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1.
Pan Afr Med J ; 43: 8, 2022.
Artigo em Francês | MEDLINE | ID: mdl-36284883

RESUMO

Pleuropulmonary blastoma is a rare intrathoracic tumor in children. It is associated with poor prognosis and diagnosis is based on histological examination. We conducted a didactic study involving a 3-year-old child with severe acute respiratory distress associated with hemothorax; radiological and thoracoscopic examination suggested malignant pleuropulmonary process. Anatomopathological examination with radio-clinical comparison allowed for the diagnosis of solid-cystic pleuropulmonary blastoma type II. Unfortunately, given the severity of the clinical features, the child died within a few weeks due to multiple organ failure. Pathologist experience is very important to recognize the disease and to start adequate treatment as soon as possible. This allows for a tumor regression rate up to 90% after neoadjuvant treatment and a 5-year survival rate of at least 53% for aggressive forms: solid and solido-cystic tumors.


Assuntos
Neoplasias Pulmonares , Blastoma Pulmonar , Humanos , Pré-Escolar , Neoplasias Pulmonares/patologia , Blastoma Pulmonar/diagnóstico , Blastoma Pulmonar/patologia , Terapia Neoadjuvante , Radiografia
4.
Asian Cardiovasc Thorac Ann ; 30(8): 939-942, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35898165

RESUMO

Pleuropulmonary blastoma is a rare pediatric primary lung tumor. We report a case of a child with Down syndrome and a large ventricular septal defect presenting with pleuropulmonary blastoma initially misdiagnosed as spontaneous pneumothorax. Following tube thoracostomy drainage of the pneumothorax, the child underwent surgical closure of the ventricular septal defect. However, the postoperative period was complicated by recurrent left pleural collection requiring prolonged intercostal tube drainage and two thoracotomies to evacuate the necrotic pleural material. The biopsy of the necrotic material was suggestive of type III pleuropulmonary blastoma. In view of the high propensity of metastasis associated with this variant of a tumor, the patient was started on chemotherapy. This case report highlights the possibility of pleuropulmonary blastoma presenting as pneumothorax and emphasizes the need to consider the etiology, before intervening in a child presenting with spontaneous pneumothorax.


Assuntos
Comunicação Interventricular , Neoplasias Pulmonares , Pneumotórax , Blastoma Pulmonar , Criança , Comunicação Interventricular/complicações , Comunicação Interventricular/diagnóstico por imagem , Comunicação Interventricular/cirurgia , Humanos , Neoplasias Pulmonares/patologia , Pneumotórax/diagnóstico por imagem , Pneumotórax/etiologia , Blastoma Pulmonar/complicações , Blastoma Pulmonar/diagnóstico , Blastoma Pulmonar/patologia , Resultado do Tratamento
5.
Ann Diagn Pathol ; 60: 152002, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35779311

RESUMO

DICER1-related tumors occur hereditary or sporadically, with high-grade malignancies sharing clinicopathological and (epi)genetic features. We compared 4 pleuropulmonary blastomas (PPBs) and 6 sarcomas by mutation analysis, whole transcriptome sequencing and methylation profiling. 9/10 patients were female. PPB patients were 0-4 years. 3/4 were alive; 2 without disease. One patient died of metastatic disease (median follow-up, 16 months). Sarcoma patients were 16-56 years. Locations included: uterine cervix/corpus (3/1), soft tissue back/shoulder (1) and paravertebral (1). 5/6 patients were alive; 2 developed metastases: intracranial (1) and lung and kidney (1) (median follow-up, 17 months). The deceased patient previously had a PPB and a Sertoli-Leydig cell tumor. Histologically, tumors showed atypical primitive-looking cells with incomplete rhabdomyoblastic differentiation and cartilage (n = 5). Immunohistochemistry demonstrated desmin- (n = 9/10), myogenin- (n = 6/10) and keratin positivity (n = 1/1). Eight cases harbored biallelic DICER1 mutations with confirmed germline mutations in 4 cases. Two cases showed a monoallelic mutation. By RNA expression- and methylation profiling, distinct clustering of our cases was seen demonstrating a close relationship on (epi)genetic level and similarities to embryonal rhabdomyosarcoma. In conclusion, this study shows overlapping morphological, immunohistochemical and (epi)genetic features of PPBs and DICER1-associated high-grade sarcomas, arguing that these neoplasms form a spectrum with a broad clinicopathological range.


