A Case of Biphasic Pulmonary Blastoma (High-grade Adenocarcinoma of Fetal Lung Type with a Sarcomatous Component).

Abstract Background: This study was designed to investigate the clinicopathologic features of pulmonary blastomatoid carcinosarcoma and explore the genomic profiles of epithelial and mesenchymal components in this tumor. Methods: Three cases of pulmonary blastomatoid carcinosarcoma were enrolled in this study. Clinic-pathologic information and prognostic data were retrospectively reviewed. Diagnostic immunohistochemistry was performed. The epithelial and mesenchymal components were microdissected to investigate the genomic profiles by performing capture-based targeted next generation sequencing. Results: The epithelial component in patient one was consistent of low-grade and high-grade fetal lung adenocarcinoma and displayed aberrant nuclear expression of β-catenin and missense mutation of CTNNB1 in its low-grade epithelial. The epithelial component in another two patients were consistent of high-grade fetal lung adenocarcinoma/enteric adenocarcinoma and harbored no mutation of CTNNB1. The mesenchymal components in all three tumors were primitive round/spindle cells in morphology without definite differentiation and showed cytoplasmic dot positive of β-catenin and no corresponding mutation. Within a tumor, both components exhibited relatively comparable molecular profile. In patient one, 4 mutations: RB1, FAT3, PTCH1 and LRP1B were shared by both epithelial and mesenchymal components. Epithelial had additional mutations in BCOR, CTNNB1, CTCF, FAT1 and DICER1. In patient two, 12 mutations were shared. The epithelial had BRCA2 mutations and the mesenchymal had mutations in CREBBP, ALK, DNMT3A, ASXL2, MYCN andRICTOR. Patient three had 6 shared mutations. The epithelial had an additional mutation in KAT6A and the mesenchymal had an additional mutation in APC. Collectively, we observed heterogeneity between epithelial and mesenchymal components of the same tumor. Conclusions: Parallel detection of genetic abnormalities in epithelial and mesenchymal components of blastomatoid carcinosarcoma could provide evidence for tumor differentiation, molecular targeting and further distinguish them from conventional pulmonary blastoma and carcinosarcoma.

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A case of pulmonary blastoma lacking sarcomatous features (pulmonary endodermal tumor resembling fetal lung)

Haigan ◽

10.2482/haigan.25.555 ◽

1985 ◽

Vol 25 (4) ◽

pp. 555-558 ◽

Cited By ~ 3

Author(s):

Akio Mitsuoka ◽

Hiromi Wada ◽

Motohiko Ito

Keyword(s):

Fetal Lung ◽

Pulmonary Blastoma

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Pulmonary Blastoma: An Immunohistochemical Analysis with Comparison with Fetal Lung in Its Pseudoglandular Stage

American Journal of Clinical Pathology ◽

10.1093/ajcp/93.2.167 ◽

1990 ◽

Vol 93 (2) ◽

pp. 167-175 ◽

Cited By ~ 59

Author(s):

Samuel A. Yousem ◽

Mark R. Wick ◽

Parmjeet Randhawa ◽

J. Carlos Manivel

Keyword(s):

Immunohistochemical Analysis ◽

Fetal Lung ◽

Pulmonary Blastoma ◽

Pseudoglandular Stage

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A Case of Biphasic Pulmonary Blastoma Treated with Carboplatin and Paclitaxel plus Bevacizumab

Case Reports in Oncological Medicine ◽

10.1155/2015/842621 ◽

2015 ◽

Vol 2015 ◽

pp. 1-4

Author(s):

Shinya Sakata ◽

Sho Saeki ◽

Sayuri Hirooka ◽

Susumu Hirosako ◽

Hidenori Ichiyasu ◽

...

Keyword(s):

Surgical Resection ◽

Standard Treatment ◽

Lung Tumor ◽

Early Stage ◽

Fetal Lung ◽

Metastatic Tumor ◽

Pulmonary Blastoma

Background. Pulmonary blastoma is a rare lung tumor similar to fetal lung tissues. Surgical resection at early stage is more curative than other treatments, but there is no standard treatment in unresectable cases. We show a case treated with carboplatin and paclitaxel plus bevacizumab.Case. A 68-year-old man received surgical resection and was diagnosed with biphasic pulmonary blastoma (pT3N0M0 stage IIB). Metastasis to the spleen was detected six weeks after the surgery. Carboplatin, paclitaxel, and bevacizumab were administered and showed an effect on the metastasis. Four courses of the chemotherapy were completed, but a metastasis was found and the metastatic tumor in the spleen was enlarged. After that, chemotherapy was not effective afterward and he died of the progression of biphasic pulmonary blastoma on the 292nd day of illness.Conclusion. In this case, chemotherapy with carboplatin and paclitaxel plus bevacizumab was temporarily efficacious for biphasic pulmonary blastoma.

