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The Clinical Respiratory Journal Nov 2023Classic biphasic pulmonary blastoma (CBPB), a distinct type of lung cancer, is a dual-phasic tumor characterized by the co-existence of low-grade fetal adenocarcinoma... (Review)
Review
Classic biphasic pulmonary blastoma (CBPB), a distinct type of lung cancer, is a dual-phasic tumor characterized by the co-existence of low-grade fetal adenocarcinoma and primitive mesenchymal stroma. Accounting for less than 0.1% of surgically removed lung cancers, CBPB commonly presents in individuals during their fourth to fifth decades of life, with smoking as a significant risk factor. The optimal management strategy entails surgical resection, supplemented by chemotherapy to improve prognosis. The frontline chemotherapeutic agents typically include platinum agents and etoposide, with preoperative neoadjuvant chemotherapy potentially enabling operability for initially inoperable cases. In recent years, targeted therapies, such as antiangiogenic agents, have emerged as promising new treatment strategies for CBPB. For patients exhibiting brain metastases or deemed inoperable, radiation therapy proves to be a crucial therapeutic component. CBPB prognosis is adversely affected by factors such as early metastasis, tumor size exceeding 5 cm, and tumor recurrence. In this regard, serological markers have been identified as valuable prognostic indicators. To exemplify, we recount the case of a 44-year-old female patient with CBPB, wherein serum lactate dehydrogenase levels showed significant diagnostic value. This report further incorporates a comprehensive review of CBPB literature from the past 22 years.
Topics: Female; Humans; Adult; Pulmonary Blastoma; Neoplasm Recurrence, Local; Lung Neoplasms; Etoposide; Prognosis
PubMed: 37772674
DOI: 10.1111/crj.13701 -
Acta Cytologica 2023Pulmonary spindle cell and mesenchymal lesions are paradox for pathologists due to their rarity, overlapping morphology, and differentials ranging from benign to...
INTRODUCTION
Pulmonary spindle cell and mesenchymal lesions are paradox for pathologists due to their rarity, overlapping morphology, and differentials ranging from benign to malignant lesions, and correct diagnosis is essential due to major treatment implications. This study highlights the role of fine-needle aspiration cytology, clot core biopsy, and immunohistochemistry in diagnosis of spindle cell lesions in lung, thus playing a key role in patient management.
METHODS
It is a retrospective study of lung FNA with predominantly spindle and mesenchymal cells from 2015-2020 which were classified cytomorphologically into spindle, epithelioid, small round cell, and biphasic, and IHC panels are applied accordingly. FNA from mediastinum and chest wall was excluded.
RESULTS
60 cases of lung FNA with spindle and mesenchymal cells were identified and included 6 benign and 54 malignancies which included 24 primary pulmonary malignancies and 30 metastases. Most common primary malignancy was sarcomatoid carcinoma, and most common metastasis was malignant peripheral nerve sheath tumour. FNA was paucicellular in 7 cases and was reported as benign in 7 cases and malignant in 46 cases. There were two false-negative cases. One case of pulmonary blastoma was reported as inflammatory pseudotumour on cytology, and other case of chondrosarcoma was reported as chondroid tumour. Sensitivity and specificity of FNA in distinguishing benign lesions and malignancies were 93.8% and 100%, respectively.
CONCLUSION
FNA along with clot core biopsy/cell block and IHC plays a pivotal role in the subsequent pathway taken for diagnostic or therapeutic management of these patients without the need for second sampling or trucut biopsies in a low resource setting.
Topics: Humans; Biopsy, Fine-Needle; Retrospective Studies; Biopsy, Large-Core Needle; Carcinoma; Sensitivity and Specificity; Neoplasms, Connective and Soft Tissue; Lung
PubMed: 36580900
DOI: 10.1159/000528843 -
BMJ Case Reports Aug 2021Classic biphasic pulmonary blastoma (CBPB) is a very rare primary pulmonary malignancy with distinctive clinical and pathological features. Usually CBPB presents with...
