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Turk Gogus Kalp Damar Cerrahisi Dergisi Jan 2020Pleuropulmonary blastoma is a rare and aggressive childhood tumor of mesenchymal origin. It has a poor prognosis and mainly classified as cystic (type 1), mixed type...
Pleuropulmonary blastoma is a rare and aggressive childhood tumor of mesenchymal origin. It has a poor prognosis and mainly classified as cystic (type 1), mixed type (type 2), and solid (type 3). Herein, we present two cases of pleuropulmonary blastoma type 3 presenting with pneumothorax, a rare clinical presentation of pleuropulmonary blastoma, which was successfully treated with surgery.
PubMed: 32175165
DOI: 10.5606/tgkdc.dergisi.2020.18215 -
Archivos Argentinos de Pediatria Feb 2016Pleuropulmonary blastoma is a rare lung tumor of childhood that can occur with cystic or solid lesions, as a radiological finding with or without respiratory symptoms....
Pleuropulmonary blastoma is a rare lung tumor of childhood that can occur with cystic or solid lesions, as a radiological finding with or without respiratory symptoms. We report the case of a 2 year old toddler in his first pulmonary obstructive episode with suspected toracic malformation of the left upper lobe in his chest x-ray and tomography. Surgery was performed showing cystic malformation of the left upper lobe. We received the pathology report with diagnosis of type I pleuropulmonary blastoma. He began follow-up with Oncology initiating treatment with cyclophosphamide and vincristine, well tolerated. Currently, there is controversy about the management of congenital lung cysts, tilting the balance towards the surgical procedure because of serious difficulties in differentiating benign pulmonary cysts from pleuropulmonary blastoma without histopathologic review.
Topics: Child, Preschool; Humans; Lung Neoplasms; Male; Pulmonary Blastoma; Tomography, X-Ray Computed
PubMed: 26914086
DOI: 10.5546/aap.2016.e25 -
Pathobiology : Journal of... 2021Pleuropulmonary blastoma (PPB) is a rare sarcomatous malignancy involving the lung and pleura which occurs in early childhood. Cystic PPB in the early stage can be...
INTRODUCTION
Pleuropulmonary blastoma (PPB) is a rare sarcomatous malignancy involving the lung and pleura which occurs in early childhood. Cystic PPB in the early stage can be misdiagnosed as other cystic diseases. Early detection of this entity is important for appropriate treatment and prevention of disease progression. Hotspot mutations in the ribonuclease IIIb (RNase IIIb) domain of DICER1 have been reported to have a crucial role as genetic factors of PPB and DICER1 familial syndrome. We reviewed the clinicopathologic findings of PPB and the status of DICER1 hotspot mutation and patients' clinical course.
METHODS
We retrospectively reviewed all patients with histologically confirmed PPB at Asan Medical Center between 2000 and 2017. Ten cases were identified in the database, and their clinicopathologic parameters were evaluated. PPB was classified into the following 3 pathologic subtypes: type I (purely cystic), type II (mixed cystic and solid), and type III (entirely solid). The status of DICER1 mutation in 2 hotspot regions of the RNase IIIb domain was evaluated by Sanger sequencing.
RESULTS
The most frequent PPB type was II (6 cases), followed by I and III (2 cases each). The age at diagnosis ranged from 16 months to 15 years. All patients underwent surgery, and all patients received adjuvant or neoadjuvant chemotherapy. Four of 7 patients had missense mutations in the RNase IIIb hotspot; the base and predicted corresponding amino acid changes were c.5113 G>A (p.E1705K), c.5407 G>A (p.E1803K), c.5425 G>A (p.G1809R), and c.5428 G>T (p.D1810Y). There was no particular association between the presence of the hotspot mutation and histologic type. Nine patients survived with no evidence of disease for a median interval of 93 (range, 13-199) months. Only 1 patient diagnosed with type III PPB at the age of 18 years had recurrence after 20.8 months and eventually died 66 months after the initial diagnosis.
