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BACKGROUND: The incidence of renal tumors has steadily increased over the past decade. In this study, the authors performed a systematic review and analysis of the literature on renal fine-needle aspiration (FNA) to determine its performance and explore whether a standardized classification system can be used for reporting renal FNA cytology. METHODS: A systematic search of published articles on renal FNA was conducted. The data on FNA and histologic diagnosis were extracted and categorized, and the risk of malignancy was calculated. Different scenarios were used to estimate FNA performance statistics. RESULTS: Of the 3766 potentially relevant studies, 23 met the inclusion criteria of the study. The 2231 FNA cases included were re-categorized according to the classification system, rendering 142 (6.36%) nondiagnostic, 270 (12.1%) nonneoplastic, 271 (12.14%) benign neoplasm, 65 (2.91%) renal neoplasm with unknown malignant potential, oncocytic type, 25 (1.12%) atypia of undetermined significance, 60 (2.68%) suspicious for malignancy, and 1398 (62.66%) malignant FNA diagnoses. The risk of malignancy in these cases was 65.4%, 18.1%, 16.6%, 16.9%, 60%, 73.3%, and 96.9%, respectively. According to the classification system, the study indicated that the accuracy of renal FNA was between 91% and 95%, the sensitivity was 90.9%-96.7%, and the specificity was 82%-92% in different scenarios. CONCLUSIONS: There is a need for a standardized reporting in renal cytology that will improve the sensitivity and accuracy of renal cytology, reduce the rate of indeterminate diagnoses, and alter the management strategies of renal lesions. Based on the available literature, a new reporting system is proposed, including categories with an associated risk of malignancy.
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Neoplasias Renales , Humanos , Neoplasias Renales/patología , Neoplasias Renales/clasificación , Neoplasias Renales/diagnóstico , Biopsia con Aguja Fina , Citodiagnóstico/métodos , Citodiagnóstico/normasRESUMEN
OBJECTIVES: To examine the protective effects of melatonin on laryngeal radiation damage. MATERIALS AND METHODS: 31 rats were divided into 4 groups as follows: 1) the control (C) group (n=7), was only injected with intraperitoneal ethanol solution; 2) the melatonin (M) group (n=8), was injected intraperitoneal melatonin solution with 5 mg/kg; 3) the radiotherapy (RT) group (n=8) was given laryngeal radiation after intraperitoneal injection of ethanol solution; 4) the M + RT group (n=8), RT was given 30 minutes after 5 mg/kg dose of melatonin solution was injected. Drug and radiation applications were continued for 5 days. The weight changes of the rats were recorded. At the end of the study, inflammation, neutrophil migration and lymphoid aggregates, collagen distribution, laryngeal glandular structures and biochemical analysis of laryngeal tissues [malondialdehyde (MDA), total oxidant status (TOS) and total antioxidant status (TAS)] were determined. RESULTS: In the M+RT group, the first day and the 30th weight differences were significantly increased when compared with the RT group (p=0.050). Inflammation, neutrophil migration, lymphoid aggregate, disorganized collagen distribution and loss of glandular tissues were found statistically more in the RT group than in the C group (p<0.05). MDA and TOS levels were in the M + RT group exhibited better values than they did in the RT group (p<0.05). TAS levels was markedly increased in the M + RT group than in the RT group (p<0.001). CONCLUSION: Administration of melatonin to rats prior receiving laryngeal radiation, decreases the level of oxidative stress markers and increases the level of anti-oxidative markers.
