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BACKGROUND: Dental technicians are at high risk of pneumoconiosis, usually driven by inhalation of mixed dusts, including metals. An etiological diagnosis is not easy to be performed, particularly in advanced stages. CASE PRESENTATION: We describe the case of an early pneumoconiosis occurring in a 47-year-old dental technician who developed respiratory symptoms shortly after beginning work. She described the work environment as dusty and lacking relevant primary prevention tools. A chest CT showed multiple peripheral pseudonodular lesions in both lower lobes; bronchoalveolar lavage and bronchial aspirate evidenced numerous macrophages with reflective metal bodies included into the cytoplasm, that at scanning electron microscopy coupled to Energy Dispersive X-Ray Analysis resulted Zirconium and Aluminum, whereas Tungsten (W) was localized outside cells. End of shift urinary concentrations of W were substantially raised as compared to pre-shift (1.1 vs. 0.2 µg/L). CONCLUSIONS: We concluded for diagnosis of early work-related pneumoconiosis due to abnormal occupational exposure to metals. The case demonstrates the need also for dental professionals to comply with industrial hygiene standards and to be monitored by occupational health physicians.
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Metales Pesados/efectos adversos , Exposición Profesional/efectos adversos , Neumoconiosis/etiología , Técnicos Dentales , Polvo , Humanos , Italia , Persona de Mediana Edad , Neumoconiosis/diagnóstico por imagen , Neumoconiosis/patologíaRESUMEN
We report a challenging autopsy case with an insidious clinical presentation with diffuse lepto- and pachymeningeal enhancement in a context of a complex clinical history. Clinical features, neuroradiological and anamnestic data were consistent with central nervous system (CNS) dissemination of a previously known lambda restricted multiple myeloma. Autoptic findings allowed to discard this hypothesis. Unexpectedly, CNS sampling revealed an atypical glial cell proliferation within the sacral meningeal layers. No primary intraparenchymal CNS glial lesion was found. Findings supported the final diagnosis of anaplastic astrocytoma IDH1-wild type of the medullary cone with diffuse leptomeningeal and cerebrospinal fluid (CSF) dissemination. This occurrence represents an extremely rare condition itself, further complicated by the clinical history of the patient that led to formulate the most probable diagnosis of localization of the primary known disease. This autopsy case underlines that patients previously diagnosed with a primary tumor are not only at risk of recurrences or progression of the original disease, but they must be always accurately checked for eventual onset of a second tumor, including rare conditions such as gliomatosis.
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Astrocitoma , Neoplasias Meníngeas , Mieloma Múltiple , Astrocitoma/diagnóstico por imagen , Autopsia , Humanos , Imagen por Resonancia Magnética , Neoplasias Meníngeas/diagnóstico por imagen , Mieloma Múltiple/diagnóstico por imagen , Recurrencia Local de NeoplasiaRESUMEN
BACKGROUND: Little information is available concerning prognostic factors for bronchopulmonary large cell neuroendocrine carcinomas (BP-LCNECs) and even less is known about combined LCNECs (Co-LCNECs). We investigated whether an integrated morphological, immunohistochemical, and molecular approach could be used for their prognostic evaluation. METHODS: Morphological (including combined features), proliferative (mitotic count/Ki-67 index), immunohistochemical (napsin A, p40, TTF-1, CD44, OTP, SSTR2A, SSTR5, mASH1, p53, RB1, and MDM2), and genomic (TP53, RB1, ATM, JAK2, KRAS, and STK11) findings were analyzed in BP-LCNECs from 5 Italian centers, and correlated with overall survival (OS). The Ki-67 index was expressed as the percentage of positive cells in hot spots as indicated in the WHO 2019 Digestive System Tumors and, for Co-LCNECs, the Ki-67 index was evaluated only in the LCNEC component. RESULTS: A total of 111 LCNECs were distinguished into 70 pure LCNECs, 35 Co-LCNECs (27 with adenocarcinoma [ADC] and 8 with squamous cell carcinoma [SqCC]), and 6 LCNECs with only napsin A immunoreactivity. The Ki-67 index cutoff at 55% evaluated in the neuroendocrine component was the most powerful predictor of OS (log-rank p = 0.0001) in all LCNECs; 34 cases had a Ki-67 index <55% (LCNEC-A) and 77 had a Ki-67 index ≥55% (LCNEC-B). Statistically significant differences in OS (log-rank p = 0.0001) were also observed between pure and Co-LCNECs. A significant difference in OS was found between pure LCNECs-A and Co-LCNECs-A (p < 0.05) but not between pure LCNECs-B and Co-LCNECs-B. Co-LCNEC-ADC and LCNEC napsin A+ cases had longer OS than pure LCNEC and Co-LCNEC-SqCC cases (log-rank p = 0.0001). On multivariable analysis, tumor location, pure versus combined features, and napsin A, but no single gene mutation, were significantly associated with OS after adjustment for Ki-67 index and study center (p < 0.05). CONCLUSIONS: The Ki-67 proliferation index and the morphological characterization of combined features in LCNECs seem to be important tools for predicting clinical outcome in BP-LCNECs.