CONCLUSIONS
Late detection of solid PPB is associated with poor prognosis. Considering the rarity of PPB disease and the importance of DICER1 hotspot mutation in pathogenesis, DICER1 hotspot mutation testing and identification in the early cystic stage can improve patient outcomes.
Topics: Adolescent; Child; Child, Preschool; DEAD-box RNA Helicases; Female; Germ-Line Mutation; Humans; Infant; Lung Neoplasms; Male; Pulmonary Blastoma; Retrospective Studies; Ribonuclease III
PubMed: 33567437
DOI: 10.1159/000512957 -
Genetics in Medicine : Official Journal... Feb 2017Germ-line mutations in DICER1 increase the risk of various tumors, including pleuropulmonary blastoma. Macrocephaly and symmetric overgrowth have been reported in some,...
PURPOSE
Germ-line mutations in DICER1 increase the risk of various tumors, including pleuropulmonary blastoma. Macrocephaly and symmetric overgrowth have been reported in some, but not all, patients with mosaic DICER1 RNase IIIb mutations. The prevalence of these features in individuals with constitutional germ-line DICER1 mutations is unknown.
METHODS
We analyzed prospectively collected auxology data from 67 DICER1 mutation carriers and 43 family controls. We assessed differences between groups using an exact test for proportions and generalized estimating equations for continuous dependent variables.
RESULTS
Twenty-eight DICER1 mutation carriers (42%) were macrocephalic, and none had an occipitofrontal circumference (OFC) below the third centile, which significantly differed from family controls, of whom five were macrocephalic (12%) and two had OFC below the third centile (5%) (P < 0.001). DICER1 mutation carriers were taller than familial controls after controlling for gender (P = 0.048), but similar proportions of both groups were above the 97th centile of population norms. Head circumference remained increased after adjusting for differences in height.
CONCLUSION
For the first time, we establish macrocephaly as a common finding in the DICER1 syndrome. Like some other tumor-predisposition disorders, macrocephaly may be a useful, albeit a subtle, clinical clue to the DICER1 syndrome diagnosis.Genet Med 19 2, 244-248.
Topics: Adolescent; Adult; Aged; Body Height; Child; Child, Preschool; DEAD-box RNA Helicases; Female; Germ-Line Mutation; Heterozygote; Humans; Infant; Male; Megalencephaly; Middle Aged; Neoplasms; Pulmonary Blastoma; Ribonuclease III
PubMed: 27441995
DOI: 10.1038/gim.2016.83 -
International Journal of Clinical and... 2015In infants, pleuropulmonary blastoma is a rare but aggressive tumor. The typical histopathological presentation includes the aggregation of malignant primitive small...
In infants, pleuropulmonary blastoma is a rare but aggressive tumor. The typical histopathological presentation includes the aggregation of malignant primitive small cells, usually observed in sheets. So as to provide proper and timely treatment, the differential diagnosis includes pulmonary blastoma, sarcomatoid mesothelioma, fetal rhabdomyoma, synovial sarcoma, and primitive neuroectodermal tumor. Herein, we will present one male pediatric patient with pleuropulmonary blastoma. The patient was a 4-month-old male infant, who had a prolonged cough and dyspnea for 4 months that was complicated by cyanosis for 3 days. A physical examination revealed a solid mass in the right lung that was sized 9.0 × 6.0 × 4.0 cm and had a grayish-white cross section. The boundary between the mass and lung tissue was clear; the mass already occupied a great portion of the lung. A microscopic examination suggested that the tumor was composed of round or orbicular-ovate primitive fetal cells. The cells were medium sized, having little cytoplasm, but had a clearly visualized nucleolus and active karyokinesis. The tumor mass was biphasic, namely, fasciculated sarcoma (composed of spindle-shaped cells and short spindle-shaped cells) and malignant fibrous histiocytoma containing well-differentiated cartilage islands or cartilaginous nodes. Immunohistochemistry was performed for further detection: vimentin (+), S-100 protein (+), CK (AE1/AE3), EMA and TTF-1 in residual epithelial components (+), NSE (focal +), SMA (mesenchymal cells, focal +), CD99 (weak +), Bcl-2 (weak +), desmin (-), myoglobin (-), calretinin (-), calponin (-), FLI (-), MyoD-1 (-), and CD34 (-). Pleuropulmonary blastoma is extremely rare but highly aggressive neoplasm in children. Its typical histopathological presentation is the aggregation of primitive malignant small cells. Combining imaging and histopathological examinations and clinical data should help in determining the diagnosis of pleural pulmonary blastoma.