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Melatonina , Ratas , Animales , Melatonina/farmacología , Melatonina/uso terapéutico , Ratas Wistar , Antioxidantes/farmacología , Estrés Oxidativo , InflamaciónRESUMEN
INTRODUCTION: Low-grade epilepsy-associated neuroepithelial tumors (LEATs) create a diagnostic challenge in daily practice and intraoperative pathological consultation (IC) in particular. Squash smears are extremely useful in IC for accurate diagnosis; however, the knowledge on cytopathologic features of LEATs is based on individual case reports. Here, we discuss the 3 most common and well-established entities of LEATs: ganglioglioma (GG), dysembryoplastic neuroepithelial tumor (DNT), and papillary glioneuronal tumor (PGNT). METHODS: Thirty patients who underwent surgery for GG, DNT, and PGNT between 2001 and 2021 were collected. Squash smears prepared during intraoperative consultation were reviewed by 1 cytopathologist and an experienced neuropathologist. RESULTS: Among the 30 tumors, 16 (53.3%) were GG, 11 (36.6%) DNT, and 3 (10%) PGNT. Cytomorphologically, all of the 3 tumor types share 2 common features such as dual cell population and vasculocentric pattern. GG smears were characteristically composed of dysplastic ganglion cells and piloid-like astrocytes on a complex architectural background of thin- to thick-walled vessels. DNT, on the other hand, showed oligodendroglial-like cells in a myxoid thin fibrillary background associated with a delicate capillary network. Common cytological features of PGNT were hyperchromatic cells with narrow cytoplasm surrounding hyalinized vessels forming a pseudopapillary pattern and bland cells with neuroendocrine nuclei dispersed in a neuropil background. CONCLUSION: A higher diagnostic accuracy can be obtained when squash smears are applied with frozen sections. However, it is important to integrate clinical and radiologic features of the patient as well as to know the cytopathologic features of the LEAT spectrum in the context of differential diagnosis to prevent misinterpretation in the IC.
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Neoplasias Encefálicas , Epilepsia , Neoplasias Neuroepiteliales , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/cirugía , Citodiagnóstico/métodos , Epilepsia/diagnóstico , Epilepsia/etiología , Epilepsia/cirugía , Ganglioglioma/complicaciones , Ganglioglioma/patología , Ganglioglioma/cirugía , Humanos , Periodo Intraoperatorio , Neoplasias Neuroepiteliales/complicaciones , Neoplasias Neuroepiteliales/patología , Neoplasias Neuroepiteliales/cirugía , Derivación y ConsultaRESUMEN
PURPOSE: To assess polar vessel presence and enhancement 4DCT imaging and their relation with biochemical and histopathological features. METHODS: Patients with primary hyperparathyroidism and preoperative 4DCT imaging were screened retrospectively and those with histopathologically proven diagnosis of PA were included. Biochemical findings, densitometric measurements (HUprecontrast, HUarterial, HUvenous, HUwash-in, HUwash-out, HUretained) and CTvolume of PA on 4DCT, presence of a polar vessel (PV), and histopathological features were recorded. Correlations between serum PTH, calcium levels and densitometric measurements of PA on 4DCT were investigated. Differences between subgroups created according to PV presence were also evaluated. RESULTS: Thirty-nine patients were enrolled (F/M = 32/7, median age = 57, interquartile range = 50-62 years). In all patients, serum PTH levels positively correlated with CTvolume (r = 0.398, p = 0.012) but negatively correlated with HUarterial (r = - 0.366; p = 0.022), HUvenous (r = - 0.452; p = 0.004) and HUretained (r = - 0.421; p = 0.008). In PV (-) PAs, PTH levels were positively correlated with CTvolume (r = 0.608, p ≤ 0.002) and negatively with HUarterial (r = - 0.449, p ≤ 0.028), HUvenous (r = - 0.560, p = 0.004), HUwash-in (r = - 0.460, p = 0.024), and HUretained (r = - 0.539, p = 0.007). No correlation between PTH levels and densitometric measurements was found in PV (+) PAs. HUwash-in and HUwash-out were significantly higher in PV (+) PAs compared to PV (-) PAs (p = 0.021 and p = 0.033, respectively). Histopathologic features revealed no difference according to the presence of PV. CONCLUSION: PTH levels might have an association with imaging findings of PAs, especially when categorized with respect to PV presence. PTH levels were negatively correlated with degree of enhancement in PV (-) PAs. Therefore, radiologists should be aware that in patients with high serum PTH levels and without a discernible PV, PA might be difficult to localize.
