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Cureus Jan 2022Rhabdomyosarcoma (RMS) is a rare soft tissue tumor originating from skeletal muscle that is mostly reported in children. The most common sites of involvement are the...
Rhabdomyosarcoma (RMS) is a rare soft tissue tumor originating from skeletal muscle that is mostly reported in children. The most common sites of involvement are the head, neck, and extremities. The 2020 WHO classification divide RMS into four types: embryonal, alveolar, pleomorphic, and spindle cell/sclerosing. Reports of RMS with primary lung origin are rare. We present a case of RMS in a 16-month-old boy who presented with a lung mass and microscopic examination with fluorescence in situ hybridization confirmed the diagnosis of alveolar RMS. In conclusion, RMS should be considered in the differential diagnosis of any lung mass with small round blue cell morphology in the microscopic evaluation and should be distinguished from metastatic RMS of other sites, pleuropulmonary blastoma, lymphoma, neuroblastoma, primitive neuroectodermal tumor (PNET)/EWING, and malignant peripheral nerve sheet tumors (MPNST).
PubMed: 35178324
DOI: 10.7759/cureus.21270 -
Seminars in Ultrasound, CT, and MR Feb 2022Pleuropulmonary blastomas are rare, potentially aggressive embryonal cancers of the lung parenchyma and pleural surfaces that account for 0.25%-0.5% of primary pulmonary... (Review)
Review
Pleuropulmonary blastomas are rare, potentially aggressive embryonal cancers of the lung parenchyma and pleural surfaces that account for 0.25%-0.5% of primary pulmonary malignancies in children. Pleuropulmonary blastomas are classified as cystic (type I), mixed cystic and solid (type II), and solid (type III). Pleuropulmonary blastoma occurs in the same age group (0-6 years) as other more common solid tumors such as neuroblastoma and Wilms tumor. Differential diagnosis includes metastasis from Wilms tumor and macrocystic congenital pulmonary airway malformation (CPAM). A key pathologic and genetic discriminator is the DICER1 germline mutation found in patients with pleuropulmonary blastoma. Imaging, histopathologic, and clinical data are important to use in conjunction in order to determine the diagnosis and risk stratification of pleuropulmonary blastomas. Survival varies from poor to good, depending on type. However, the spectrum of pleuropulmonary blastoma is insufficiently understood due to the variable presentation of this rare disease. We present a current review of the literature regarding pleuropulmonary blastomas in this article.
Topics: Child; Child, Preschool; Cystic Adenomatoid Malformation of Lung, Congenital; DEAD-box RNA Helicases; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Lung Neoplasms; Multimodal Imaging; Pulmonary Blastoma; Ribonuclease III
PubMed: 35164911
DOI: 10.1053/j.sult.2021.05.007 -
Klinische Padiatrie Sep 2022Complete tracheal ring deformity (CTRD) is a rare abnormality of unknown etiology characterized by circumferentially continuous cartilaginous tracheal rings leading to...
Complete tracheal ring deformity (CTRD) is a rare abnormality of unknown etiology characterized by circumferentially continuous cartilaginous tracheal rings leading to variable degrees of tracheal stenosis with or without additional heart and lung malformations. Pleuropulmonary blastomas (PPB) are rare malignant mesenchymal tumors, which occur almost exclusively in young children. Pathogenic germline variants are associated with PPB but also with other tumors like rhabdomyosarcoma or syndromic diseases like GLOW (Global developmental delay, lung cysts, overgrowth and Wilms tumor) syndrome. Here, we report a case with CTRD and recurrent pneumothoraces who additionally developed PPB on the genetic background of a pathogenic variant.
Topics: Child; Child, Preschool; Cysts; DEAD-box RNA Helicases; Humans; Lung Diseases; Lung Neoplasms; Pulmonary Blastoma; Ribonuclease III
PubMed: 35114704
DOI: 10.1055/a-1699-2026 -
BMC Pulmonary Medicine Jan 2022Pulmonary blastoma (PB) comprises a rare heterogeneous group of lung tumours typically containing immature epithelial and mesenchymal structures that imitate the... (Review)
Review
BACKGROUND
Pulmonary blastoma (PB) comprises a rare heterogeneous group of lung tumours typically containing immature epithelial and mesenchymal structures that imitate the embryonic lung tissue and extremely rarely occurs during pregnancy. Although cough and haemoptysis are the most common PB symptoms, they usually indicate other serious pregnancy-related complications.
CASE PRESENTATION
The article presents the unusual case of a 22-year-old pregnant woman diagnosed with PB during pregnancy.
CONCLUSIONS
PB is characterized by poor prognosis and patients' outcome relies on a rapid diagnosis. Surgery remains the most common and effective treatment. Due to the extreme rarity, the literature contains only single mentions of PB in pregnancy, thus its impact on the course of pregnancy and the developing fetus remains unknown.
Topics: Cesarean Section; Chemotherapy, Adjuvant; Female; Humans; Infant, Newborn; Lung Neoplasms; Male; Pregnancy; Pulmonary Blastoma; Treatment Outcome; Young Adult
PubMed: 34983474
DOI: 10.1186/s12890-021-01804-z -
Pediatric Blood & Cancer Mar 2022Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the pleura and pulmonary mesenchyme, associated with pathogenic germline DICER1 mutations. Although the most...
Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the pleura and pulmonary mesenchyme, associated with pathogenic germline DICER1 mutations. Although the most common site of metastasis is the central nervous system (CNS), patients with CNS metastasis have dismal outcome. We report a case of a patient presenting with type II PPB and intracranial and bone metastases. We describe a multimodal therapy approach and highlight the use of intraventricular topotecan for isolated CNS recurrence. In addition, a new pathogenic germline mutation heterozygous for the c.1234delT of DICER1 was identified. Patient remains in remission 3 years after recurrence.
