Case Of Pleuropulmonary Blastoma Research Articles

横隔膜ヘルニア，先天性肺気道奇形（CPAM）と鑑別を要したDICER1遺伝子変異を伴う胸膜肺芽腫の一例

横隔膜ヘルニア，先天性肺気道奇形（CPAM）と鑑別を要したDICER1遺伝子変異を伴う胸膜肺芽腫の一例

A Case of Pleuropulmonary Blastoma That Developed Into Adenomatous Goiter After Multimodal Treatment Including High-Dose Chemotherapy With Peripheral Blood Stem Cell Transplantation

A Case of Pleuropulmonary Blastoma That Developed Into Adenomatous Goiter After Multimodal Treatment Including High-Dose Chemotherapy With Peripheral Blood Stem Cell Transplantation

Pleuropulmonary blastoma of adults: a clinicopathological analysis

To report two cases of pleuropulmonary blastoma (PPB) of adults and improving the understanding of this tumor. The clinicopathological features of two cases of adult PPB were examined by light microscope and an immunohistochemical study. As a rare malignant mesenchymal tumor, PPB arose from primitive cells of lung, pleura and mediastinum. Consisting of primitive undifferentiated sarcoma cells and few epithelial cells, the tumor was positive for mesenchymal differentiated markers by immunohistochemistry. PPB is a rare malignant embryonal tumor. The diagnosis of this tumor is rather difficult since it lacks pathomorphological or immunohistochemical features.

Familial pleuropulmonary blastoma in Australia

We present three cases of pleuropulmonary blastoma (PPB) in Australian children. Each had a family history of childhood tumors which collectively included PPB, infant lung cyst, cystic nephroma, medullo-epithelioma and a Sertoli-Leydig ovarian tumor. Two of the patients also had additional malignancies: a concurrent bladder rhabdomyosarcoma and a post therapy non-PPB malignant lung tumor. In two cases, the family histories were elicited years after the PPB diagnosis. Archived pathology material allowed revision of pathologic diagnoses from decades earlier. These cases illustrate the importance of detailed inquiry into family medical history and the pleiotropy of the PPB-related familial cancer predisposition syndrome, which appears to result from heterozygous DICER1 mutations.

THIRTEEN-YEAR-OLD CHILD WITH A MALIGNANT CHEST TUMOR CLINICOPATHOLOGIC CONFERENCE

A case of pleuropulmonary blastoma in a 13-year-old child, exposed to the Chernobyl disaster while in-utero, is presented and discussed by both clinician and pathologist, in this traditional clinical-pathologic conference. The discussion includes the differential diagnoses of chest mass in children.

Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma

Pleuropulmonary blastomas are rare malignant intrathoracic tumors of early childhood. They appear as a pulmonary- and/or pleural-based mass and their pathogenesis and relationship to other pediatric solid tumors is not well understood. In this study, paraffin-embedded material of five cases of pleuropulmonary blastoma was analyzed for genetic alterations by comparative genomic hybridization and five genetic loci by fluorescence in situ hybridization. Comparative genomic hybridization identified aberrations in all pleuropulmonary blastomas, including four amplifications in three tumors at chromosomes 5q33–34, 11q22.2–ter, 15q25–ter, and 19q11–13.2. The most frequent DNA gains involved 8q11–22.2 (four cases) and 20q (two cases), whereas the most common losses included 9p21–24 (two cases) and 11p14 (three cases). Chromosome 8 gains were confirmed by fluorescent in situ hybridization, resulting in the detection of up to five copies of chromosome 8 centromeres per nucleus. In the two surviving patients, chromosome 8 gains were the only genetic abnormality, suggesting that this might be an early event in pleuropulmonary blastoma carcinogenesis. The identification of new genetic alterations as well as the confirmation of previously reported ones (especially 8q gains) in pleuropulmonary blastoma should help to improve our understanding of both the molecular mechanisms underlying the tumorigenesis of pleuropulmonary blastoma and the relationship of pleuropulmonary blastoma with other pediatric tumors.

An Aggressive Childhood Tumor Mimicking Pleural Empyema: Pleuropulmonary Blastoma

We report a case of pleuropulmonary blastoma in a child initially diagnosed with encysted pleural empyema. She was treated with combination chemotherapy including ifosfamide, etoposide, vincristine, adriamycin, actinomycin-D, and cyclophosphamide after surgical excision.