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Adenoma , Neoplasias de las Paratiroides , Adenoma/diagnóstico por imagen , Adenoma/patología , Tomografía Computarizada Cuatridimensional , Humanos , Persona de Mediana Edad , Hormona Paratiroidea , Neoplasias de las Paratiroides/diagnóstico por imagen , Neoplasias de las Paratiroides/patología , Estudios RetrospectivosRESUMEN
OBJECTIVES: In this study, a histopathological comparison was aimed between platelet-rich plasma (PRP) injection and dexamethasone injection in the prevention of scar formation after vocal fold injury. MATERIALS AND METHODS: Electrocautery was applied to damage the right and left vocal folds of a total of 12 New Zealand rabbits. PRP obtained from the rabbit's own blood was injected into the right vocal fold, and dexamethasone was injected into the left vocal fold. After 8 weeks, the experimental animals were euthanized, and the levels of inflammatory cell infiltration, vascularization, collagen, elastin, and hyaluronic acid (HA) were compared in histopathological evaluation. RESULTS: In statistical comparison of histopathological data obtained; in terms of plasma cell infiltration, vascularization, and edema parameters, statistically significant results were obtained in favor of the PRP group. Although the difference between collagen, elastin and HA, which are critical in vocal fold scar healing, was more positive in favor of PRP, no significant result was revealed in the statistical evaluation. CONCLUSIONS: PRP injection in rabbits with vocal fold damage reveals similar characteristics with dexamethasone injection in preventing scar formation. PRP injection has favorable effects on vascularization, prevention of edema, and number of plasma cells.
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Plasma Rico en Plaquetas , Pliegues Vocales , Animales , Cicatriz/etiología , Cicatriz/patología , Cicatriz/prevención & control , Dexametasona/farmacología , Conejos , Pliegues Vocales/patología , Cicatrización de HeridasRESUMEN
BACKGROUND: Thrombospondin type 1 domain-containing 7A (THSD7A) has emerged as a new potential molecular tool for multiple tumors since that THSD7A was detected to be expressed in various malignant tumor types including colorectal cancer (CRC). Thus, we investigated the correlation between THSD7A expression and pathologic determinants of azoxymethane (AOM)-induced CRC in a rat model. METHODS: A total of 30 rats were included in the study (experimental group; n = 15, control group; n = 15). Azoxymethane was administered to the experimental group weekly as subcutaneous injections at a dose of 15 mg/kg bodyweight for 3 weeks. Five months later, 42 tumors were obtained in the study group and histopathologic evaluation of CRC tumors for THSD7A was performed by immunohistochemical staining. Thrombospondin type 1 domain-containing 7A expression was classified according to staining levels. RESULTS: While 28.6% of the colonic tumors were stained as negative, mild-moderate and strong staining was determined in 61.9% and 9.5% of the tumors, respectively. Thrombospondin type 1 domain-containing 7A expression levels inversely correlated with Ki-67 expression (P < .001) and tumor grade (P =.02). Receiver operating characteristic analysis showed Ki-67 staining ≥20.5% was determined as a cut-off value for negatively stained THSD7A tumors with 91% sensitivity and 69% specificity (P = .001, area under curve: 0.822). Moreover, higher Ki-67 expression was found to be associated with higher tumor grade (P < .001), presence of lymphatic invasion (P = .003), and higher T stage (P = .003). CONCLUSION: Negative staining for THSD7A seems to be linked to invasive pathologic determinants in AOM-induced CRC in rats.
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Azoximetano/toxicidad , Neoplasias del Colon/metabolismo , Trombospondinas/metabolismo , Animales , Neoplasias del Colon/inducido químicamente , Antígeno Ki-67 , Curva ROC , Ratas , Trombospondinas/genéticaRESUMEN
BACKGROUND: Urine cytology remains to be the test of choice in the detection of high-grade urothelial carcinomas (HGUC) due to its favorable sensitivity. However, a significant rate of cases is reported under atypical/indeterminate categories, which result in a decrease in its specificity. Providing standardized cytologic criteria, one of the aims of The Paris System (TPS) is to reduce the use of indeterminate diagnoses and provide a higher predictive value in these categories. AIMS: We compared the diagnostic performances of TPS and our original reporting system, and also investigated the interobserver reproducibility of the cytologic criteria used. MATERIALS AND METHODS: A total of 386 urine samples were reviewed retrospectively. Original cytologic diagnoses have been made using similar cytologic features proposed by TPS. All slides were recategorized after the use of the cytologic criteria as described by TPS guideline. RESULTS: After TPS, specificity of the test increased from 39.6% to 63.5, sensitivity decreased from 92.5% to 88.8%, and diagnostic accuracy increased from 63.6% to 75%. The use of negative category increased threefold. Frequencies of indeterminate categories of atypical urothelial cells (AUC) and suspicious for HGUC (SHGUC) decreased by 36% and 56.5%, respectively. A subsequent detection of HGUC after AUC and SHGUC categories increased by 38% and 64%, respectively. Interobserver agreement for TPS categorization was 39%. CONCLUSIONS: TPS improved diagnostic accuracy of urine cytology by reducing the use of indeterminate categories, and resulted in increase in their predictive value for subsequent diagnosis of HGUC. However, reproducibility of diagnostic categories seemed to be imperfect.