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Carcinoma de Células Grandes/diagnóstico , Carcinoma Neuroendocrino/diagnóstico , Antígeno Ki-67/metabolismo , Neoplasias Pulmonares/diagnóstico , Carcinoma de Células Grandes/metabolismo , Carcinoma de Células Grandes/mortalidad , Carcinoma Neuroendocrino/metabolismo , Carcinoma Neuroendocrino/mortalidad , Humanos , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/mortalidad , Pronóstico , Análisis de SupervivenciaRESUMEN
Malignant melanoma is an aggressive cancer with a high metastatic potential. Among the multiple sites of metastatic disease, the lung is one of the most frequently involved sites. Typically, pulmonary metastases from malignant melanoma occur as solid nodules. Rarely, pulmonary involvement in metastatic melanoma occurs as subsolid nodules. The present article describes an unusual case of a patient with malignant melanoma that developed two synchronous pulmonary metastases with two different densities on CT images (one solid and the other subsolid) and different morphological patterns on histologic images. The radiologic-pathologic correlation of these two patterns of presentation was also reported.
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Pulmonary hamartoma (PH) is the most common benign tumor of the lung, typically presenting as a peripheral solitary nodule with round shape and smooth margins. The main computed tomography (CT) features that allow a confident diagnosis of PH are intranodular fat and popcorn-like calcifications. However, the presence of these features within PHs is variable. Thus, a reliable diagnosis of PH cannot be formulated in approximately 30% of cases. Furthermore, PHs may occasionally show atypical CT features. The present article reports the case of a centrally located PH with an extremely rare and previously unreported CT presentation consisting of fluid attenuation, rim enhancement and thick enhancing septa that mimicked a mediastinal cyst-like lesion.
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The latest (4th) edition of the World Health Organization (WHO) Classification of Head and Neck Tumours, published in January 2017, has reclassified keratocystic odontogenic tumour as odontogenic keratocyst. Therefore, odontogenic keratocysts (OKCs) are now considered benign cysts of odontogenic origin that account for about 10% of all odontogenic cysts. OKCs arise from the dental lamina and are characterised by a cystic space containing desquamated keratin with a uniform lining of parakeratinised squamous epithelium. The reported age distribution of OKCs is considerably wide, with a peak of incidence in the third decade of life and a slight male predominance. OKCs originate in tooth-bearing regions and the mandible is more often affected than the maxilla. In the mandible, the most common location is the posterior sextant, the angle or the ramus. Conversely, the anterior sextant and the third molar region are the most common sites of origin in the maxilla. OKCs are characterised by an aggressive behaviour with a relatively high recurrence rate, particularly when OKCs are associated with syndromes. Multiple OKCs are typically associated with the nevoid basal cell carcinoma syndrome (NBCCS), an autosomal dominant multisystemic disease. Radiological imaging, mainly computed tomography (CT) and, in selected cases, magnetic resonance imaging (MRI), plays an important role in the diagnosis and management of OKCs. Therefore, the main purpose of this pictorial review is to present the imaging appearance of OKCs underlining the specific findings of different imaging modalities and to provide key radiologic features helping the differential diagnoses from other cystic and neoplastic lesions of odontogenic origin. KEY POINTS: ⢠Panoramic radiography is helpful in the preliminary assessment of OKCs. ⢠CT is considered the tool of choice in the evaluation of OKCs. ⢠MRI with DWI or DKI can help differentiate OKCs from other odontogenic lesions. ⢠Ameloblastoma, dentigerous and radicular cysts should be considered in the differential diagnosis. ⢠The presence of multiple OKCs is one of the major criteria for the diagnosis of NBCCS.