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Pulmonary Blastoma: A Rare Primary Lung Malignancy

Case Reports in Medicine ◽

10.1155/2012/471613 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4 ◽

Cited By ~ 7

Author(s):

Mahmoud S. Alahwal ◽

Iqbal H. Maniyar ◽

Faiza Saleem ◽

Mariam Alshiekh

Keyword(s):

Objective Response ◽

Fetal Lung ◽

Surgical Excision ◽

Disease Recurrence ◽

Pulmonary Blastoma ◽

Complete Surgical Excision ◽

Lung Malignancy ◽

Platinum Based Chemotherapy ◽

Rare Malignancy ◽

Wall Mass

Pulmonary blastoma, a rare primary lung malignancy, is considered to be distinct from other lung tumors based on pathological features, clinical course, and prognosis. More than one hundred cases have been reported in literature highlighting an interesting fact about their distinctive biologic manner from histopathological features. Classic pulmonary blastoma is composed of a mixture of immature epithelial and mesenchymal tissue resembling fetal lung tissue. Surgery is the mainstay of treatment. The prognosis of this rare malignancy is poor and the overall 5-year survival is around 15%. Our patient presented with respiratory symptoms and was found to have right-sided chest wall mass. The patient underwent complete surgical excision followed by 6 cycles of platinum-based chemotherapy. The patient showed good subjective and objective response with no evidence of disease recurrence. We report this rare malignancy with a review of literature, and the potential to use adjuvant chemotherapy in the management of this condition.

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Review of Potential Significance of Mutations of ADAMTS20, NF1 and PKHD1 Detected Using Next Generation Sequencing (NGS) in Dermal Fibrosarcoma Arising in Dermatofibrosarcoma Protuberans

Folia Medica ◽

10.3897/folmed.62.e48003 ◽

2020 ◽

Vol 62 (1) ◽

pp. 17-22

Author(s):

Artur Kowalik ◽

Andrzej Wincewicz ◽

Sebastian Zięba ◽

Janusz Kopczynski ◽

Mariusz Koda ◽

...

Keyword(s):

Tumor Development ◽

Dermatofibrosarcoma Protuberans ◽

Low Grade ◽

High Grade ◽

Sarcomatous Component ◽

Allelic Frequencies ◽

High Grade Sarcoma ◽

Poorly Differentiated ◽

Next Generation Sequencing Ngs ◽

Generation Sequencing

We examined a status of fibrosarcoma arising in dermatofibrosarcoma protuberans of 64-year-old male patient. A dermal, solid, grayish-yellow, desmin-negative trichrome-bluish tumor measured 1.5 cm in diameter pT1a (edition 8 pTNM). It was composed of spindle cells. It was consistent with dermatofibrosarcoma protuberans (ICD-O3: 8832/3) in areas of low mitotic activity, low atypia and sustained CD34 positivity. CD34-negative texture with high mitotic index and atypia was consistent with the high grade sarcoma apparently of fibrous origin, given category of poorly differentiated fibrosarcoma. The high grade component was graded (G3) and scored according to French Federation of Cancer Centers Sarcoma Group (FNCLCC): total score of 6 points: tumor differentiation: 3 points + Mitotic count: 3 points (up to 26 mitoses/ 10HPF in high-grade fields), + no necrosis: 0 points. In low grade sarcomatous component ADAMTS20 (NM_025003: c.1661C>T, p.P554L) NF1 (NM_001042492: c. 2173G>T, p.E725X) and PKHD1 (NM_138694: c. 11074C>T, p.R3692X) were revealed with following allelic frequencies: 25%, 27% and 17%. In high grade component allelic frequencies of the same mentioned mutations were 30%, 30% and 14% respectively. In the light of our findings, none of detected mutations can be regarded as a mutation that would definitely induce phenotype of high malignancy, because ADAMTS20, NF1 and PKHD1 mutations were detected both in high grade sarcoma and in low grade areas of dermatofibrosarcoma protuberans. It also points that these mutations appeared on early stages of tumor development.