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Post-kala-azar dermal leishmaniasis (PKDL) is a complication of visceral leishmaniasis (VL) that most frequently occurs after an episode of VL caused by Leishmania donovani. In this case report, we present a 21-year-old male patient with persistent skin lesions and recurrent visceral leishmaniasis (VL) due to Leishmania infantum. The patient did not respond to multiple lines of anti-leishmanial treatment (including Liposomal amphotericin B and miltefosine) and later died from cerebral lesions presumed to be secondary to persistent VL.
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Anfotericina B/uso terapéutico , Antiprotozoarios/uso terapéutico , Leishmania infantum/fisiología , Leishmaniasis Visceral/patología , Fosforilcolina/análogos & derivados , Enfermedades Cutáneas Parasitarias/patología , Albania/etnología , Resultado Fatal , Humanos , Leishmaniasis Visceral/complicaciones , Leishmaniasis Visceral/parasitología , Leishmaniasis Visceral/prevención & control , Masculino , Fosforilcolina/uso terapéutico , Recurrencia , Enfermedades Cutáneas Parasitarias/parasitología , Enfermedades Cutáneas Parasitarias/prevención & control , Turquía , Adulto JovenRESUMEN
Ectopic pancreatic tissue (EPT) is a congenital pancreatic tissue located in a location other than the normal anatomical site of the pancreas. It is usually asymptomatic and can be detected during surgical procedures or postoperatively in pathology examinations. The importance of EPT is the possibility of malignant transformation, although rare. It can mimic malignant masses. Since preoperative diagnosis is often unlikely, resection is the preferred method. We report a case with gallstones who underwent elective cholecystectomy. EPT was detected in the gallbladder.
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Vesícula Biliar/patología , Cálculos Biliares/patología , Hallazgos Incidentales , Páncreas , Colecistectomía Laparoscópica , Cálculos Biliares/cirugía , Humanos , Masculino , Persona de Mediana EdadRESUMEN
The tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare disorder that is probably underdiagnosed in clinical practice. Ocular involvement in TINU syndrome not only presents with the nongranulomatous anterior uveitis in 80% of patients but also manifests as intermediate, posterior, or panuveitis. This case report mentions an adult male patient who presented with granulomatous iridocyclitis with panuveitis and mild renal insufficiency. Workup for connective tissue and infectious diseases was negative for the patient. He was diagnosed with TINU syndrome based on the findings of renal biopsy. Both the uveitis and nephritis promptly responded well to steroid treatment, and there was no recurrence during the follow-up of 24 months.
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BACKGROUND/AIMS: Gastric neuroendocrine tumors (G-NETs) are rare tumors, but their incidence is gradually increasing. Despite the existence of many classification systems, determining prognosis and planning treatment in patients with G-NETs remains a clinical challenge. In this study, the prognostic value of the World Health Organization (WHO) 2017 grading system and the effect of surgery on survival in low grade neuroendocrine tumors were investigated. MATERIALS AND METHODS: G-NETs who were diagnosed between January 2000 and May 2017 were included in the study. Patients' demographic characteristics, treatment details, and survival data were obtained from medical charts. Pathological samples were re-classified according to the WHO 2017 grading system. RESULTS: Of the total 94 evaluated patients, 50 (53.2%) were classified with G1 NETs, 37(39.4%) with G2 NETs, 4(4.2%) with well-differentiated G3 NETs, and the remaining 3 patients with poorly differentiated G3 neuroendocrine carcinoma (NEC). The median follow-up time was 83.2 months. There was a statistically significant difference in 5-year progression free survival (PFS) between G1 tumors (100%) and G2 tumors (76%) (p<0.001). However, there was no statistically significant deference in 5-year overall survival rate (OS) for G1 (97%) and G2 (82%) tumors (p=0.141). When G2 and G1 NETs were compared according to their surgical approach, radical surgery was more frequently performed in patients with G2 tumors (p<0.001). However, radical surgery did not improve PFS in G1 and G2 NETs. CONCLUSION: The WHO 2017 NET classification system may have low prognostic value for determining the prognosis of patients with G1 and G2 tumors. Radical surgery for G1 and G2 NETs did not improve PFS in our study.