Assuntos
Blastoma Pulmonar , Rabdomiossarcoma Embrionário , Neoplasias de Tecidos Moles , Feminino , Humanos , Masculino , RNA Helicases DEAD-box/genética , Desmina , Queratinas , Mutação , Miogenina , Blastoma Pulmonar/genética , Blastoma Pulmonar/patologia , Rabdomiossarcoma Embrionário/genética , Ribonuclease III/genética , RNA
7.
JAMA Netw Open ; 5(6): e2219814, 2022 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-35771571

RESUMO

Importance: The ability of computed tomography (CT) to distinguish between benign congenital lung malformations and malignant cystic pleuropulmonary blastomas (PPBs) is unclear. Objective: To assess whether chest CT can detect malignant tumors among postnatally detected lung lesions in children. Design, Setting, and Participants: This retrospective multicenter case-control study used a consortium database of 521 pathologically confirmed primary lung lesions from January 1, 2009, through December 31, 2015, to assess diagnostic accuracy. Preoperative CT scans of children with cystic PPB (cases) were selected and age-matched with CT scans from patients with postnatally detected congenital lung malformations (controls). Statistical analysis was performed from January 18 to September 6, 2020. Preoperative CT scans were interpreted independently by 9 experienced pediatric radiologists in a blinded fashion and analyzed from January 24, 2019, to September 6, 2020. Main Outcomes and Measures: Accuracy, sensitivity, and specificity of CT in correctly identifying children with malignant tumors. Results: Among 477 CT scans identified (282 boys [59%]; median age at CT, 3.6 months [IQR, 1.2-7.2 months]; median age at resection, 6.9 months [IQR, 4.2-12.8 months]), 40 cases were extensively reviewed; 9 cases (23%) had pathologically confirmed cystic PPB. The median age at CT was 7.3 months (IQR, 2.9-22.4 months), and median age at resection was 8.7 months (IQR, 5.0-24.4 months). The sensitivity of CT for detecting PPB was 58%, and the specificity was 83%. High suspicion for malignancy correlated with PPB pathology (odds ratio, 13.5; 95% CI, 2.7-67.3; P = .002). There was poor interrater reliability (κ = 0.36 [range, 0.06-0.64]; P < .001) and no significant difference in specific imaging characteristics between PPB and benign cystic lesions. The overall accuracy rate for distinguishing benign vs malignant lesions was 81%. Conclusions and Relevance: This study suggests that chest CT, the current criterion standard imaging modality to assess the lung parenchyma, may not accurately and reliably distinguish PPB from benign congenital lung malformations in children. In any cystic lung lesion without a prenatal diagnosis, operative management to confirm pathologic diagnosis is warranted.


Assuntos
Pneumopatias , Neoplasias Pulmonares , Estudos de Casos e Controles , Criança , Feminino , Humanos , Pulmão/diagnóstico por imagem , Pulmão/patologia , Neoplasias Pulmonares/diagnóstico por imagem , Masculino , Gravidez , Blastoma Pulmonar , Reprodutibilidade dos Testes , Tomografia Computadorizada por Raios X
8.
Pediatr Pulmonol ; 57(9): 2237-2243, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35510654

RESUMO

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.


Assuntos
Blastoma Pulmonar , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Pré-Escolar , Intervalo Livre de Doença , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico , Blastoma Pulmonar/cirurgia , Estudos Retrospectivos
9.
Kyobu Geka ; 75(1): 72-75, 2022 Jan.
Artigo em Japonês | MEDLINE | ID: mdl-35249079

RESUMO

A 62-year-old man was referred to our hospital for a lung tumor. Computed tomography (CT) of the chest showed a 62×55×68 mm well-circumscribed tumor in the upper lobe of the right lung. A transbronchial lung biopsy was performed, but a diagnosis was not achieved. Positron emission tomography-CT demonstrated intense F-fluorodeoxyglucose uptake in the mediastinal side of the tumor. Surgery was performed under the suspicion of primary lung cancer. The intraoperative pathological examination indicated a non-small-cell carcinoma. Thus, right upper lobectomy and wedge resection of the right lower lobe were performed. Microscopically, the tumor was composed of epithelial components, mimicking fetal lung tissue and embryogenic stroma. Therefore, the tumor was diagnosed as a biphasic pulmonary blastoma (p-StageⅡA). After the post-operative adjuvant chemotherapy, he has remained healthy without recurrence six years after the surgery.


