Browsing by Subject "Differential diagnosis"

Now showing 1 - 7 of 7
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    Angiosarcomas: histology, immunohistochemistry and molecular insights with implications for differential diagnosis
    (Universidad de Murcia. Departamento de Biología Celular e Histología, 2021) Machado, Isidro; Giner, Francisco; Lavernia, Javier; Cruz, Julia; Traves, Víctor; Requena, Celia; Llombart, Beatriz; López Guerrero, José Antonio; Llombart Bosch, Antonio
    Angiosarcomas (AS) represent a heterogenous group of tumors with variable clinical presentation. AS share an important morphologic and immunohistochemical overlap with other sarcomas, hence the differential diagnosis is challenging, especially in poorly-differentiated tumors. Although molecular studies provide significant clues, especially in the differential diagnosis with other vascular neoplasms, a thorough hematoxylin and eosin analysis remains an essential tool in AS diagnosis. In this review, we discuss pathological and molecular insights with emphasis on implications for differential diagnosis in cutaneous, breast, soft tissue and visceral AS.
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    H3F3A G34 mutation DNA sequencing and G34W immunohistochemistry analysis in 366 cases of giant cell tumors of bone and other bone tumors
    (Universidad de Murcia. Departamento de Biología Celular e Histología, 2021) Gong, Lihua; Bui, Marilyn M.; Zhang, Wen; Sun, Xiaoqi; Zhang, Ming; Yi, Ding
    H3F3A mutations and the expression of glycine 34 to tryptophan (G34W) mutants in giant cell tumors of bone (GCTBs) and other bone tumors were detected to compare H3F3A mutation types and the expression of G34W-mutant protein in order to provide a theoretical basis for using H3F3A mutations as a diagnostic and differential-diagnostic tool for GCTBs. A total of 366 bone tumor cases were investigated. The cases involved 215 men and 151 women, whose median age was 29 years (3-84). The cases included GCTB (n=180), recurrent GCTB (n=19), GCTB with lung metastasis (n=5), pediatric GCTB (n=15), primary malignant GCTB (n=5), chondroblastoma (CB, n=61), chondrosarcoma grade II (n=15), dedifferentiated chondrosarcoma (n=17), chondromyxoid fibroma (n=9), aneurysmal bone cyst (n=9), nonossifying fibroma (n=9), osteosarcoma (n=16), and undifferentiated sarcoma (n=6). Sanger DNA sequencing analysis was used to detect H3F3A mutations. Immunohistochemistry was used to assess the expression of the G34W-mutated protein in these bone tumors. DNA sequencing results revealed H3F3A mutations in 95.00% of GCTBs (171/180), including glycine 34 to tryptophan (G34W, 163/180, 90.56%), glycine 34 to leucine (G34L, 3/180, 1.67%), glycine 34 to valine (G34V, 3/180, 1.67%), and glycine 34 to arginine (G34R, 2/180, 1.11%). Recurrent GCTBs mostly had the H3F3A G34W mutation (18/19, 94.74%), and GCTBs with lung metastasis all had the H3F3A G34W mutation (5/5, 100%). Pediatric GCTBs had a mutation rate of 93.33% (14/15), including one case with G34L. Four cases of primary malignant GCTB showed the H3F3A G34W mutation (4/5, 80.00%), and the classical GCTB component and malignant component showed consistent mutation types. Immunohistochemistry showed that GCTBs harboring G34W also expressed the mutant protein in tumor cell nuclei. Furthermore, one case of GCTB and one case of recurrent GCTB showed positive G34W immunostaining results despite being negative for the genetic mutation. Other bone tumors all showed wildtype expression in both DNA sequencing and immunohistochemistry. Our large-sample DNA sequencing analysis detected four different forms of mutations in GCTBs, including three rare mutation forms. The most common mutation of H3F3A was G34W, which was in accordance with the expression of G34W in GCTBs detected by immunohistochemistry. Although DNA sequencing analysis detected rare mutation types of H3F3A, false-negative results were also present due to the small number of cells in the samples. Detection of the most common (G34W) mutant protein by immunohistochemistry was more convenient. Given the high prevalence of these driver mutations, the detection of H3F3A mutant proteins can assist in the diagnosis of GCTB and its differential diagnosis from other bone tumors.