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Clinicopathologic features and genomic analysis of pulmonary blastomatoid carcinosarcoma

10.21203/rs.2.18869/v2 ◽

2020 ◽

Author(s):

Jikai Zhao ◽

Chan Xiang ◽

Ruiying Zhao ◽

Ping Guo ◽

Jingjing Zheng ◽

...

Keyword(s):

Epithelial Cells ◽

Lung Adenocarcinoma ◽

Genomic Analysis ◽

Fetal Lung ◽

Molecular Profile ◽

Low Grade ◽

High Grade ◽

Clinicopathologic Features ◽

Epithelial Component ◽

Additional Mutation

Abstract Background:This study was designed to investigate the clinicopathologic features of pulmonary blastomatoid carcinosarcoma and explore the genomic profiles of epithelial and mesenchymal components in this tumor. Methods: Three cases of pulmonary blastomatoid carcinosarcoma were enrolled in this study. Clinicopathologic informationand prognostic data were retrospectively reviewed. Diagnostic immunohistochemistry was performed. The epithelial and mesenchymal components were microdissected to investigate the genomic profiles by performing capture-based targeted next generation sequencing. Results:The epithelial components in patient one consisted of low-grade and high-grade fetal lung adenocarcinoma. Low-grade epithelial cells showed nuclear expression of β-catenin and missense mutation of CTNNB1. The epithelial components in another two patients consisted of high-grade fetal lung adenocarcinoma/enteric adenocarcinoma. The epithelial cells showed membrane staining of β-cateninand harbored no mutation of CTNNB1. The mesenchymal components in all three tumors were composed of primitive round/spindle cells without definite differentiation and showed cytoplasmic dot positive of β-catenin and no corresponding mutation. Within a tumor, both components exhibited relatively comparable molecular profile. In patient one, 4 mutations: RB1, FAT3, PTCH1and LRP1Bwere shared by both epithelial and mesenchymal components. Epithelial component had additional mutations in BCOR, CTNNB1, CTCF, FAT1and DICER1. In patient two, 12 mutations were shared. The epithelial component had BRCA2mutation and the mesenchymal had mutations in CREBBP, ALK, DNMT3A, ASXL2, MYCN andRICTOR. Patient three had 6 shared mutations. The epithelial component had an additional mutation in KAT6Aand the mesenchymal had an additional mutation in APC. Collectively, we observed heterogeneity between epithelial and mesenchymal components of the same tumor. Conclusions:Blastomatoid carcinosarcoma showed characteristic morphology and immunophenotype.Parallel detection of genetic abnormalities in epithelial and mesenchymal components could provide further evidence for tumor differentiation, molecular targeting and differential diagnosis.

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Endobronchial pulmonary blastoma – an unusual presentation of a rare lung malignancy and review of literature

Monaldi Archives for Chest Disease ◽

10.4081/monaldi.2020.1462 ◽

2020 ◽

Vol 90 (3) ◽

Author(s):

Benhur Joel Shadrach ◽

Deepak Vedant ◽

Vikarn Vishwajeet ◽

Priyank Jain ◽

Naveen Dutt ◽

...

Keyword(s):

Fetal Lung ◽

Surgical Excision ◽

Pleuropulmonary Blastoma ◽

Pulmonary Blastoma ◽

Review Of Literature ◽

Male Predominance ◽

Lung Malignancy ◽

Well Differentiated ◽

Multimodality Approach

Biphasic pulmonary blastoma (BPB) is an extremely rare highly aggressive malignant tumor that arises from fetal lung tissue and has the classical biphasic histology of epithelial and mesenchymal components. It is usually seen in adults with a slight male predominance and smokers. Previously grouped along with well-differentiated fetal adenocarcinoma (WDFA), and pleuropulmonary blastoma (PPB), now it is considered a separate variant and grouped under sarcomatoid neoplasms. Symptoms include chest pain, cough, hemoptysis and it is asymptomatic in at least one-third of the cases. A biopsy is essential for diagnosis and surgical excision is the treatment of choice. Prognosis is poor with 5-year survival less than 20% and recurrence occurring within 12 months of surgery. An aggressive multimodality approach is required for its management and active follow up surveillance is needed to look for recurrence.

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