Assuntos
Neoplasias Pulmonares , Blastoma Pulmonar , Fluordesoxiglucose F18 , Humanos , Pulmão/patologia , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/cirurgia , Masculino , Pessoa de Meia-Idade , Blastoma Pulmonar/diagnóstico por imagem , Blastoma Pulmonar/cirurgia , Tomografia Computadorizada por Raios X
10.
J Pathol Clin Res ; 8(3): 294-304, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35297207

RESUMO

DICER1 syndrome is an autosomal dominant tumour predisposition syndrome usually affecting persons under 30 years of age. Many of the associated benign and malignant lesions occur almost exclusively in DICER1 syndrome. One such tumour, pituitary blastoma (pitB), overexpresses PRAME 500x above control levels. PRAME (PReferentially expressed Antigen in MElanoma) is expressed in malignancies that are not DICER1-related (e.g. melanoma). To address whether PRAME expression is part of the DICER1 phenotype, or simply a feature of pitB, a series of 75 DICER1-mutated specimens and 33 non-mutated specimens was surveyed using immunohistochemistry for PRAME, together with EZH2, which complexes with PRAME. In DICER1-mutated specimens, positive staining for PRAME was only seen in malignant tumours; 7 of 11 histological types and 34/62 individual tumours were positive, while non-tumourous lesions were always negative. Pleuropulmonary blastoma (PPB) showed a continuum in staining, with type I lesions being PRAME negative (n = 7) but all type II and type III lesions PRAME positive (n = 7). Similarly, cystic nephroma (CN) was negative (n = 8), with anaplastic sarcoma of the kidney being positive (n = 2). However, one atypical CN with mesenchymal cell proliferation was PRAME-positive. Embryonal rhabdomyosarcoma (RMS) with DICER1 pathogenic variants (PVs) was positive for PRAME (5/6), but the same tumour type without DICER1 PVs was also positive (9/15). Staining for EZH2 corresponded to that seen with PRAME, validating the latter. This study leads us to conclude that (1) PRAME expression occurs in two-thirds of DICER1-related malignancies; (2) PRAME may be a marker for the progression that certain DICER1-related lesions are thought to undergo, such as PPB and CN; and (3) PRAME expression in some tumours, such as RMS, appears to be an intrinsic feature of the tumour, rather than specifically related to DICER1 PVs. Therapy directed against PRAME may offer novel treatment options in patients with the DICER1 syndrome.


Assuntos
Neoplasias Renais , Síndromes Neoplásicas Hereditárias , Blastoma Pulmonar , Sarcoma , Antígenos de Neoplasias , RNA Helicases DEAD-box/genética , Humanos , Síndromes Neoplásicas Hereditárias/genética , Fenótipo , Blastoma Pulmonar/genética , Blastoma Pulmonar/metabolismo , Ribonuclease III/genética
11.
Zhonghua Zhong Liu Za Zhi ; 44(2): 197-200, 2022 Feb 23.
Artigo em Chinês | MEDLINE | ID: mdl-35184466

RESUMO

Objective: To investigate the clinical manifestation, pathological type, treatment and prognosis of primary lung tumors in children. Methods: We collected and retrospectively analyzed the clinical manifestation, pathological type, therapeutic method and prognosis of 56 primary lung tumors patients who diagnosed from 2009 to 2019 in Guangzhou Women and Children Medical Center. Results: There were 56 patients identified as the primary lung tumors, including pleuropulmonary blastoma (PPB, n=28), pulmonary inflammatory myofibroblastic tumor(IMT, n=20), mucoepidermoid carcinoma(n=6), infantile hemangioma (n=1), pulmonary sclerosing hermangioma(n=1). Respiratory symptoms were the most manifestation at the time of diagnosis including 26 patients with cough, 3 with hemoptysis, and 17 with dyspnea. Others included 15 with fever, 3 with chest pain, and 2 with epigastiric pain. The primary tumor of 18 cases were located in the lower lobe of left lung, 11 cases in the lower lobe of right lung, 10 cases in the upper lobe of left lung, 7 cases in the upper lobe of right lung, 6 cases in the middle lobe of right lung, and 4 cases in pulmonary hilum. Among the 56 patients, 41 patients underwent thoracotomy, 13 thoracoscopy, and 2 fiberoptic bronchoscopy. Five patients with type Ⅰ PPB were still alive at the end of follow-up without chemotherapy. Among 5 patients with type Ⅱ PPB, 2 patients without chemotherapy died after recurrence, 3 patients suffered postoperative chemotherapy were still alive at the end of follow-up. All of the 18 patients with type Ⅲ PPB underwent postoperative chemotherapy with IVADo regimen. Recurrence occurred in 6 cases, distant metastasis occurred in 3 cases, and cancer-related deaths occurred in 8 cases. For 20 patients with IMT, recurrence occurred in 5 of 13 patients experienced wedge resection, 1 of 6 patients experienced lobectomy and 1 of 6 underwent fiberoptic bronchoscopy, respectively. For 6 mucoepidermoid carcinoma patients, lobectomy was carried on 5 patients, wedge resection on 1 patient, all of them were still alive at the end of follow-up. One hermangioma patient underwent fiberoptic bronchoscopy and other 1 sclerosing hermangioma patient underwent wedge resection, both of them were still alive at the end of follow-up. Conclusions: The clinical manifestations of the primary lung tumors in children are nonspecific. Complete resection and achieving negative marginattribute to the excellent outcome. Adjunctive treatment such as chemotherapy is necessary for patients with type Ⅱ and type Ⅲ PPB.