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    Mixed epithelial and stromal tumor of kidney with renal vein extension: an unusual case report and review of literature
    (Universidad de Murcia. Departamento de Biología Celular e Histología, 2017) Xie, Wen Lin; Lian, Jia Yan; Li, Bin; Tian, Xiao Ying; Li, Zhi
    Mixed epithelial and stromal tumor of kidney (MESTK) is a rare but distinct renal complex neoplasm composed of a mixture of mesenchymal and epithelial elements with characteristic ovarian-type stroma. Due to its relative rarity, little is known about the histogenesis and prognostic factors of this tumor. Although most reported cases display bland histological features and benign clinical course, a few cases of malignant MESTK have been described. We report an unusual case of MESTK in a 50-year-old female patient with renal venous involvement. Macroscopically, the tumor was solid and unencapsulated in the central region of left kidney. There was a polypoid mass with slender pedicle found to extend into the renal vein forming an intravenous tumor thrombus. Histologically, both renal and intravenous mass were composed of bland spindleshaped cells and round dilated tubules lined by epithelium without any cytological atypia. The spindle cells were diffusely positive for smooth muscle actin and desmin, while tubules were positive for pan-cytokeratin (AE1/AE3). A diagnosis of MESTK with renal vein extension was made. The patient received no adjuvant treatment after radical nephrectomy. There was no sign of recurrence or metastasis of tumor found in a period of 16-month regular follow-up. To our knowledge, this is the first case of MESTK with renal vein extension, but lacking malignant histological appearance. Additional studies of MESTK with vein involvement will be needed to determine whether this imparts any adverse behavior, similar to other benign renal tumors with vascular involvement.
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    Pathological diagnosis, differential diagnosis and origin investigation of easily misdiagnosed adult gastric duplication cysts
    (Universidad de Murcia, Departamento de Biologia Celular e Histiologia, 2022) Liu, Fangfang; Zhao, Huimin
    Objectives. To study diagnosis, differential diagnosis, and origin of easily misdiagnosed adult gastric duplication cysts. Methods. Six cases with GDCs were studied using immunohistochemical methods to research the expression of tumor markers. Results. Most GDCs were located in the abdominal cavity outside the digestive organs. The cyst wall tissues included a repetition of the full-thickness structure of the stomach wall that was lined by a variety of different epithelia. The expression of CK7 was positive in all epithelia (6/6), while CK7 expression was positive in cardia glands in 5/5 and positive in fundus glands in 1/5. CK 20 was 100% (4/4) positively expressed in the SCE, 100% (3/3) negative in the CCE, and in the SE. It was also expressed positively 100% (5/5) in fundus glands and 80% (4/5) in cardia glands. Both CK7 and CK20 were negatively expressed in the pyloric glands in case 3. The expression of MUC1 was positive in all epithelia and glands, whereas MUC2 expression was negative. MUC5AC was expressed differently in epithelia and glands. Conclusions. GDCs can originate from the antrum or the fundus of the stomach. Tumor markers can help diagnosis and differential diagnosis. This study may help to improve clinical precision treatment.
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    Self-deception in forensic self-reports: Detection, effects and testing the model
    (Universidad de Murcia. Servicio de Publicaciones, 2025-10) Arce, Ramón; Fariña, Francisca; Sanmarco, Jéssica; Novo, Mercedes; Sin departamento asociado
    Background/aims: Dissimulation, understood as a positive self-presentation in self-reports, is suspected in child custody dispute forensic evaluations. Dissimulation is displayed through two-manifestations: con-cealment of negative qualities (denial of symptoms) and claiming non-existent positive qualities or exaggerating existing ones (social desirability). Moreover, the nature of dissimulation may be conscious (impression man-agement) or unconscious (self-deception). Nevertheless, the effects of self-deception in self-reports of parents involved child custody forensic dis-putes are unknown. Thus, a field study was designed with the aim of de-termining the efficacy of self-deception measures, the effects of dissimula-tion on self-reported mental health markers, and to test the purportedly unconscious nature of self-deception. Method: 223 parents involved in court-mandated child custody proceedings endorsed the MMPI-2 and 100 parents from intact families under standard instructions. The K, S, Esd and PMH4 measures of self-deception, the standard clinical scales and the ob-vious and subtle subscales were scored. Results: The results exhibited signif-icant higher scores, consistent with dissimulation, were observed in the population suspected of dissimulation (child custody litigants) in K, S, and Esd scales; and a significant association between dissimulation classification and dissimulation suspected population. In relation to the effects of dis-simulation, the results showed that the suspected population of dissimula-tion reported significantly fewer clinical symptoms (denial of symptoms) and more positive qualities related to being granted child custody (social desirability). Finally, the results suggested that the underlying process of self-deception is not unconscious for the individual exercising conscious control over his/her biased responses. Discussion: The implications of the results for forensic psychology evaluation of child custody dispute cases and the two-component model for dissimulation are discussed.