Topics: Biomarkers, Tumor; Humans; Infant; Lung; Lung Neoplasms; Male; Pulmonary Blastoma
PubMed: 26722577
DOI: No ID Found -
Indian Journal of Thoracic and... Oct 2019Pleuropulmonary blastoma (PPB) is a rare, malignant tumor of the lung and is the most common primary pulmonary malignancy in children. Here, we report a case of a boy...
Pleuropulmonary blastoma (PPB) is a rare, malignant tumor of the lung and is the most common primary pulmonary malignancy in children. Here, we report a case of a boy who was diagnosed with type I regressed PPB after being mislabeled with congenital pulmonary malformation. A 10-year-old boy presented to our hospital with a history of worsening dyspnea. Since birth, his clinical status and radiographic images were concerning for congenital lobar emphysema that was managed conservatively. A chest computed tomography (CT) scan confirmed the persistence of a large cystic lesion and a diagnostic and therapeutic cystectomy was performed. Microscopic examination confirmed the presence of PPB type Ir. Patient was managed surgically alone with no added chemotherapy, as there was no overall survival benefit. PPB Ir has an overall favorable clinical outcome. Limited follow-up data are available due to the rarity of the lesion and the overlap with other congenital cystic lung malformations.
PubMed: 33061055
DOI: 10.1007/s12055-019-00814-1 -
Missouri Medicine 2019Pleuropulmonary blastoma (PPB), the most common primary malignant neoplasm of the lung in childhood, occurs in the same early age group (0-6 years) as the other more...
Pleuropulmonary blastoma (PPB), the most common primary malignant neoplasm of the lung in childhood, occurs in the same early age group (0-6 years) as the other more common solid tumors such as neuroblastoma and Wilms tumor. The tumor begins as a cystic lung lesion with the potential over a period of 3-5 years to progress to a high grade multipatterned primitive sarcoma in the absence of a malignant epithelial component. Several years after its initial description as a unique clinicopathologic entity, this and other tumors appeared to have a familial predilection which was later confirmed with the discovery of a heterozygous germline mutation in DICER1 whose protein is a member of ribonuclease III family of enzymes. It is estimated that 75%-80% of children with a PPB have the germline mutation. The other notable finding from our studies is the identification of a family of extrapulmonary neoplasms, including cystic nephroma and Sertoli-Leydig cell tumor of the ovary as two examples, also with DICER1 mutations.
Topics: Child; Child, Preschool; DEAD-box RNA Helicases; Female; Germ-Line Mutation; Humans; Infant; Infant, Newborn; Lung Neoplasms; Male; Pulmonary Blastoma; Ribonuclease III
PubMed: 31527943
DOI: No ID Found -
Radiology Case Reports Sep 2021Pleuropulmonary blastoma (PPB) is a rare but aggressive pediatric tumor originates from either lung or pleura. It was recently linked to the DICER I mutation as a part...
Pleuropulmonary blastoma (PPB) is a rare but aggressive pediatric tumor originates from either lung or pleura. It was recently linked to the DICER I mutation as a part of predisposition syndrome for different type of tumor. It is characterized histologically by a primitive, variably mixed blastomatous and sarcomatous tissue. PPB is classified into four subtypes: cystic (type I and type Ir); cystic and solid (type II); solid (type III). PPB has no characteristic imaging findings. Integrated imaging can help to make a differential diagnosis and to recognize the subtypes in order to set up therapy. An early recognition and differentiation from congenital airway malformations and other benign cysts are very important. The treatment consists in a multimodal therapy including surgery and chemoterapy. We report a case of 3 years old female admitted at our hospital with fever, non productive cough and dyspnea, who was diagnosed with type II PPB.