Classic biphasic pulmonary blastoma (CBPB) is a very rare primary pulmonary malignancy with distinctive clinical and pathological features. Usually CBPB presents with either non specific symptoms or is diagnosed incidentally. Histologically CBPB is composed of a mixture of malignant epithelial and stromal cells resembling fetal lung tissue. Surgical resection is the mainstay of treatment with further chemotherapy or radiotherapy on a case-by-case basis. However, due to its rarity, no definite treatment guidelines are available. CBPB overall has a very poor prognosis with a 5-year survival rate of only 15%. Our patient presented with cough and haemoptysis. Her chest radiograph demonstrated a large right-sided lung mass. Further investigations included CT, CT-guided biopsy and PET CT which were discussed at multidisciplinary team meetings. The patient then underwent complete surgical excision. We report this rare malignancy with radiological and pathological features, comparing them with previously reported cases.
Topics: Female; Humans; Lung; Lung Neoplasms; Prognosis; Pulmonary Blastoma; Tomography, X-Ray Computed
PubMed: 34376421
DOI: 10.1136/bcr-2021-244151 -
Frontiers in Oncology 2023Pulmonary blastoma (PB) is a rare and invasive malignancy of the lungs with a poor prognosis. Although the mainstay treatment of PB is surgery, and radiotherapy and...
Pulmonary blastoma (PB) is a rare and invasive malignancy of the lungs with a poor prognosis. Although the mainstay treatment of PB is surgery, and radiotherapy and chemotherapy have been reported, no standard therapy exists for patients inoperable in advanced stages. Moreover, little is known about driver mutation status and immunotherapy efficacy. This paper presents a male patient diagnosed with classic biphasic PB using CT-guided lung biopsy pathology and immunohistochemistry. The patient's symptoms included cough, chest pain, shortness of breath, hemoptysis, and hypodynamia. The primary focus of this paper is to discuss the impact of anti-PD-1 immunotherapy on PB. The patient experienced progression-free survival (PFS) of over 27 months following sintilimab second-line anti-PD-1 therapy. The patient has currently survived for nearly 40 months with a satisfactory quality of life.
PubMed: 37124510
DOI: 10.3389/fonc.2023.1146204 -
Pediatric Pulmonology Sep 2022Pleuropulmonary blastoma (PPB) is a very rare and highly aggressive neoplasm occurring in children, mostly under 6 years of age. We assessed the clinical...
OBJECTIVES
Pleuropulmonary blastoma (PPB) is a very rare and highly aggressive neoplasm occurring in children, mostly under 6 years of age. We assessed the clinical characteristics, treatment modalities, treatment outcomes, and prognostic factors affecting survival in patients with PPB treated at our institution over a 10-year period to improve the prognosis.
METHODS
From November 2008 to November 2019, 31 children (21 boys and 10 girls) with a median age of 30 months (ranging, 22 days to 54 months) were treated at our institution. Here we describe the patient characteristics, treatment modalities, and treatment outcomes. The Kaplan-Meier method was used to estimate the progression-free survival (PFS) and overall survival (OS). Log-rank test was performed for comparison between groups.
RESULTS
Three children were lost to follow-up and two were dead due to postoperative complications. Of the 26 patients included in the follow-up, 16 PPB patients displayed tumor-free survival. The 5-year PFS and OS were 60.4% and 60.1% respectively. By stratified statistical analysis, the 5-year PFS and OS of type I PPB were 100%, while those of type III PPB were 43.7% and 43%, respectively. The 5-year PFS and OS of complete tumor resection were 76.5% and 75.6%, respectively, while those with tumor residue were 31.3%. The 5-year PFS and OS combined with chemotherapy were 62.2% and 61.6%, respectively, while those without chemotherapy were 0%.