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INTRODUCTION: Osteomas are slow-growing benign tumours composed of mature compact or cancellous bone and are seen in facial bones but uncommonly in the mandible; cases that arise in the notch region are rarely reported in the literature. PRESENTATION OF CASE: This article presents a 37-year-old woman with no preauricular swelling, no limitation of joint motion and pain only on the left side. DISCUSSION: The patient was evaluated based on preoperative clinical manifestations, orthopantomography and a computed tomography (CT) scan. The CT scan showed bone density irregularity between the coronoid process and the left mandibular condyle in the notch region arising both medially and laterally. Surgery was performed based on these images and the patient's indications and symptoms. CONCLUSION: Among the cases of osteoma in the literature, only six originated in the mandibular notch, but this is the only that was both medially and laterally located.
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Capnocytophaga canimorsus infection was recently recognized as a zoonosis. We report the first case of fulminant septic shock in Italy caused by this pathogen. The patient, with a history of splenectomy, died at the main hospital in Brescia with a presumptive diagnosis of sepsis. PCR and sequencing on post mortem samples confirmed C. canimorsus as a causative organism. Our purpose is to alert medical professionals to the virulence of C. canimorsus in asplenic and immunocompromised patients.
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Mordeduras y Picaduras/microbiología , Capnocytophaga/aislamiento & purificación , Exantema/microbiología , Infecciones por Bacterias Gramnegativas/microbiología , Sepsis/microbiología , Choque Séptico/microbiología , Esplenectomía/efectos adversos , Animales , Antibacterianos/administración & dosificación , Perros , Exantema/etiología , Resultado Fatal , Infecciones por Bacterias Gramnegativas/inmunología , Infecciones por Bacterias Gramnegativas/terapia , Humanos , Huésped Inmunocomprometido , Italia , Masculino , Púrpura/microbiología , Enfermedades Raras , Sepsis/inmunología , Sepsis/terapia , Choque Séptico/inmunología , Choque Séptico/terapia , Adulto Joven , ZoonosisRESUMEN
Pleural epithelioid hemangioendothelioma (EHE) is a rare malignancy of vascular-endothelial origin with non-specific symptoms and an unpredictable outcome. Diagnosis of this condition by imaging modalities is challenging, and no standard therapeutic approaches have been established in this regard. In this paper, we described the case of a patient with a low-grade fever, coughing and chest pain who underwent 18F-FDG PET/CT after a positive thorax CT showing multiple bilateral calcified pulmonary nodules and extensive right-sided pleural effusion. Moreover, PET/CT revealed increased tracer uptake on the nodular pleural thickening and one nodule in the upper lobe of the right lung. A diagnostic thoracentesis was performed to obtain the pleural fluid. However, cytology was not diagnostic, and the subsequent thoracotomy with pleural fluid drainage and pleural biopsy was positive for pleural EHE. The study showed also an abundant non-FDG-avid pleural effusion in the collapsed right lung. Despite chest tube insertion and partial drainage of the volume, patient's condition deteriorated, and patient passed away six months after the PET scan.
