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1.
Nat Genet ; 56(5): 869-876, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38714868

RESUMEN

Insufficient thyroid hormone production in newborns is referred to as congenital hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland with multiple nodules, is usually seen in adults and is recognized as a separate disorder from congenital hypothyroidism. Here we performed a linkage analysis of a family with both nongoitrous congenital hypothyroidism and MNG and identified a signal at 15q26.1. Follow-up analyses with whole-genome sequencing and genetic screening in congenital hypothyroidism and MNG cohorts showed that changes in a noncoding TTTG microsatellite on 15q26.1 were frequently observed in congenital hypothyroidism (137 in 989) and MNG (3 in 33) compared with controls (3 in 38,722). Characterization of the noncoding variants with epigenomic data and in vitro experiments suggested that the microsatellite is located in a thyroid-specific transcriptional repressor, and its activity is disrupted by the variants. Collectively, we presented genetic evidence linking nongoitrous congenital hypothyroidism and MNG, providing unique insights into thyroid abnormalities.


Asunto(s)
Cromosomas Humanos Par 15 , Hipotiroidismo Congénito , Repeticiones de Microsatélite , Linaje , Humanos , Hipotiroidismo Congénito/genética , Repeticiones de Microsatélite/genética , Femenino , Masculino , Cromosomas Humanos Par 15/genética , Bocio Nodular/genética , Adulto , Glándula Tiroides/patología , Glándula Tiroides/metabolismo , Ligamiento Genético
2.
Thorac Cancer ; 15(4): 353-357, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38131508

RESUMEN

A 61-year-old woman, who had a history of total thyroidectomy for follicular variant of papillary thyroid carcinoma (PTC), visited our hospital for assessment of an enlarging nodule which appeared in the lung with multiple metastatic lesions of PTC which had been stable for 17 years. Wedge resection of the lung was performed. Miliary nodules were confirmed to be metastatic PTCs based on their morphological as well as immunohistochemical findings. As for the main nodule, its morphological features suggested a diagnosis of metastatic PTC, while its immunohistochemical findings were identical with primary lung adenocarcinoma. Further genetic analysis provided no definitive information for the diagnosis of the main nodule. The present case shows the need of comprehensive analyses for differentiation between primary lung adenocarcinoma and metastatic PTCs.


Asunto(s)
Adenocarcinoma del Pulmón , Carcinoma Papilar , Neoplasias Pulmonares , Neoplasias de la Tiroides , Femenino , Humanos , Persona de Mediana Edad , Cáncer Papilar Tiroideo/diagnóstico , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/cirugía , Neoplasias de la Tiroides/genética , Carcinoma Papilar/diagnóstico , Carcinoma Papilar/cirugía , Carcinoma Papilar/genética , Adenocarcinoma del Pulmón/diagnóstico , Neoplasias Pulmonares/diagnóstico , Pulmón/patología
4.
Cancers (Basel) ; 15(5)2023 Feb 24.
Artículo en Inglés | MEDLINE | ID: mdl-36900242

RESUMEN

PURPOSES: To establish the appropriate staging system and assess the role of curative thyroidectomy alone (Surgery) vs. involved-site radiation therapy after open biopsy (OB-ISRT) in stage IE mucosa-associated lymphoid tissue (MALT) lymphoma. METHODS: We examined the Tokyo Classification as a modified classification. This retrospective cohort study included 256 patients with thyroid MALT lymphoma; 137 underwent standard therapy (i.e., OB-ISRT) and were enrolled for the Tokyo classification. Sixty stage IE patients with the same diagnosis were examined to compare Surgery with OB-ISRT. RESULTS: Overall survival (p = 0.0092) and relapse-free survival (0.00113) were significantly better in stage IE vs. stage IIE under the Tokyo classification. No OB-ISRT and Surgery patients died, but three OB-ISRT patients relapsed. The incidence of permanent complications was 28% in OB-ISRT (mainly dry mouth) and 0% in Surgery (p = 0.027). The number of painkiller prescription days was significantly greater in OB-ISRT (p < 0.001). During follow-up, the rate of the new appearance/change of the low-density area in the thyroid gland was significantly higher in OB-ISRT (p = 0.031). CONCLUSIONS: The Tokyo classification allows an appropriate discrimination between stages IE and IIE MALT lymphoma. Surgery can provide a good prognosis in stage IE cases; it also avoids complications, shortens painful periods during treatment, and simplifies ultrasound follow-up.

