Mesenchymal cystic hamartoma of the lung: A case report

Rationale:Mesenchymal cystic pulmonary hamartoma is a rare type of hamartoma that has been reported in all cases in the literature. Most patients were reported to have spontaneous pneumothorax and were treated by surgery, and finally confirmed to be caused by rupture of the cystic hamartoma. Here, we report a case of mesenchymal cystic pulmonary hamartoma detected using computed tomography (CT) during a health check-up without obvious symptoms.Patient concerns:A 60-year-old woman was detected using CT during her health check-up. She was a non-smoker and had no symptoms or history of specific diseases.Diagnosis:The final pathological examination confirmed that the lesion was a mesenchymal cystic hamartoma of the lung.Interventions:A uniportal video-assisted thoracic surgery wedge resection was performed for biopsy.Outcomes:The patient recovered smoothly and was discharged on postoperative day 3.Lessons:For cystic pulmonary hamartoma, it is usually difficult to make a correct diagnosis using CT imaging. A chest magnetic resonance imaging examination may be helpful for differentiation diagnosis before video-assisted thoracic surgery biopsy.     

Bronchoscopic features and bronchoscopic intervention for endobronchial hamartoma

Background and objective: Bronchoscopic resection of endobronchial hamartomas has been reported to have a favourable outcome. This study describes the bronchoscopic features of endobronchial hamartoma and reports the clinical outcome of bronchoscopic intervention. Methods: A retrospective analysis was conducted of patients with histologically proven endobronchial hamartomas, diagnosed in the 10‐year period 1999–2009 to elucidate the clinical, radiological and bronchoscopic features of hamartoma and to describe the clinical outcomes. Results: Seventeen of the 135 patients with pulmonary hamartomas were diagnosed as having endobronchial hamartomas. CXR was abnormal in 11 of the 17 patients. On chest CT (n = 16), the median diameter of the lesion was 15.6 mm. Calcification and areas of focal fat in the lesion, the diagnostic CT findings of pulmonary hamartoma, were found in two of 16 (12.5%) patients. At bronchoscopy (n = 16), all tumours had a mass appearance and most were smooth surfaced round masses (50.0%) with 18.8% having a ‘stalk’. Bronchoscopic forceps biopsies were performed in 13 patients, which resulted in five patients (38.5%) being diagnosed with endobronchial hamartoma. Fifteen patients were treated with rigid or flexible bronchoscopic resection, one had lobectomy, and one had no intervention. No procedure‐related mortalities or late complications developed. Conclusions: Bronchoscopic intervention appears to be a safe and effective method to resect endobronchial hamartomas.     

Multicystic biliary hamartoma with extremely elevated CA19-9: a case report

Multicystic biliary hamartoma (MCBH) is a rare cystic disease of the liver. We herein report a case of MCBH associated with extremely elevated levels of serum carbohydrate antigen (CA) 19-9. A 53-year-old man was referred to our hospital because of extremely elevated CA19-9 levels (more than 12,000?U/mL). Enhanced abdominal computed tomography and magnetic resonance imaging (MRI) revealed a multicystic tumor with a calcified wall in the left lobe of the liver, although no apparent intracystic nodule was detected. Because of the possibility of a malignant tumor, such as intraductal papillary neoplasm of the bile duct or cystadenocarcinoma, the patient underwent left hepatectomy. Based on the postoperative pathological findings, the lesion was diagnosed as MCBH. The serum CA19-9 level drastically decreased after surgery. We encountered a rare case of MCBH with extremely elevated CA19-9 levels.     

The Cowden syndrome: a clinical and genetic study in 21 patients

An analysis of the findings in 21 patients with the Cowden syndrome or the multiple hamartoma syndrome is presented. The Cowden syndrome is a cancer-associated genodermatosis with characteristic mucocutaneous findings and a wide array of associated abnormalities including a high incidence of breast cancer in female patients. Genetic studies confirmed autosomal dominant inheritance with a high penetrance in both sexes and moderate interfamilial and intrafamilial differences in the expressivity of a number of symptoms. Familial occurrence was present in 4 of the 7 families. There was a strong predominance of female patients (6:1), which may be fortuitous. Mucocutaneous changes were the most constant (100% incidence) and characteristic findings; they almost invariably became manifest in the second decade. Four of our 18 female patients (22%) were treated for breast cancer, a lower incidence than reported previously. No increased incidence of other types of malignancies was found. Craniomegaly (high head circumference) was found to be the most common extracutaneous manifestation (80% incidence); craniomegaly appears to be an important early marker. We also found high incidences of gastrointestinal polyps (approximately 60%) and cutaneous fibromas (76%), while the incidence of thyroid abnormalities, thus far regarded as the most common extracutaneous finding, was similar to that reported previously (62%). G-banded karyotype and preliminary DNA-repair studies revealed no clear abnormalities. No linkage with the loci of HLA, and immunoglobulin haplotypes was found.     

Mesenchymal Hamartoma of Chest Wall in Infancy Natural History of Two Cases

Two cases of mesenchymal hamartoma of chest wall in infancy are reported. These distinctive and rare lesions arise in the antenatal period, present at birth OT in early life as chest wall masses with marked rib deformation, and may produce respiratory compromise through encroachment on the chest cavities. Histologically composed of chondroid and primitive mesenchymal elements with giant-cell formation, endochondral ossification, and maturation to trabecular bone, they exhibit some features of aneurysmal bone cyst. Because of their cellularity and proliferative appearance, they are often misinterpreted as sarcomas; however, they pursue a benign course and can be well managed surgically. OUT cases possessed multiple chest wall masses that were clinically apparent at birth and sequentially resected over a period of several months, creating an opportunity to document their hitherto unreported histologic evolution. Their pattern of maturation is in keeping with a hamartomous malformation.     

Spinal hamartoma associated with spinal dysraphism

Objects The aims of the study were (1) to review the pathological findings of spinal lipomatous masses associated with congenital spinal dysraphism and (2) to discuss the pathological diagnosis.Methods The pathological records of 47 patients at our institution were reviewed, and three illustrative cases were presented.Conclusion Spinal tumorous lesions associated with spinal dysraphism have been traditionally described as lipoma since they are composed mostly of fatty tissue. However, they are different from lipomas arising in other part of the body in that they often contain various tissues of ecto- and mesodermal origin. In our study, we detected such heterotopic components in 24 out of 47 cases. Although they are also similar to teratoma, it is generally accepted that they are malformative lesions which lack neoplastic potential. We therefore should diagnose them as hamartoma rather than lipoma or teratoma.     

Pathology of Lipomatous Lesions in Proteus Syndrome

Proteus syndrome is an extremely rare, complex hamartomatous disorder with markedly variable clinical expression. We present a case of Proteus syndrome with multiple disfiguring soft tissue masses that were present since early childhood. The lesions involved predominantly the right side of the body and included scoliosis, macrodactyly, and limited hyperostosis in the right foot. There was no evidence of cranial or skin lesions. The patient underwent multiple resections of soft tissue masses, including an amputation of the right foot because of severe gait disturbance. All specimens exhibited lipomatous lesions that were probably hamartomatous rather than neoplastic. She carried a diagnosis of neurofibromatosis for more than a decade, but a re-evaluation of clinical features and pathological findings prompted the diagnosis of Proteus syndrome. We believe that a more informed evaluation of the pathology material may help to identify this rare entity. Received May 6, 1997; accepted October 28, 1997.