Topics: Central Nervous System; Child; DEAD-box RNA Helicases; Germ-Line Mutation; Humans; Lung Neoplasms; Pulmonary Blastoma; Ribonuclease III; Topotecan
PubMed: 34913589
DOI: 10.1002/pbc.29529 -
Pediatric Blood & Cancer Mar 2022Extrapulmonary DICER1-associated sarcomas (DS) can harbor morphological features overlapping with pleuropulmonary blastoma. We report three children with intracranial...
Phenotypic similarities within the morphologic spectrum of DICER1-associated sarcomas and pleuropulmonary blastoma: Histopathologic features guide diagnosis in the LMIC setting.
Extrapulmonary DICER1-associated sarcomas (DS) can harbor morphological features overlapping with pleuropulmonary blastoma. We report three children with intracranial and genital tract sarcomas, suspected to have DS based on a heterogeneous yet defining combination of spindle-cell sarcomatous and blastemal morphology, with rhabdomyomatous differentiation. Foci of immature cartilage at diagnosis (n = 2/3) and increased neuroepithelial differentiation at recurrence (n = 1) were noted. Morphological suspicion prompted somatic testing at reference centers, confirming likely biallelic, loss-of-function, and "hotspot" missense DICER1 variants in all three tumors. This can serve as a model for this diagnosis in resource-limited settings and has implications for germline testing, surveillance, and tumor management.
Topics: Child; DEAD-box RNA Helicases; Developing Countries; Germ-Line Mutation; Humans; Pulmonary Blastoma; Ribonuclease III; Sarcoma; Soft Tissue Neoplasms
PubMed: 34913555
DOI: 10.1002/pbc.29466 -
Modern Pathology : An Official Journal... May 2022This report documents a unique multicystic neoplasm of the liver in an 8-month-old boy with a heterozygous germline pathogenic DICER1 variant. This neoplasm, initially...
This report documents a unique multicystic neoplasm of the liver in an 8-month-old boy with a heterozygous germline pathogenic DICER1 variant. This neoplasm, initially considered most likely a mesenchymal hamartoma based on imaging, demonstrated the characteristic histologic pattern of embryonal rhabdomyosarcoma residing in the subepithelial or cambium layer-like zone of the epithelial-lined cysts. Thus, although the differential diagnosis includes mesenchymal hamartoma, a young child with a multicystic mass lesion in the liver, lung, or kidney should both raise the possibility of a germline pathogenic DICER1 variant and also not be mistaken for one of the other hepatic neoplasms of childhood.
Topics: Child; DEAD-box RNA Helicases; Hamartoma; Humans; Infant; Liver Neoplasms; Lung Neoplasms; Male; Pulmonary Blastoma; Ribonuclease III
PubMed: 34907324
DOI: 10.1038/s41379-021-00947-y -
International Journal of Clinical and... 2021Pleuro-pulmonary blastoma is a rare and aggressive intrathoracic mesenchymal tumor occurring in childhood. We report the exceptional case of a forty-five year-old woman,...
Pleuro-pulmonary blastoma is a rare and aggressive intrathoracic mesenchymal tumor occurring in childhood. We report the exceptional case of a forty-five year-old woman, presenting with respiratory distress. She had previously been treated with chemotherapy and radiotherapy for Hodgkin lymphoma. Chest X rays and computed tomography scan showed a left lung lower lobe mass and pleural effusion. Biopsy cores revealed a pleura-pulmonary blastoma tumor with mixed components. Neoadjuvant chemotherapy was decided in multidisciplinary round. Because of the rarity of these tumors, no consensus for the treatment exists.
PubMed: 34900079
DOI: No ID Found -
Respiratory Medicine Case Reports 2021Pulmonary blastoma is an aggressive lung cancer with incidence ranging from 0.25-0.5 of all the reported lung cancers. Although, pulmonary blastoma is seen commonly in...
Pulmonary blastoma is an aggressive lung cancer with incidence ranging from 0.25-0.5 of all the reported lung cancers. Although, pulmonary blastoma is seen commonly in childhood its very rare in adults. Surgical treatment is often the treatment of choice, but benefits of neoadjuvant chemotherapy are unclear. People with DICER1 syndrome commonly develop Pulmonary blastoma and do have concomitant or previous history of benign or malignant tumours in extra pulmonary site like kidney, thyroid, ovary cervix testicle and eye. As per our knowledge, this is the first case of adult pulmonary blastoma previously diagnosed with urothelial cancer and a strong familial predilection of malignancy, with negative genetic test for DICER1 mutations.
PubMed: 34820260
DOI: 10.1016/j.rmcr.2021.101556 -
Paediatric Anaesthesia Feb 2022Congenital lung lesions are numerous but rare in individual clinical practice. They do require close multidisciplinary collaboration between health care professionals.... (Review)
Review
Congenital lung lesions are numerous but rare in individual clinical practice. They do require close multidisciplinary collaboration between health care professionals. This educational review will focus on the pathophysiology, clinical manifestations, surgical approaches, and anesthetic management of congenital anomalies of the large intrathoracic airways: congenital tracheal stenosis, tracheal agenesis, tracheal diverticulum, bronchial anomalies (tracheal, esophageal, or bridging bronchus), congenital lung malformations, lung sequestrations and Scimitar syndrome, lobar emphysema, Williams-Campbell syndrome, and pleuropulmonary blastoma. In addition, this review will illustrate common pitfalls and challenges related to the anesthesia management with emphasis on ventilation and correct endotracheal tube positioning.
Topics: Bronchi; Humans; Lung; Lung Diseases; Pulmonary Blastoma; Trachea
PubMed: 34797930
DOI: 10.1111/pan.14339