5.
Gan To Kagaku Ryoho ; 50(13): 1479-1481, 2023 Dec.
Artículo en Japonés | MEDLINE | ID: mdl-38303314

RESUMEN

We report the rare case of an 89-year-old female with axillary lymph node recurrence after curative surgery for transverse colon cancer who had undergone right hemicolectomy with D3 lymphadenectomy with an uneventful postoperative course. Pathological examination confirmed the tumor's status as tub2>sig, T4aN3M0, and pStage Ⅲc, and signet-ring cell carcinoma was remarkably found in the metastatic lymph node. Genetic testing revealed wild-type RAS, a BRAF mutation, and a high MSI. After 9 months of follow-up without adjuvant chemotherapy, CEA increased sharply to 41.3 ng/mL by 9 months postoperatively, and CT showed nodules in the right axilla, adrenal gland, and retroperitoneum. PET-CT showed abnormal fluorodeoxyglucose uptake in the same regions. A core needle biopsy of the axillary lymph node revealed signet-ring cell carcinoma, which was diagnosed as a recurrence of transverse colon cancer. Although we suggested chemotherapy due to the unresectable recurrence of colorectal cancer, she preferred to receive supportive care instead. Three months after the recurrence was diagnosed, CEA increased to 248.4 ng/mL, and CT showed enlargement of the axillary lesion and a new lesion in the hilum of the lung.


Asunto(s)
Carcinoma de Células en Anillo de Sello , Colon Transverso , Neoplasias del Colon , Femenino , Humanos , Anciano de 80 o más Años , Colon Transverso/cirugía , Colon Transverso/patología , Axila/patología , Tomografía Computarizada por Tomografía de Emisión de Positrones , Metástasis Linfática/patología , Ganglios Linfáticos/patología , Neoplasias del Colon/tratamiento farmacológico , Neoplasias del Colon/cirugía , Neoplasias del Colon/patología , Escisión del Ganglio Linfático , Carcinoma de Células en Anillo de Sello/tratamiento farmacológico , Carcinoma de Células en Anillo de Sello/cirugía
6.
Clin Exp Dermatol ; 47(12): 2277-2280, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35875892

RESUMEN

Here we present a patient with cutaneous eyelid melanoma patient with lacrimal sac metastasis. Clinicopathological findings in this case support the theory that lacrimal fluid can be a metastatic pathway for tumour cells. Dermatologists should be aware of the possibility that cutaneous eyelid melanoma may involve the nasolacrimal system and should examine it during the perioperative period and in postoperative follow-up.


Asunto(s)
Neoplasias de los Párpados , Enfermedades del Aparato Lagrimal , Melanoma , Conducto Nasolagrimal , Neoplasias Cutáneas , Humanos , Conducto Nasolagrimal/patología , Conducto Nasolagrimal/cirugía , Melanoma/patología , Neoplasias Cutáneas/patología , Párpados , Neoplasias de los Párpados/patología , Enfermedades del Aparato Lagrimal/patología , Enfermedades del Aparato Lagrimal/cirugía , Melanoma Cutáneo Maligno
7.
Ann Med ; 54(1): 170-180, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35000515