CONCLUSIONS
PPB is an aggressive neoplasm. The main factors related to the prognosis of PPB are pathological type, tumor resection degree, and postoperative adjuvant therapy.
Topics: Antineoplastic Combined Chemotherapy Protocols; Child, Preschool; Disease-Free Survival; Female; Humans; Infant; Infant, Newborn; Male; Prognosis; Pulmonary Blastoma; Retrospective Studies
PubMed: 35510654
DOI: 10.1002/ppul.25930 -
Journal of Pediatric Hematology/oncology Jul 2017It has been reported that germline DICER1 mutations correlate with a distinctive human disease syndrome. Many published studies within this field have been conducted... (Meta-Analysis)
Meta-Analysis Review
It has been reported that germline DICER1 mutations correlate with a distinctive human disease syndrome. Many published studies within this field have been conducted based on rare cases. We systematically searched bibliographic databases, including PubMed, Embase, and COSMIC for articles which are related to diseases covered by DICER1 syndrome. The weighted summary of mutation frequencies among patients with pleuropulmonary blastoma (PPB), cystic nephroma (CN), and Sertoli-Leydig cell tumor (SLCT) were calculated. Forty-nine eligible articles were included. In total, 72 cases with multimorbidity of DICER1 syndrome were identified. More females (n=46, 64%) presented with multimorbidity than males (n=18, 25%) and the remaining 8 patients' sex were unknown. Nineteen of 72 patients with multimorbidity suffered from another disease that was not yet included in DICER1 syndrome, which would provide potential phenotypes of DICER1 syndrome. The germline DICER1 mutation frequencies in PPB, CN, and SLCT were 66.9%, 73.2%, and 57.1%, respectively. The somatic DICER1 mutation frequencies of PPB, CN, and SLCT were 92.4%, 87.9%, and 43.3%, respectively. Majority of patients with multimorbidity of DICER1 syndrome were mutation positive individuals so that multimorbidity may suggest the possible germline mutation of these patients and their relatives.
Topics: DEAD-box RNA Helicases; Female; Germ-Line Mutation; Humans; Male; Mutation Rate; Nephroma, Mesoblastic; Pulmonary Blastoma; Ribonuclease III; Sertoli-Leydig Cell Tumor
PubMed: 27906793
DOI: 10.1097/MPH.0000000000000715 -
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 -
Clinical Radiology Apr 2021Hereditary ovarian tumour syndromes are a diverse group of hereditary syndromes characterised by the development of specific histotypes of ovarian neoplasms. While BRCA... (Review)
Review
Hereditary ovarian tumour syndromes are a diverse group of hereditary syndromes characterised by the development of specific histotypes of ovarian neoplasms. While BRCA syndromes are exclusively associated with high-grade serous carcinomas, patients with Lynch syndrome show a preponderance of endometrioid subtype of ovarian and endometrial carcinomas. Distinct non-epithelial phenotypes, such as sex cord stromal tumours with annular tubules, Sertoli-Leydig cell tumours, and small cell carcinoma of the hypercalcaemic type occur in patients with Peutz-Jeghers, DICER1, and rhabdoid tumour predisposition syndromes, respectively. Gorlin-Goltz syndrome is characterised by the development of bilateral, multiple ovarian fibromas in 14-24% of patients. Ovarian steroid cell tumours and broad ligament papillary cystadenomas are characteristically found in women with von Hippel-Lindau syndrome. Recent studies have allowed the characterisation of tumour genetics and associated oncological pathways that contribute to tumourigenesis. Implications of the diagnosis of these syndromes on screening, management, and prognosis are discussed.
