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Children (Basel, Switzerland) Apr 2024Pleuropulmonary blastoma (PPB) is a rare childhood tumor originating from the lung or pleura, typically treated with surgery, chemotherapy (CTx), and/or radiation...
Pleuropulmonary blastoma (PPB) is a rare childhood tumor originating from the lung or pleura, typically treated with surgery, chemotherapy (CTx), and/or radiation therapy (RTx). This study aimed to assess patient and tumor features, treatment methods, and survival rates in PPB. We retrospectively analyzed PPB patients under 18 from 2004 to 2019, using the National Cancer Database (NCDB). We assessed 5-year overall survival (OS) rates based on disease presentation and treatment regimens, using Kaplan-Meier curves and Cox proportional regression. Among 144 cases identified, 45.9% were female, with a median age of 2 years (interquartile range 1-3). In all, 62.5% of tumors originated from the lung, and 10.4% from the pleura. Moreover, 6.9% were bilateral, and the median tumor size was 8.9 cm, with 4.2% presenting with metastases. The 5-year OS rate was 79.6%, with no significant change over time (2004-2009, 77.6%; 2010-2014, 90.8%; 2015-2019, OS 75.3%; = 0.08). In all, 5.6% received CTx alone, 31.3% surgery alone, 45.8% surgery/CTx, and 17.4% surgery/CTx/RTx. The OS rates were comparable between the surgery/CTx/RTx (80.0%) and surgery/CTx (76.5%) groups (adjusted Hazard Ratio, 1.72; 95% CI, 0.57-5.19; = 0.34). Therefore, due to the unchanged survival rates over time, further prospective multicenter studies are needed to determine the optimal multimodal treatment regimens for this rare pediatric tumor.
PubMed: 38671641
DOI: 10.3390/children11040424 -
Turk Gogus Kalp Damar Cerrahisi Dergisi Jan 2024Pulmonary tumors in childhood are rare, but the majority are malignant. The histopathologic spectrum is quite diverse, including inflammatory myofibroblastic tumor,... (Review)
Review
Pulmonary tumors in childhood are rare, but the majority are malignant. The histopathologic spectrum is quite diverse, including inflammatory myofibroblastic tumor, hamartoma, primary pulmonary paraganglioma, carcinoid tumor, mucoepidermoid carcinoma, pleuropulmonary blastoma, adenocarcinoma, squamous cell carcinoma, and sarcomas. Nonspecific clinical and radiological findings result in late and incorrect diagnoses. Although surgical resection is the initial and proper treatment method, additional adjuvant therapy is dependent on both tumor stage and histopathologic type.
PubMed: 38584790
DOI: 10.5606/tgkdc.dergisi.2024.25863 -
Gynecologic Oncology Reports Apr 2024Sertoli-Leydig cell tumors (SLCT) are a rare form of sex cord stromal tumors. germline mutations have been identified in a portion of these cases. We report a...
Sertoli-Leydig cell tumors (SLCT) are a rare form of sex cord stromal tumors. germline mutations have been identified in a portion of these cases. We report a 15-year-old individual who presented to a well-child visit with secondary amenorrhea and subjective observations of a deepening voice and broadening shoulders. Elevations were noted in serum testosterone, inhibin B, androstenedione, and DHEA. Pelvic ultrasound and magnetic resonance imaging (MRI) revealed a left ovarian complex lesion measuring 5.8 x 5.5 x 4.6 cm. A laparoscopic unilateral salpingo-oophorectomy was performed with negative pelvic washings and a diagnosis of stage 1A, poorly differentiated/grade 3 SLCT of the ovary. Somatic and germline testing both demonstrated pathologic variations. Adjuvant chemotherapy with cisplatin/etoposide/ifosfamide (PEI) was completed under the care of pediatric oncology, and this patient is now undergoing surveillance with no signs of recurrence. Syndrome is associated with multiple tumors, including SLCT, pleuropulmonary blastoma (PPB), cystic sarcomas, and Wilms tumor among others. Patients with SLCT found to have a mutation should undergo genetic testing and cancer screening, which may help to identify neoplasms associated with the mutation at an early stage. This case will serve as a useful addition to the literature and review suggested pre-operative, operative, and surveillance guidelines.