RESUMEN

BACKGROUND AND AIM: The severity of atrophic gastritis is significantly associated with the risk of gastric cancer. Although the current gold standard for assessing the gastric cancer risk is esophagogastroduodenoscopy with a pathological examination, the development of less-invasive biomarkers is warranted for efficient risk stratification of gastric cancer. Serum pepsinogens (PGs) are biomarkers used to predict the extent of gastric mucosal atrophy; however, they are not an accurate reflection of gastric mucosal atrophy after Helicobacter pylori eradication. The present study was conducted to investigate the usefulness of plasma ghrelin levels as a marker for gastric mucosal atrophy, and as a risk stratification marker for gastric cancer, even after H. pylori eradication. METHODS: Patients who received H. pylori eradication treatment were enrolled in the study. The severity of gastric mucosal atrophy was evaluated both endoscopically and histologically. Serum pepsinogen and plasma ghrelin levels were measured before and at 1, 12, 24, and 48 weeks after treatment. The study was approved by the Research Ethics Committee of the Keio University School of Medicine (no. 20140102; 8 July 2014). RESULTS: Eighteen patients completed the study protocol. Total and acyl plasma ghrelin levels demonstrated no significant change from before treatment to 48 weeks after eradication; however, there was a significant difference between open-type and closed-type atrophic gastritis. The PG I/II ratio increased significantly from 48 weeks after H. pylori eradication. The severity of the histological intestinal metaplasia scores correlated inversely with plasma total ghrelin levels from before to 48 weeks after H. pylori eradication. CONCLUSION: Plasma levels of ghrelin correlate well with the level of gastric mucosal atrophy, even after H. pylori eradication.KEY MESSAGESGhrelin plasma levels are associated with the progression of endoscopic atrophic gastritis, even at 48 weeks after H. pylori eradication.Ghrelin plasma levels are also associated with increased severity of histological intestinal metaplasia 48 weeks after H. pylori eradication.Pepsinogen I/II ratios increased immediately after H. pylori eradication and are inappropriate for assessing atrophic gastritis after H. pylori eradication.


Asunto(s)
Infecciones por Helicobacter , Helicobacter pylori , Atrofia/complicaciones , Atrofia/patología , Biomarcadores , Mucosa Gástrica/patología , Ghrelina , Infecciones por Helicobacter/complicaciones , Infecciones por Helicobacter/diagnóstico , Infecciones por Helicobacter/tratamiento farmacológico , Humanos
8.
Laryngoscope ; 132(1): 96-102, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34245171

RESUMEN

OBJECTIVE: The histological grade of parotid gland carcinoma (PGC) is an important prognostic factor; however, the diagnosis prior to treatment has been challenging to make. This study aimed to investigate whether the pretreatment clinical findings, including hematological inflammatory, nutritional, and immune markers, could predict the histological grade of PGC. STUDY DESIGN: Retrospective study. METHODS: We retrospectively enrolled 111 patients with PGC and evaluated the correlation between histological grade and pretreatment clinical findings such as age, sex, tumor staging, facial nerve paralysis, pain or tenderness, adhesion to the surrounding tissues or tumor immobility, and hematological markers. RESULTS: Sixty patients (54%) were diagnosed with histological high-grade PGC. Univariate analysis revealed that age, T classification, N classification, TNM stage, facial nerve paralysis, adhesion/immobility, C-reactive protein (CRP), and CRP-to-albumin ratio (CAR) were significant predictors of PGC histological grade. On multivariate analysis, high T classification (T3, 4), high N classification (≥1), and elevated CRP (≥0.22 mg/dL) were independent predictors of high-grade PGC. CONCLUSIONS: Pretreatment T classification, N classification, and CRP are significant predictors of the histological grading of PGC. Our results are useful for treatment planning and obtaining appropriate informed consent from the patients before treatment. LEVEL OF EVIDENCE: 4 Laryngoscope, 132:96-102, 2022.


Asunto(s)
Neoplasias de la Parótida/patología , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/sangre , Parálisis Facial/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Clasificación del Tumor , Glándula Parótida/patología , Neoplasias de la Parótida/clasificación , Neoplasias de la Parótida/complicaciones , Neoplasias de la Parótida/diagnóstico , Pronóstico , Estudios Retrospectivos , Factores Sexuales , Adulto Joven
9.
Endocr J ; 69(2): 139-154, 2022 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-34526426

RESUMEN

The Japanese Society of Thyroid Pathology and the Japan Association of Endocrine Surgeons developed the eighth edition of the General Rules for the Description of Thyroid Cancer (GRDTC) in December 2019. This article describes the pathological diagnosis of the GRDTC, which has been improved through repeated revisions based on the experience of Japanese pathologists and translated into English to introduce the Japanese diagnostic standard to foreign countries. In this edition of the GRDTC, the histopathological classification and descriptions differ in some respects from those of the fourth edition of the World Health Organization (WHO) classification as revised in 2017. For example, the GRDTC does not adopt the concept of borderline lesions (FT-UMP, WDT-UMP, and NIFTP) of the WHO, taking into consideration the popular histological criteria accepted by Japanese pathologists. The cytological reporting system of the GRDTC was partly modified from the Bethesda system in 2015. It has an additional cyst fluid category separated from the unsatisfactory category that has been demonstrated to be useful in Japan. This translated edition makes it easy to submit Japanese clinicopathological studies of thyroid tumors in an international journal. We also wish to contribute to the improvement, standardization, and globalization of the pathological diagnosis of thyroid tumors.