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Malignant pleural mesothelioma (MPM) is an aggressive human cancer and miRNAs can play a key role for this disease. In order to broaden the knowledge in this field, the miRNA expression was investigated in a large series of MPM to discover new pathways helpful in diagnosis, prognosis and therapy. We employed nanoString nCounter system for miRNA profiling on 105 MPM samples and 10 healthy pleura. The analysis was followed by the validation of the most significantly deregulated miRNAs by RT-qPCR in an independent sample set. We identified 63 miRNAs deregulated in a statistically significant way. MiR-185, miR-197, and miR-299 were confirmed differentially expressed, after validation study. In addition, the results of the microarray analysis corroborated previous findings concerning miR-15b-5p, miR-126-3p, and miR-145-5p. Kaplan-Meier curves were used to explore the association between miRNA expression and overall survival (OS) and identified a 2-miRNA prognostic signature (Let-7c-5p and miR-151a-5p) related to hypoxia and energy metabolism respectively. In silico analyses with DIANA-microT-CDS highlighted 5 putative targets in common between two miRNAs. With the present work we showed that the pattern of miRNAs expression is highly deregulated in MPM and that a 2-miRNA signature can be a new useful tool for prognosis in MPM.
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Perfilación de la Expresión Génica/métodos , Neoplasias Pulmonares/genética , Mesotelioma/genética , MicroARNs/genética , Análisis de Secuencia por Matrices de Oligonucleótidos/métodos , Adulto , Anciano , Anciano de 80 o más Años , Hipoxia de la Célula , Metabolismo Energético , Femenino , Regulación Neoplásica de la Expresión Génica , Humanos , Masculino , Mesotelioma Maligno , Persona de Mediana Edad , Pronóstico , Análisis de SupervivenciaRESUMEN
PURPOSE: We aimed to evaluate the growth pattern and doubling time (DT) of pulmonary adenocarcinomas exhibiting ground-glass opacities (GGOs) on multidetector computed tomography (CT). METHODS: The growth pattern and DT of 22 pulmonary adenocarcinomas exhibiting GGOs were retrospectively analyzed using three-dimensional semiautomatic software. Analysis of each lesion was based on calculations of volume and mass changes and their respective DTs throughout CT follow-up. Three-dimensional segmentation was performed by a single radiologist on each CT scan. The same observer and another radiologist independently repeated the segmentation at the baseline and the last CT scan to determine the variability of the measurements. The relationships among DTs, histopathology, and initial CT features of the lesions were also analyzed. RESULTS: Pulmonary adenocarcinomas presenting as GGOs exhibited different growth patterns: some lesions grew rapidly and some grew slowly, whereas others alternated between periods of growth, stability, or shrinkage. A significant increase in volume and mass that exceeded the coefficient of repeatability of interobserver variability was observed in 72.7% and 84.2% of GGOs, respectively. The volume-DTs and mass-DTs were heterogeneous throughout the follow-up CT scan (range, -4293 to 21928 and -3113 to 17020 days, respectively), and their intra- and interobserver variabilities were moderately high. The volume-DTs and mass-DTs were not correlated with the initial CT features of GGOs; however, they were significantly shorter in invasive adenocarcinomas (P = 0.002 and P = 0.001, respectively). CONCLUSION: Pulmonary adenocarcinomas exhibiting GGOs show heterogeneous growth patterns with a trend toward a progressive increase in size. DTs may be useful for predicting tumor aggressiveness.