PubMed: 38571566
DOI: 10.1016/j.gore.2024.101353 -
Thorax Jun 2024Pleuropulmonary blastoma (PPB), the hallmark tumour associated with -related tumour predisposition, is characterised by an age-related progression from a cystic lesion...
Prevalence of lung cysts in adolescents and adults with a germline pathogenic/likely pathogenic variant: a report from the National Institutes of Health and International Pleuropulmonary Blastoma/ Registry.
BACKGROUND
Pleuropulmonary blastoma (PPB), the hallmark tumour associated with -related tumour predisposition, is characterised by an age-related progression from a cystic lesion (type I) to a high-grade sarcoma with mixed cystic and solid features (type II) or purely solid lesion (type III). Not all cystic PPBs progress; type Ir (regressed), hypothesised to represent regressed or non-progressed type I PPB, is an air-filled, cystic lesion lacking a primitive sarcomatous component. This study aims to evaluate the prevalence of non-progressed lung cysts detected by CT scan in adolescents and adults with germline pathogenic/likely pathogenic (P/LP) variants.
METHODS
Individuals were enrolled in the National Cancer Institute Natural History of Syndrome study, the International PPB/ Registry and/or the International Ovarian and Testicular Stromal Tumor Registry. Individuals with a germline P/LP variant with first chest CT at 12 years of age or older were selected for this analysis.
RESULTS
In the combined databases, 110 individuals with a germline P/LP variant who underwent first chest CT at or after the age of 12 were identified. Cystic lung lesions were identified in 38% (42/110) with a total of 72 cystic lesions detected. No demographic differences were noted between those with lung cysts and those without lung cysts. Five cysts were resected with four centrally reviewed as type Ir PPB.
CONCLUSION
Lung cysts are common in adolescents and adults with germline variation. Further study is needed to understand the mechanism of non-progression or regression of lung cysts in childhood to guide judicious intervention.
Topics: Adolescent; Adult; Child; Female; Humans; Male; Middle Aged; Young Adult; Cysts; DEAD-box RNA Helicases; Germ-Line Mutation; Lung Diseases; Lung Neoplasms; Prevalence; Pulmonary Blastoma; Registries; Ribonuclease III; Tomography, X-Ray Computed; United States; Aged
PubMed: 38508719
DOI: 10.1136/thorax-2023-221024 -
Andes Pediatrica : Revista Chilena de... Dec 2023Pleuropulmonary blastoma (PPB) is the most common pediatric malignant primary lung tumor. It's associated with the DICER1 gene pathogenic germline variants. Antenatal...
UNLABELLED
Pleuropulmonary blastoma (PPB) is the most common pediatric malignant primary lung tumor. It's associated with the DICER1 gene pathogenic germline variants. Antenatal presentation is infrequent and poses a challenge in the differential diagnosis of congenital pulmonary airway malformation (CPAM).
OBJECTIVE
to report a case of unusual presentation of PPB associated with DICER1 syndrome and to describe the difficulty in differentiating it from CPAM.
CLINICAL CASE
Male patient with prenatal diagnosis of hypervascular left lung lesion, with mediastinal shift and progressive growth, initially interpreted as CPAM. He was born at 38 weeks, requiring transitory treatment with positive pressure due to ventilatory impairment. A CT scan with contrast showed a large multilocular cystic mass containing air causing mass effect, requiring open left upper lobectomy. Histology results were compatible with type I PPB, with negative margins, and positive genetic study for DICER1 syndrome. Seven weeks post-resection, an aerial image was detected in the upper left side of the chest, with progressive growth, requiring a new tumor resection and upper segmentectomy, with biopsy corresponding to recurrence of type I PPB with negative margins. He received adjuvant treatment with chemotherapy, with follow-up for 2 years, remaining asymptomatic, without recurrence, and with negative screening for other neoplasms associated with DICER1 syndrome. Among the family history, the mother had papillary thyroid cancer and tested positive for the mutation.