Assuntos
Neoplasias Pulmonares , Blastoma Pulmonar , Broncoscopia , Criança , Feminino , Humanos , Pulmão/patologia , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/cirurgia , Blastoma Pulmonar/cirurgia , Estudos Retrospectivos
12.
Semin Ultrasound CT MR ; 43(1): 61-72, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35164911

RESUMO

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.


Assuntos
Malformação Adenomatoide Cística Congênita do Pulmão , Neoplasias Pulmonares , Blastoma Pulmonar , Criança , Pré-Escolar , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico , RNA Helicases DEAD-box , Diagnóstico Diferencial , Humanos , Lactente , Recém-Nascido , Neoplasias Pulmonares/diagnóstico por imagem , Imagem Multimodal , Blastoma Pulmonar/diagnóstico por imagem , Ribonuclease III/genética
13.
Klin Padiatr ; 234(5): 311-313, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35114704

RESUMO

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 DICER1 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 DICER1 variant.


Assuntos
Cistos , Pneumopatias , Neoplasias Pulmonares , Blastoma Pulmonar , Criança , Pré-Escolar , RNA Helicases DEAD-box/genética , Humanos , Pneumopatias/complicações , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , Blastoma Pulmonar/complicações , Blastoma Pulmonar/diagnóstico , Blastoma Pulmonar/genética , Ribonuclease III/genética
14.
BMC Pulm Med ; 22(1): 8, 2022 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-34983474

RESUMO

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.


Assuntos
Neoplasias Pulmonares/diagnóstico , Blastoma Pulmonar/diagnóstico , Cesárea , Quimioterapia Adjuvante/métodos , Feminino , Humanos , Recém-Nascido , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/cirurgia , Masculino , Gravidez , Blastoma Pulmonar/tratamento farmacológico , Blastoma Pulmonar/patologia , Blastoma Pulmonar/cirurgia , Resultado do Tratamento , Adulto Jovem
15.
Paediatr Anaesth ; 32(2): 126-137, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34797930

RESUMO

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.


Assuntos
Pneumopatias , Blastoma Pulmonar , Brônquios/anormalidades , Humanos , Pulmão/diagnóstico por imagem , Blastoma Pulmonar/patologia , Traqueia/anormalidades
16.
Head Neck Pathol ; 16(2): 573-580, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34282560

RESUMO

DICER1, a member of the ribonuclease III family, is involved in the biogenesis of microRNAs and, hence, it influences gene expression regulation. DICER1 germline (associated with the inherited DICER1 syndrome) or somatic mutations have been linked to tumorigenesis in histogenetically diverse benign and malignant neoplasms in different organs including pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, nasal chondromesenchymal hamartoma, poorly differentiated thyroid carcinoma, thyroblastoma, intracranial sarcoma and gonadal Sertoli-Leydig cell tumors in addition to others. Moreover, rare botryoid (giant) fibroepithelial polyps may harbor this mutation. Herein, we describe the first reported case of a DICER1-mutated botryoid fibroepithelial polyp occurring within the parotid duct of a 65-year-old female who has no other features or family history of the DICER1 syndrome. Based on its distinctive morphology, we tested this lesion specifically for DICER1 mutations and confirmed the presence of a pathogenic DICER1 variant with a low allele frequency, consistent with a somatic mutation.