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Clasificación del Tumor/clasificación , Tumores Neuroendocrinos/clasificación , Tumores Neuroendocrinos/diagnóstico , Neoplasias Gástricas/clasificación , Neoplasias Gástricas/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Clasificación del Tumor/mortalidad , Tumores Neuroendocrinos/mortalidad , Valor Predictivo de las Pruebas , Pronóstico , Estudios Retrospectivos , Neoplasias Gástricas/mortalidad , Tasa de Supervivencia , Organización Mundial de la SaludRESUMEN
OBJECTIVE: Inter-observer differences in the diagnosis of HPV related cervical lesions are problematic and response of gynecologists to these diagnostic entities is non-standardized. This study evaluated the diagnostic reproducibility of "cervical intraepithelial neoplasia" (CIN) and "squamous intraepithelial lesion" (SIL) diagnoses. MATERIAL AND METHOD: 19 pathologists evaluated 66 cases once using H&E slides and once with immunohistochemical studies (p16, Ki-67 and Pro-ExC). Management response to diagnoses was evaluated amongst 12 gynecologists. Pathologists and gynecologists were also given a questionnaire about how additional information like smear results and age modify diagnosis and management. RESULTS: We show moderate interobserver diagnostic reproducibility amongst pathologists. The overall kappa value was 0.50 and 0.59 using the CIN and SIL classifications respectively. Impact of immunohistochemical evaluation on interpretation of cases differed and there was lack of statistically significant improvement of interobserver diagnostic reproducibility with the addition of immunohistochemistry. We saw that choice of treatment methods amongst gynecologists varied and overall concordance was only fair to moderate. The CIN2 diagnostic category was seen to have the lowest percentage agreement amongst both pathologists and gynecologists. We showed that pathologists had diagnostic "styles" and gynecologists had management "styles". CONCLUSION: In summary each pathologist had different diagnostic tendencies which were affected not only by histopathology and marker studies, but also by the patient management tendencies of the gynecologist that the pathologist worked with. The two-tiered modified Bethesda system improved diagnostic agreement. We concluded that immunohistochemistry should be used only to resolve problems in select cases and not for every case.
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Lesiones Intraepiteliales Escamosas de Cuello Uterino/patología , Displasia del Cuello del Útero/patología , Neoplasias del Cuello Uterino/patología , Toma de Decisiones Clínicas , Colposcopía , Consenso , Inhibidor p16 de la Quinasa Dependiente de Ciclina/análisis , Femenino , Humanos , Inmunohistoquímica , Antígeno Ki-67/análisis , Variaciones Dependientes del Observador , Papillomaviridae/patogenicidad , Infecciones por Papillomavirus/patología , Infecciones por Papillomavirus/virología , Patólogos , Pautas de la Práctica en Medicina , Valor Predictivo de las Pruebas , Reproducibilidad de los Resultados , Lesiones Intraepiteliales Escamosas de Cuello Uterino/metabolismo , Lesiones Intraepiteliales Escamosas de Cuello Uterino/terapia , Lesiones Intraepiteliales Escamosas de Cuello Uterino/virología , Encuestas y Cuestionarios , Resultado del Tratamiento , Turquía , Neoplasias del Cuello Uterino/química , Neoplasias del Cuello Uterino/terapia , Neoplasias del Cuello Uterino/virología , Frotis Vaginal , Displasia del Cuello del Útero/química , Displasia del Cuello del Útero/terapia , Displasia del Cuello del Útero/virologíaRESUMEN
Actinomyces spp. are located without displaying any pathogenic effect in the oral flora. However, the disruption of oral microenvironmental balance, mucosal tissue integrity, and defense system can cause microorganisms to settle on deep periodontal tissues and to induce pathologic reactions. The present case report describes erythematous and desquamative lesions with pseudomembrane limited to the gingiva. In the histopathologic examination, Actinomyces colonies were isolated from the gingiva. On the basis of histopathologic and laboratory findings, the lesions were diagnosed as Actinomyces- associated lesions of the gingiva. No condition that caused immuno suppression was present in the patient. Nevertheless, local effect of the chlorhexidine mouthwash usage for a period may induce irritation of the oral keratinized tissue. The localized form of actinomycotic lesions occurs seldom in the gingival tissues. In rare cases like this, the practice of differential diagnosis with a multi-disciplinary approach is very important for the accurate diagnosis and appropriate treatment planning.