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Adenocarcinoma/diagnóstico por imagen , Adenocarcinoma/patología , Imagenología Tridimensional/métodos , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/patología , Tomografía Computarizada Multidetector/métodos , Adenocarcinoma del Pulmón , Anciano , Anciano de 80 o más Años , Algoritmos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Variaciones Dependientes del Observador , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
PURPOSE: To describe the pattern of recurrence in resected pN1 non-small cell lung cancer (NSCLC) and to identify factors predicting an increased risk of locoregional recurrence (LR) or distant metastasis (DM) to define a selected population who may benefit from postoperative radiotherapy (PORT). METHODS: 285 patients with resected pN1 NSCLC were identified. Patients with positive surgical margins, undergoing neoadjuvant treatment or PORT, were excluded. LR was defined as first event of recurrence at the surgical bed, ipsilateral hilum or mediastinum, and other sites were considered as DM. Kaplan-Meier actuarial estimates of overall survival (OS), progression-free survival (PFS), freedom from LR (FFLR) and freedom from DM (FFDM) in different subgroups were compared with the log-rank test. Multivariate analysis was calculated. RESULTS: 202 patients met the inclusion criteria, 24 % received adjuvant chemotherapy. The median follow-up was 39 months. The total number of recurrences was 118 (64.4 %): 44 (24 %) and 74 (40.4 %) for LR and DM, respectively. Five-year OS and PFS rates were 39.2 and 33.3 %, respectively. Extra capsular extension (ECE) (RR 2.10, p = 0.01) and lymph nodal ratio (LNR) >0:15 (RR 1.68, p = 0.015) were associated with a worse PFS. ECE and LNR >0.15 were significantly related to a worst FFLR (RR 3.04 and 4.42, respectively), and adenocarcinoma to an unfavorable FFDM (RR 1.97, p = 0.013). CONCLUSIONS: Nodal factors as high LNR and ECE can predict an increased risk of worse FFLR and PFS. Prospective data on selected patients, treated with modern radiotherapy techniques, need to be collected to re-evaluate the role of radiotherapy.
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Carcinoma de Pulmón de Células no Pequeñas/radioterapia , Neoplasias Pulmonares/radioterapia , Recurrencia Local de Neoplasia/radioterapia , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma de Pulmón de Células no Pequeñas/patología , Carcinoma de Pulmón de Células no Pequeñas/cirugía , Quimioterapia Adyuvante , Terapia Combinada , Femenino , Humanos , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/cirugía , Metástasis Linfática , Masculino , Persona de Mediana Edad , Clasificación del Tumor , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/cirugía , Factores de Riesgo , Resultado del TratamientoRESUMEN
The distinction between malignant mesothelioma and reactive mesothelial proliferation can be challenging both on histology and cytology. Recently, variants of the BRCA1-associated protein 1 (BAP1) gene resulting in nuclear protein loss were reported in hereditary and sporadic mesothelioma. Using immunohistochemistry, we evaluated the utility of BAP1 expression in the differential diagnosis between mesothelioma and other mesothelial proliferations on a large series of biopsies that included 212 mesotheliomas, 12 benign mesothelial tumors, and 42 reactive mesothelial proliferations. BAP1 stain was also performed in 70 cytological samples (45 mesotheliomas and 25 reactive mesothelial proliferations). BAP1 was expressed in all benign mesothelial tumors, whereas 139/212 (66%) mesotheliomas were BAP1 negative, especially in epithelioid/biphasic compared with sarcomatoid/desmoplastic subtypes (69% vs 15%). BAP1 loss was homogeneous in neoplastic cells except for two epithelioid mesotheliomas showing tumor heterogeneity. By fluorescence in situ hybridization, BAP1 protein loss was paralleled by homozygous deletion of the BAP1 locus in the vast majority of BAP1-negative tumors (31/41, 76%), whereas 9/10 BAP1-positive mesotheliomas were normal. In biopsies interpreted as reactive mesothelial proliferation BAP1 loss was 100% predictive of malignancy, as all 6 cases subsequently developed BAP1-negative mesothelioma, whereas only 3/36 (8%) BAP1-positive cases progressed to mesothelioma. On cytology/cell blocks, benign mesothelial cells were invariably positive for BAP1, whereas 64% of mesotheliomas showed loss of protein; all 6 cases showing BAP1 negativity were associated with histological diagnosis of BAP1-negative mesothelioma. BAP1 stain also showed utility in the differential of mesothelioma from most common pleural and peritoneal mimickers, such as lung and ovary carcinomas, with specificity and sensitivity of 99/70% and 100/70%, respectively. Our results show that BAP1 protein is frequently lost in mesothelioma, especially of epithelioid/biphasic subtype and is commonly associated with homozygous BAP1 deletion. BAP1 immunostain represents an excellent biomarker with an unprecedented specificity (100%) in the distinction between benign and malignant mesothelial proliferations. Finding BAP1 loss in mesothelial cells should prompt to immediately reevaluate the patient; moreover, it might be useful in mapping tumor extent and planning surgical resection.