Assuntos
Síndromes Neoplásicas Hereditárias , Pólipos , Blastoma Pulmonar , Rabdomiossarcoma Embrionário , Neoplasias Cutâneas , Idoso , RNA Helicases DEAD-box/genética , Feminino , Mutação em Linhagem Germinativa , Humanos , Mutação , Síndromes Neoplásicas Hereditárias/genética , Blastoma Pulmonar/genética , Blastoma Pulmonar/patologia , Doenças Raras , Ribonuclease III/genética , Ribonuclease III/metabolismo
17.
Mod Pathol ; 35(1): 4-22, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34599283

RESUMO

DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition disorder with a heterozygous DICER1 germline mutation. The most common tumor seen clinically is the pleuropulmonary blastoma (PPB), a lung neoplasm of early childhood which is classified on its morphologic features into four types (IR, I, II and III) with tumor progression over time within the first 4-5 years of life from the prognostically favorable cystic type I to the unfavorable solid type III. Following the initial report of PPB, its association with other cystic neoplasms was demonstrated in family studies. The detection of the germline mutation in DICER1 provided the opportunity to identify and continue to recognize a number seemingly unrelated extrapulmonary neoplasms: Sertoli-Leydig cell tumor, gynandroblastoma, embryonal rhabdomyosarcomas of the cervix and other sites, multinodular goiter, differentiated and poorly differentiated thyroid carcinoma, cervical-thyroid teratoma, cystic nephroma-anaplastic sarcoma of kidney, nasal chondromesenchymal hamartoma, intestinal juvenile-like hamartomatous polyp, ciliary body medulloepithelioma, pituitary blastoma, pineoblastoma, primary central nervous system sarcoma, embryonal tumor with multilayered rosettes-like cerebellar tumor, PPB-like peritoneal sarcoma, DICER1-associated presacral malignant teratoid neoplasm and other non-neoplastic associations. Each of these neoplasms is characterized by a second somatic mutation in DICER1. In this review, we have summarized the salient clinicopathologic aspects of these tumors whose histopathologic features have several overlapping morphologic attributes particularly the primitive mesenchyme often with rhabdomyoblastic and chondroid differentiation and an uncommitted spindle cell pattern. Several of these tumors have an initial cystic stage from which there is progression to a high grade, complex patterned neoplasm. These pathologic findings in the appropriate clinical setting should serve to alert the pathologist to the possibility of a DICER1-associated neoplasm and initiate appropriate testing on the neoplasm and to alert the clinician about the concern for a DICER1 mutation.


Assuntos
Neoplasias Pulmonares/etiologia , Neoplasias Pleurais/etiologia , Blastoma Pulmonar/etiologia , Ribonuclease III/genética , Causalidade , Mutação em Linhagem Germinativa , Humanos , Neoplasias Pulmonares/complicações , Neoplasias Pleurais/complicações , Blastoma Pulmonar/complicações , Síndrome
18.
Mod Pathol ; 35(5): 676-679, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-34907324

RESUMO

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.


Assuntos
Hamartoma , Neoplasias Hepáticas , Neoplasias Pulmonares , Blastoma Pulmonar , Criança , RNA Helicases DEAD-box/genética , Humanos , Lactente , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/genética , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , Masculino , Blastoma Pulmonar/complicações , Blastoma Pulmonar/diagnóstico , Blastoma Pulmonar/genética , Ribonuclease III/genética
19.
Pediatr Blood Cancer ; 69(3): e29466, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34913555

RESUMO

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.


Assuntos
Blastoma Pulmonar , Sarcoma , Neoplasias de Tecidos Moles , Criança , RNA Helicases DEAD-box/genética , Países em Desenvolvimento , Mutação em Linhagem Germinativa , Humanos , Blastoma Pulmonar/diagnóstico , Blastoma Pulmonar/genética , Blastoma Pulmonar/patologia , Ribonuclease III/genética , Sarcoma/diagnóstico , Sarcoma/genética , Sarcoma/patologia
20.
Pediatr Blood Cancer ; 69(3): e29529, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34913589

RESUMO

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.


Assuntos
Neoplasias Pulmonares , Blastoma Pulmonar , Sistema Nervoso Central/patologia , Criança , RNA Helicases DEAD-box/genética , Mutação em Linhagem Germinativa , Humanos , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/genética , Blastoma Pulmonar/tratamento farmacológico , Blastoma Pulmonar/genética , Ribonuclease III/genética , Topotecan
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