Asunto(s)
Adenocarcinoma Folicular , Procedimientos Quirúrgicos Endocrinos , Neoplasias de la Tiroides , Adenocarcinoma Folicular/patología , Humanos , Japón , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/patología , Neoplasias de la Tiroides/cirugía
10.
Oncol Lett ; 22(1): 533, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34084214

RESUMEN

Cyclooxygenase-2 (COX-2) is one of the two isoforms of COX, an enzyme that catalyzes the conversion of arachidonic acid to prostaglandins. COX-2 is associated with the progression in various types of cancer, and its expression has been associated with a poor prognosis in head and neck squamous cell carcinoma (HNSCC). Furthermore, COX-2 expression has been associated with resistance to anticancer drugs. However, the precise mechanism of COX-2 for chemoresistance in HNSCC has not been fully elucidated. The present study aimed to investigate the effect of COX-2 on cancer stem cell (CSC) property and to reveal its effect on chemoresistance using in vitro and clinicopathological assays in HNSCC cells and tissues. The current study analyzed the immunohistochemical expression levels of COX-2 and clinicopathological factors using matched samples of pretreatment biopsy and surgical specimens from patients with hypopharyngeal carcinoma who underwent tumor resection with preoperative chemotherapy, including docetaxel. Additionally, the chemoresistance to docetaxel with or without a COX-2 inhibitor (celecoxib) was examined in HNSCC cell lines by MTS assays. To evaluate the association of COX-2 expression with stemness property, the expression levels of CSC-associated genes after exposure to celecoxib were assessed by reverse transcription-quantitative PCR. A sphere formation assay was also performed using ultra-low attachment dishes and microscopic imaging. The immunohistochemical analysis of biopsy specimens revealed a negative association between COX-2 expression in biopsy specimens and the pathological effect of induction chemotherapy in surgical specimens. The cell survival rate under exposure to docetaxel was decreased by the addition of celecoxib. COX-2 inhibition led to downregulation of CSC-associated gene expression and sphere formation. The present findings suggested that COX-2 expression may be associated with chemoresistance through the cancer stemness property, and inhibition of COX-2 may enhance chemo-sensitivity in HNSCC. Therefore, COX-2 may be an attractive target for the treatment of HNSCC.

11.
Surg Case Rep ; 7(1): 119, 2021 May 12.
Artículo en Inglés | MEDLINE | ID: mdl-33978837

RESUMEN

BACKGROUND: Non-functioning parathyroid carcinoma is an extremely rare malignancy among endocrine tumors. We report a case in which non-functional oxyphilic parathyroid carcinoma was diagnosed from clinical symptoms and pathological diagnosis. CASE PRESENTATION: The patient was a 42-year-old man with no medical or family history of note. He had presented to a local hospital with a neck mass 2 months earlier. Medullary thyroid carcinoma was diagnosed and he was referred to our department. A 3.5-cm mass was observed in the left thyroid lobe. Laboratory data for thyroid functions, thyroglobulin, anti-thyroglobulin antibodies, anti-thyroid peroxidase antibodies, serum calcium, and parathyroid hormone (PTH) were all within normal ranges. Ultrasonography revealed a 40-mm irregular, hypoechoic mass throughout the left thyroid lobe. Follicular thyroid tumor was suspected from fine-needle aspiration cytology. Left lobectomy was performed. Pathological features revealed a thick fibrous capsule around the tumor, and a thick fibrous band was observed inside the tumor. Both capsular invasions and vascular invasions were observed. Tumor cells were eosinophilic and displayed solid growth. Immunohistochemically, tumor cells were negative for thyroid transcription factor-1, negative for thyroglobulin, negative for chromogranin A (positive for normal parathyroid tissue within the nodule), positive for PTH, and positive for parafibromin. Ki-67 labeling index was 10%. Based on these findings, non-functional oxyphilic parathyroid carcinoma was diagnosed. One and a half years postoperatively, calcium and PTH were within normal ranges, and he has shown no evidence of recurrence or metastasis. CONCLUSIONS: Non-functioning oxyphilic parathyroid carcinoma is an extremely rare malignancy, and definitive diagnosis is difficult to obtain preoperatively. Few reports have been made worldwide, and information on the long-term prognosis is scarce. Long-term surveillance by imaging is mandatory, since no indices that can be used as a marker for postoperative recurrence and metastasis have been identified.