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    Síndrome de la vaca echada en bovino de lidia
    (Universidad de Murcia. Servicio de publicaciones, 2024) Marín Nicolás, Sofía; Sanes Vargas, Jose Manuel; Seva Alcaraz, Juan
    En el presente trabajo, se estudian las posibles causas responsables de los episodios de mortandad ocurridos entre las vacas reproductoras de una ganadería de lidia ubicada en la Región de Murcia, con el fin de obtener su diagnóstico e implantar las medidas oportunas para su control. El caso estudiado se desarrolló durante el mes de marzo de 2022 coincidiendo con un temporal de intensas y constantes precipitaciones que dificultaron el acceso del ganadero a la finca y, como consecuencia, el correcto manejo nutricional del ganado. El cuadro clínico de las vacas afectadas cursaba con caquexia, debilidad extrema, atrofia muscular y postración en decúbito esternal con imposibilidad para recuperar la estación. Se recabaron los principales datos climatológicos y alimentarios de dicha ganadería durante ese mes, se tomaron muestras de sangre para el estudio del hemograma y bioquímica sanguínea, y se realizó la necropsia de dos animales con la toma de muestras en formol al 10% para el estudio histopatológico. Los animales presentaban atrofia serosa y movilización de grasas, y a nivel bioquímico una hipoglucemia muy marcada junto a descenso de proteínas totales, aumento de enzimas de daño hepático y muscular, urea, bilirrubina y potasio, y un leve descenso de fósforo. El hemograma presentaba indicios de anemia macrocítica e hipercrómica y un leve descenso de las células de la serie blanca. Tras la interpretación de los datos obtenidos, se aporta como conclusión que un deficiente manejo nutricional es un importante agente causal del síndrome de la vaca echada en el bovino de lidia en la fase de periparto, patología no descrita hasta la fecha según la bibliografía consultada para esta raza bovina.
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    The many faces of atypical Ewing's sarcoma. A true entity mimicking sarcomas, carcinomas and lymphomas.
    (Springer, 2010-12-23) Machado, Isidro; Noguera, Rosa; Calabuig-Fariñas, Silvia; Aranda López, F. Ignacio; Martínez-Lorente, Antonio; Navarro, Samuel; Llombart-Bosch, Antonio; Alcaraz Mateos, Eduardo; Oftalmología, Optometría, Otorrinolaringología y Anatomía Patológica
    Ewing's sarcoma family of tumours (ESFT) comprises a group of small round cell tumours (SRCT) genetically defined by specific chromosomal translocations resulting in a fusion of the EWSR1 gene with a member of the ETS family of transcription factors. Atypical ESFT are the most challenging of the ESFT subtypes, and the differential diagnosis with other SRCT of bone and soft tissue is difficult since these subtypes can resemble other neoplasms. The present article describes nine cases of genetically confirmed, atypical ESFT, having unusual alterations at morphological and immunohistochemical (IHC) levels associated with atypical clinical presentation mimicking sarcomas, carcinomas and lymphomas. Present results demonstrate that ESFT showing overlapping morphological and immunohistochemical features with other SRCT of soft tissue and bone, or even with carcinomas or lymphoma, can be differentiated using molecular techniques. In SRCT with EWSR1 translocation demonstrated by FISH, the RT-PCR analysis of specific sarcoma-related gene fusion can offer important clues for the diagnosis of specific entities, especially in tumours with unusual histopathology and/or IHC findings. Thus, we confirm that the integration of clinical, histopathological, IHC and genetic data becomes decisive in the diagnosis of bone and soft tissue sarcomas.