CONCLUSION
PPB is a rare cancer, difficult to distinguish from CPAM, especially in its antenatal presentation. Nowing its association with DICER1 syndrome and performing a genetic study are key to the early detection of BPP and the search for other tumors associated with the syndrome.
Topics: Female; Humans; Male; Pregnancy; DEAD-box RNA Helicases; Diagnosis, Differential; Lung; Lung Neoplasms; Pulmonary Blastoma; Ribonuclease III; Infant, Newborn
PubMed: 38329309
DOI: 10.32641/andespediatr.v94i6.4663 -
Cancers Jan 2024Mutations in , a gene involved in RNA interference, have been associated with a wide range of multi-organ neoplastic and non-neoplastic conditions. Historically known... (Review)
Review
Mutations in , a gene involved in RNA interference, have been associated with a wide range of multi-organ neoplastic and non-neoplastic conditions. Historically known for its association with pleuropulmonary blastoma, DICER1 syndrome has received more attention due to the association with newly discovered diseases and tumors. Recent studies evaluating mutations and DICER1-driven thyroid disease in both pediatric and adult thyroid nodules revealed thyroid disease as the most common manifestation of mutations. This study undertakes a comprehensive investigation into mutations, focusing on their role in thyroid diseases. Specific attention was given to thyroid follicular nodular disease and differentiated thyroid carcinomas in infancy as highly indicative of germline mutation or DICER1 syndrome. Additionally, poorly differentiated thyroid carcinoma and thyroblastoma were identified as potential indicators of somatic mutations. Recognizing these manifestations should prompt clinicians to expedite genetic evaluation for this neoplastic syndrome and classify these patients as high risk for additional multi-organ malignancies. This study comprehensively synthesizes the current knowledge surrounding this genetically associated entity, providing intricate details on histologic findings to facilitate its diagnosis.
PubMed: 38254836
DOI: 10.3390/cancers16020347 -
A rare case of type III pleuropulmonary blastoma infiltrating the left heart in an 11-year-old girl.International Journal of Surgery Case... Feb 2024Pleuropulmonary blastoma (PPB) is a rare primary malignant tumor in the chest that mainly occurs in children <6 years of age. Vascular extensions are even rarer,...
INTRODUCTION AND IMPORTANCE
Pleuropulmonary blastoma (PPB) is a rare primary malignant tumor in the chest that mainly occurs in children <6 years of age. Vascular extensions are even rarer, approximately 3 % of types II and III PPB, and have fatal complications. The patients of reported cases who had tumor extension to the heart are younger than three years old, whereas in this case, we reported an 11-year-old girl who was of school age. This case report aims to describe a rare case of a type III Pleuropulmonary Blastoma infiltrating the left heart of a school-age girl.
CASE PRESENTATION
An 11-year-old girl presented at an emergency department with two months of progressive dyspnea with malnutrition. A fused mass was found in LA on an echocardiogram along with moderate MR, severe MS, and mild pericardial effusion. CT scan showed a massive pleural effusion with a solid mass in the left lung obstructing the left bronchial tree, accompanied by the expansion of the tumor mass into the left pulmonary vein and LA.
CLINICAL DISCUSSION
Total removal of the tumor was performed, aided by cardiopulmonary bypass. Type III PPB was confirmed histopathologically.
CONCLUSION
PPB is a rare, aggressive tumor that has three types. Various manifestations can occur in line with the presence of metastases. The treatment consists of aggressive surgery and chemotherapy. Because of its poor prognosis, prompt recognition of the involvement of the cardiac chamber and great vessels in type III PPB should be considered before surgery.
PubMed: 38232413
DOI: 10.1016/j.ijscr.2024.109237