PubMed: 34345335
DOI: 10.1016/j.radcr.2021.06.022 -
Orphanet Journal of Rare Diseases Sep 2013Type I pleuropulmonary blastoma (PPB) and congenital cystic adenomatoid malformation of the lung (CCAM) are cystic lung diseases of childhood. Their clinical and...
BACKGROUND
Type I pleuropulmonary blastoma (PPB) and congenital cystic adenomatoid malformation of the lung (CCAM) are cystic lung diseases of childhood. Their clinical and radiological presentations are often similar, and pathologic discrimination remains difficult in many cases. As a consequence, type I PPB and CCAM are frequently confused, leading to delayed adequate management for type I PPB. Recent studies have suggested a role for fibroblast growth factor (FGF) 10 signal pathway in CCAM pathogenesis. The objective of our study was to determine whether FGF10 signaling differs between CCAM and type I PPB.
METHODS
Immunohistochemical studies were performed for expression of FGF10, its receptor FGFR2b, and its inhibitor sonic hedgehog (SHH) in focal type I PPB (n=6), CCAM type I (n=7), CCAM type II (n=7), and control lungs (n=5).
RESULTS
FGF10, FGFR2b, and SHH expressions differed markedly between type I PPB and both types of CCAM. Type I and type II CCAM cystic walls expressed FGF10, FGFR2b, and SHH, whereas staining was absent or poor in type I PBB cystic walls. Expression of FGF10, FGFR2b, and SHH did not differ between CCAM cystic walls and control airway walls.
CONCLUSIONS
These findings show that immunohistochemistry with FGF10, FGFR2b, or SHH could be useful in differentiating CCAM from type I PPB, when a child presents with a focal cystic lung lesion. The absence of strong expression of FGF10, FGFR2b, and/or SHH makes the diagnosis of CCAM very doubtful.
Topics: Cystic Adenomatoid Malformation of Lung, Congenital; Female; Fibroblast Growth Factor 10; Hedgehog Proteins; Humans; Immunohistochemistry; Infant; Infant, Newborn; Male; Pulmonary Blastoma; Receptor, Fibroblast Growth Factor, Type 2
PubMed: 24004862
DOI: 10.1186/1750-1172-8-130 -
Turk Patoloji Dergisi 2015Pleuropulmonary blastoma is rare embryonal tumor of infancy and early childhood and it often arises from lung and more rarely from the parietal pleura. We present this...
Pleuropulmonary blastoma is rare embryonal tumor of infancy and early childhood and it often arises from lung and more rarely from the parietal pleura. We present this entity which has no systematic data associated with its incidence in order to discuss clinical, histopathological, immunohistochemical features and the differential diagnosis. A three-year-old boy presented with fever showed signs of upper respiratory tract infection. Radiological examination revealed a solid mass filling the right hemithorax. The patient underwent core needle biopsy, wedge biopsy and lobectomy. Biopsy and surgical material were examined histopathologically. The tumor was composed of predominantly solid areas consisting blastemal cells with spindle, polygonal and round nuclei in the myxoid stroma. Immunohistochemical staining of the tumor cells were positive with vimentin and desmin. MIB-1 labeling index was above 90%. Histological diagnosis was pleuropulmonary blastoma type 3. The surgically sampled adjacent diafragma was also infiltrated with the tumor. The patient was treated with chemotherapy and showed no signs of recurrence in the follow-up of 9 months. Pleuropulmonary blastoma is a very rare childhood cancer that needs to be kept in mind in the pathological differential diagnosis of thoracic tumors in the children.
Topics: Biomarkers, Tumor; Biopsy, Needle; Chemotherapy, Adjuvant; Child, Preschool; Diagnosis, Differential; Humans; Immunohistochemistry; Magnetic Resonance Imaging; Male; Pneumonectomy; Predictive Value of Tests; Pulmonary Blastoma; Time Factors; Treatment Outcome
PubMed: 25560611
DOI: No ID Found