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Biomarcadores de Tumor/análisis , Diferenciación Celular , Proliferación Celular , Epitelio/enzimología , Mesotelioma/enzimología , Proteínas Supresoras de Tumor/análisis , Ubiquitina Tiolesterasa/análisis , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/genética , Diagnóstico Diferencial , Regulación hacia Abajo , Epitelio/patología , Femenino , Eliminación de Gen , Regulación Enzimológica de la Expresión Génica , Regulación Neoplásica de la Expresión Génica , Homocigoto , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Masculino , Mesotelioma/genética , Mesotelioma/patología , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Pronóstico , Proteínas Supresoras de Tumor/genética , Ubiquitina Tiolesterasa/genética , Adulto JovenRESUMEN
Crizotinib is an efficacious and well-tolerated drug in the management of ALK-positive lung cancer. Crizotinib treatment, however, is rarely complicated by the occurrence of acute interstitial lung disease (ILD) that is often fatal. There is no treatment for this serious adverse event. We report a female non-small cell lung cancer patient who developed ILD after a few days of crizotinib therapy. She showed a significant improvement after a high dose of pulse corticosteroid therapy, both radiologically and clinically. Unfortunately, the patient subsequently developed an aspergillosis superinfection leading to death. Our experience suggests that high-dose steroid therapy may be efficacious in the management of a severe complication of crizotinib therapy. However, potent antifungal therapy should be considered to prevent the risk of severe aspergillosis.
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PURPOSE: The aim of this study was to evaluate the diagnostic accuracy of postnatal multidetector computed tomography (MDCT) compared with prenatal ultrasound (US), surgical findings, and histology, in 33 patients with congenital cystic lung disease. METHODS: Thirty-three patients, 17 males and 16 females, were evaluated by MDCT. Twenty-seven of these patients underwent prenatal US between week 18 and 22, and between week 32 and 35 of gestation. Lung lobectomy, segmentectomy, atypical resection, lesion resection were performed in 31 patients and surgical specimens were analysed. RESULTS: Prenatal US and MDCT correctly diagnosed 76.9 and 94 % of the lesions, respectively. Disagreement occurred in six lesions with prenatal US and in two lesions with MDCT. No statistically significant differences were observed between the two techniques (P = 0.122). CONCLUSIONS: As most surgeons consider the surgical resection of these lesions mandatory, our study underscores the essential role of imaging, in particular CT, in providing invaluable preoperative information on congenital cystic lung diseases recognised in uterus.
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Enfermedades Pulmonares/congénito , Enfermedades Pulmonares/diagnóstico , Tomografía Computarizada por Rayos X , Ultrasonografía Prenatal , Femenino , Humanos , Lactante , Recién Nacido , Enfermedades Pulmonares/patología , Enfermedades Pulmonares/cirugía , Masculino , Tomografía Computarizada Multidetector , Reproducibilidad de los Resultados , Estudios RetrospectivosRESUMEN
The clonal/neoplastic nature of Langerhans cell histiocytosis (LCH) has recently been demonstrated by a high prevalence of BRAF mutations, including pulmonary LCH (PLCH). We hypothesized that BRAF-induced senescence, as demonstrated in nevi and melanoma, is involved in the pathogenesis of LCH and PLCH. In a series of pulmonary (19 cases) and non-pulmonary LCH (19 cases), including five aggressive cases, we investigated occurrence of the BRAF V600E mutation by molecular analysis and/or immunohistochemistry using a validated antibody (VE1). The expression of cell-senescence markers p16(INK4a) and p21(CIP1/WAF1) was also immunohistochemically investigated. We demonstrated that 6/19 cases of LCH and 12/19 cases of PLCH were VE1 positive, matching with molecular analysis, and in all cases both p16(INK4a) and p21(CIP1/WAF1) were expressed, irrespective of BRAF mutation status. Interestingly, all the aggressive cases did not express p16(INK4a), thus suggesting that loss of senescence control could be related to clinical aggressiveness of LCH, as in melanoma.