Topics: Basal Cell Nevus Syndrome; Brain Neoplasms; Carcinoma, Ovarian Epithelial; Colorectal Neoplasms, Hereditary Nonpolyposis; DEAD-box RNA Helicases; Female; Genes, BRCA1; Genes, BRCA2; Germ-Line Mutation; Humans; Kidney Neoplasms; Neoplastic Syndromes, Hereditary; Ovarian Neoplasms; Peutz-Jeghers Syndrome; Pulmonary Blastoma; Rhabdoid Tumor; Ribonuclease III; von Hippel-Lindau Disease
PubMed: 33353730
DOI: 10.1016/j.crad.2020.11.116 -
World Journal of Surgical Oncology Aug 2018Pleuroblastoma (PPB) is a rare pediatric tumor which, in 30% of cases, is associated with cystic nephroma. It has been recently linked to the DICER1 mutation as part of... (Review)
Review
BACKGROUND
Pleuroblastoma (PPB) is a rare pediatric tumor which, in 30% of cases, is associated with cystic nephroma. It has been recently linked to the DICER1 mutation as part of a predisposition syndrome for various tumors. However, if DICER 1 anomalies have been reported in patients with Wilms tumor (WT), to date, no cases of PPB, WT, and DICER1 mutations have been reported in the same patient.
CASE PRESENTATION
We report the case of a 3-year-old patient, initially managed for metastatic WT. During his clinical course, the diagnosis of a PPB was made after detecting the DICER1 mutation and subsequent management was therefore modified.
CONCLUSION
This case highlights that in case of simultaneous discovery of a renal tumor and a pulmonary lesion in a child, the DICER 1 mutations should be looked for as these could help adapt management and schedule the surgical procedures.
Topics: Child, Preschool; DEAD-box RNA Helicases; Female; Genetic Predisposition to Disease; Humans; Kidney Neoplasms; Lung Neoplasms; Prognosis; Pulmonary Blastoma; Ribonuclease III; Wilms Tumor
PubMed: 30097050
DOI: 10.1186/s12957-018-1469-4 -
Pediatric Blood & Cancer Dec 2021Children with progressive (PD) or relapsed disease (RD) of pleuropulmonary blastoma (PPB) type II/III are known to have a very poor outcome.
BACKGROUND
Children with progressive (PD) or relapsed disease (RD) of pleuropulmonary blastoma (PPB) type II/III are known to have a very poor outcome.
METHODS
A retrospective review of children registered in national and European databases and trials (2000-2018) with diagnosis of PPB type II/III and PD or RD was performed.
RESULTS
A total of 35 patients with PPB were analysed: patients with PD (n = 9) and RD (n = 26). Patients experienced PD at the median age of 3.9 years [range, 0.5-17.8] despite surgery, chemotherapy (CHT, n = 9) and radiotherapy (RT, n = 1) with a median time to progression of 0.58 years [range, 0.02-1.27] from diagnosis. All of them died. Patients suffered from RD at the median age of 4.3 years [1.7-15.1], median delay to relapse 1.03 years [range, 0.03-2.95]. RD occurred locally (n = 12), combined (n = 1) and in metastatic sites (n = 13): central nervous system (n = 11) and unspecified site (n = 2). Patients were treated with salvage CHT (n = 20), surgery (n = 10) ± RT (n = 10). After a median follow-up of 4.2 years [range, 2.1-14.6], a second complete remission (CR) was achieved in nine out of 26 patients. Patients were alive in the second CR (n = 6), in the third CR (n = 1), in partial remission (n = 2) and lost of follow-up (n = 1). Five-year event-free survival (EFS) and overall survival (OS) for patients with RD were both 37% (±19, CI 95%). Local therapy (surgery, RT) had a favourable impact on OS (p = 0.03 and 0.02, respectively).
CONCLUSIONS
Cure of patients with RD of PPB type II/III with multimodal treatment is possible but rare. Progressive PPB is fatal and patients need new treatment options.
Topics: Adolescent; Child; Child, Preschool; Combined Modality Therapy; Humans; Infant; Neoplasm Recurrence, Local; Pulmonary Blastoma; Retrospective Studies
PubMed: 34486213
DOI: 10.1002/pbc.29268