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Granulomas are rarely seen in gastric biopsies mostly as an involvement of granulomatous diseases like sarcoidosis, Crohn's disease, infections, neoplasms, and vasculitis. Here, we claim cyanoacrylate as a foreign body type granuloma-causing agent in the stomach after vascular embolisation. We present cyanoacrylate associated gastric changes of three cases: two endoscopic biopsies and one gastric resection. In two cases, cyanoacrylate associated ulcers and granulomatous inflammation were observed in gastric mucosal biopsies following endoscopic examination after 7 months and 6 years of the glue injections, respectively. In the third case, the cyanoacrylate injection was performed 2 months prior to the surgery. Then the patient underwent distal pancreatectomy for pancreatic adenocarcinoma and during the operation a gastric mass was resected with a suspicion of tumoral infiltration. These three cases demonstrated that glue exposure causes active chronic inflammation with foreign body type granulomas, mucosal ulceration, and bleeding in the gastric mucosa. Even further, it can induce mass formation in the injection sites.
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OBJECTIVE: Intraoperative consultation plays an important role in the management of soft tissue sarcomas, such as rhabdomyosarcoma. In this study, we aimed to draw attention to the important points during frozen section interpretation, and analyse the accuracy of frozen diagnosis in rhabdomyosarcoma patients. MATERIAL AND METHOD: The cases, both diagnosed as rhabdomyosarcoma or followed with a history of rhabdomyosarcoma, and interpreted with intraoperative consultation (frozen section) between 2000 and 2013 were culled from pathology archives. The diagnoses were confirmed by desmin and myogenin, immunohistochemically. The frozen and final diagnoses were noted of 21 biopsy specimens of 19 patients. Sensitivity and specificity of intraoperative consultation were calculated regarding to the major diagnostic discrepancies leading to a change in surgical management of the patient, after exclusion of the cases deferred to paraffin section. RESULTS: Of the evaluated 21 biopsy material, 3 (14%) were misdiagnosed: Of the 2 false negative embryonal rhabdomyosarcoma cases, sample was not representative of the tumor, and there was chemo/radiotherapy induced changes in the other case. In the only false positively diagnosed case with a known history of rhabdomyosarcoma, inflammatory cells were misinterpreted as small round cell neoplasm. In 5 (29%) of 21 biopsies, a frozen diagnosis could not be given, and the diagnosis was deferred. Six cases (29%) were evaluated with cytological squash or imprint preparation; none of the misdiagnosed cases was evaluated with adjunct cytological preparation. Six of 8 misdiagnosed or deferred biopsies showed morphological changes secondary to radiotherapy and/or chemotherapy. Sensitivity, specificity, positive predictive value, and negative predictive value were calculated as 85%, 67%, 92% and 50%, respectively. CONCLUSION: Intraoperative consultation for rhabdomyosarcoma is a reliable tool with high sensitivity and fair specificity. Cases with treatment effect may lead to diagnostic difficulties, especially false negative results. Understanding the diagnostic algorithm of surgeon may prevent misdiagnosis of frozen specimen. Our results also emphasize the diagnostic role of intraoperative cytology as an adjunct to frozen section.
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Secciones por Congelación , Derivación y Consulta , Rabdomiosarcoma/patología , Rabdomiosarcoma/cirugía , Adolescente , Adulto , Anciano , Algoritmos , Biomarcadores de Tumor/análisis , Biopsia , Niño , Preescolar , Errores Diagnósticos/prevención & control , Reacciones Falso Negativas , Reacciones Falso Positivas , Femenino , Humanos , Inmunohistoquímica , Lactante , Cuidados Intraoperatorios , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Reproducibilidad de los Resultados , Rabdomiosarcoma/química , Adulto JovenRESUMEN
Chronic lymphocytic leukemia/lymphoma (CLL) is an extremely rare disease during childhood. We report a 16-year-old female who presented with lymphadenopathies and she was diagnosed as T cell lymphoblastic lymphoma. Her chemotherapy response was minimal and clinical findings were unusual. Therefore, her biopsy specimen was re-examined and diagnosis was changed to CLL. Chemotherapy protocol including fludarabine, cyclophosphamide, rituximab was administrated and good response was observed. In our patient deletion at 1q21.2 region that includes aryl hydrocarbon receptor nuclear translocator (ARNT) gene was detected via comparative genomic hybridization method. ARNT gene deletion may be a new mutation in chronic lymphocytic leukemia development.