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Senescencia Celular/genética , Histiocitosis de Células de Langerhans/genética , Pulmón/metabolismo , Mutación Missense , Proteínas Proto-Oncogénicas B-raf/genética , Adolescente , Adulto , Anciano , Preescolar , Inhibidor p16 de la Quinasa Dependiente de Ciclina/metabolismo , Inhibidor p21 de las Quinasas Dependientes de la Ciclina/metabolismo , Análisis Mutacional de ADN , Femenino , Histiocitosis de Células de Langerhans/metabolismo , Histiocitosis de Células de Langerhans/patología , Humanos , Inmunohistoquímica , Lactante , Pulmón/patología , Masculino , Persona de Mediana Edad , Proteínas Proto-Oncogénicas B-raf/metabolismo , Adulto JovenRESUMEN
Perivascular epithelioid cell neoplasms, also known as "PEComas", are unusual mesenchymal tumors, exhibiting perivascular epithelioid cell differentiation and characterized by a mixed myogenic and melanocytic phenotype. "PEComas not otherwise specified" (PEComas-NOS) are especially rare; consequently, there are no published large series, but only case reports. These tumors are rarely located retroperitoneally, with only about 15 such cases reported. We report a case of pulmonary diffuse lymphangioleiomyomatosis with large retroperitoneal PEComa-NOS in a 66-year-old woman. Treatment consisted only of tumor resection, without additional adjuvant therapy. We emphasize the importance of correct immunohistochemistry diagnosis, initiation of recommended treatment, and surveillance of this unique family of tumors.
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Neoplasias Pulmonares/cirugía , Linfangioleiomiomatosis/cirugía , Neoplasias Primarias Múltiples , Neoplasias de Células Epitelioides Perivasculares/cirugía , Neoplasias Retroperitoneales/cirugía , Anciano , Femenino , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patología , Linfangioleiomiomatosis/diagnóstico , Linfangioleiomiomatosis/patología , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Neoplasias de Células Epitelioides Perivasculares/patología , Neoplasias Retroperitoneales/diagnóstico , Neoplasias Retroperitoneales/patología , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
AIM: To investigate the presence of human papillomavirus (HPV) DNA in squamous cell carcinoma (SCC) of the lung, and to examine the protein expression and genomic status of p16 and their correlation. MATERIALS AND METHODS: Fifty cases of surgically removed primary lung SCC were analyzed. HPV detection was performed by Polymerase Chain Reaction (PCR) of L1 region and E6/E7 region of high-risk viral genotype. p16 protein and gene analysis were carried out by immunohistochemistry and Fluorescence In Situ Hybridization (FISH), respectively. RESULTS: HPV DNA was found in two out of 50 cases (4%, p>0.05). In five cases, p16 protein expression was positive. The data showed that in 45/50 cases (90%, p<0.05) HPV DNA and p16 were both negative, in 2/50 cases (4%) both were positive, and in 3/50 (6%) cases, HPV DNA was negative and p16 positive. FISH analysis for p16 gene showed aneusomia of chromosome 9 with or without loss of p16 gene in all cases (100%, p<0.05). CONCLUSION: Our study shows that in pulmonary SCC, there is no association between the presence of HPV DNA and the expression of p16 protein. Furthermore, the loss of the p16 gene and the instability of chromosome 9 were frequently found in HPV DNA-negative cases.