congenital adenomatoid disease of the lung: prenatal diagnosis and perinatal management

Prenatal ultrasonographic (US) detection of congenital adenomatoid malformation (CAM) was made in 18 fetuses at 17 - 36 weeks' gestation and managed in our institution during a 10-year period (1985-1994). The lesion was left-sided in 13 cases, right-sided in 4, and bilateral in 1. According to Stocker's classification, 12 cases were type I, 4 type II, and 2 type III. The prenatal course was followed with serial US examinations in 13 cases; the size of the lesion was stable in 8 and decreased in 5. Mediastinal shift was usually observed, and amniotic fluid volume was increased in 4 cases. One fetus was aborted. Six infants presented with respiratory distress syndrome and required neonatal surgery; delayed surgery was performed in 9 cases. Spontaneous regression of the lesion was observed on follow-up in 2 cases. Surgery consisted in lobectomy in 8 cases and segmentectomy in 6. The presence of fetal hydrops, type III lesions, and bilateral lung involvement are prenatal factors known to be associated with a poor prognosis. However, this series and a review of the literature suggest that caution should be observed with regard to the initial impression when counseling the parents regarding prognosis.

Advantages of prenatal diagnosis and early surgery for congenital cystic disease of the lung.

Prenatal ultrasonography makes possible the diagnosis of congenital cystic lung disease in utero, enabling elective surgery for the lesions early in infancy before development of respiratory distress or potentially life-threatening infection. From 1986 to 1994, ten infants with congenital lung cyst underwent corrective surgery. Nine of them had a prenatal diagnosis of congenital lung cyst confirmed by ultrasound or computed tomography (CT) after birth. In 7 of these infants, congenital adenomatoid malformation (CAM) was found at surgery, and pulmonary sequestration was found and removed in two other infants. Two of the nine infants had respiratory distress at birth; the seven others were asymptomatic when surgery was performed (between 2 and 6 months of age). In 4 out of 9 newborn a plain chest radiography at birth was normal and a CT scan only showed the cysts prenatally observed at ultrasound. Intraoperative measurement of pulmonary function in the asymptomatic infants demonstrated significant improvement after resection of the affected lobe. One other infant had normal lung fields at the time of prenatal diagnosis. However, a severe acute pneumonia with abscess of the lobe became life-threatening at 4.5 months. CT showed a large congenital lung cyst, treated initially with antibiotics and extirpated at age 6 months with great difficulty. Pulmonary function did not improve postoperatively. Examinations on follow-up (8 months-8 years; 5 of 10 infants longer than 4 years) have shown that all 10 of the infants are healthy and have normal pulmonary function. Pneumonia in the controlateral lung was found in 3 children (3-6 years after the operation), one of them had respiratory distress at birth and another had the life-threatening pneumonia preoperatively. Thus, early surgery is indicated when prenatal diagnosis of congenital cystic disease has been confirmed after birth.