12.
Clin Exp Dent Res ; 7(6): 1175-1182, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34008925

RESUMEN

OBJECTIVE: Primary osteosarcoma of the jaw bones is very rare, and histological features of gnathic osteosarcoma remain obscure. The purpose of this study was to describe the clinicopathological features of gnathic osteosarcoma. MATERIALS AND METHODS: Seven cases of gnathic osteosarcoma from Japan diagnosed during the period between 2000 and 2016 were examined retrospectively. The histology of the surgical pathology materials was reviewed by two pathologists. Clinical information was obtained from the hospital's information system. RESULTS: Of the seven cases, two patients had secondary osteosarcomas. As for the five cases of primary osteosarcoma, their ages ranged from 26 to 58 years (mean: 36.2, median: 28). Histologically, three cases were fibrotic tumors composed of spindle-shaped cells with mild to moderate nuclear atypia and the collagenous stroma accompanied by woven bones or mature lamellar-like bones. Two cases had cartilage formation. MDM2 and CDK4 expression was observed in two out of three cases on immunostaining. The histopathology of these three cases was regarded as the counterpart of low-grade osteosarcomas, namely, parosteal osteosarcoma and low-grade central osteosarcoma, arising in long bones. CONCLUSIONS: The surprisingly high incidence (60%, 3/5 cases) of low-grade osteosarcoma explains the reason why gnathic osteosarcomas present a more favorable prognosis than osteosarcomas arising in long bones. Furthermore, it provides insight into the tumorigenesis mechanism of low-grade osteosarcomas arising in the jaw and other sites.


Asunto(s)
Neoplasias Óseas , Osteosarcoma , Adulto , Neoplasias Óseas/diagnóstico , Neoplasias Óseas/metabolismo , Neoplasias Óseas/patología , Humanos , Persona de Mediana Edad , Osteosarcoma/metabolismo , Osteosarcoma/patología , Osteosarcoma/cirugía , Pronóstico , Proteínas Proto-Oncogénicas c-mdm2/metabolismo , Estudios Retrospectivos
13.
Endosc Int Open ; 9(4): E552-E561, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33860072

RESUMEN

Background and study aims Recent advances in endoscopic equipment and diagnostic techniques have improved the detection of dysplasia in the inflamed mucosa of patients with ulcerative colitis (UC). However, it remains difficult to endoscopically identify flat-type dysplasia which has been formerly recognized as invisible dysplasia. Patients and methods In this retrospective, single-center study, we endoscopically identified 10 cases of flat-type-predominant dysplasia by targeted biopsy among 38 intramucosal dysplasia lesions from patients with UC who underwent surgical or endoscopic resection from 2007 to 2017. Their endoscopic and histological features were examined, including color changes, intramucosal vascular density/size, and vascular endothelial growth factor (VEGF) expression. Results All flat-type-predominant dysplasias were endoscopically recognized as demarcated red-colored areas and histologically diagnosed as low- (LGDs) or high-grade dysplasias (HGDs). Immunohistochemical examination using resected specimens revealed that flat-type dysplasia was characterized by significantly increased CD34-positive vascular density (LGDs, 1.7-fold, P < 0.01; HGDs, 2.2-fold, P  < 0.01) and size (LGDs, 1.03-fold, P  < 0.01; HGDs, 1.11-fold, P  < 0.01) in the mucosa, compared to adjacent non-neoplastic areas. Increased numbers of vessels were observed at the base of the mucosa in LGDs, whereas HGDs contained increased/enlarged vessels throughout the mucosa. Moreover, VEGF expression was elevated in all dysplastic epithelia. Conclusions Demarcated red-colored areas, histologically characterized by an increased vascular density/size in the mucosa, are an endoscopic sign of formerly invisible flat-type dysplasia in patients with UC and should be considered for targeted biopsy. Prospective studies focusing on the mucosal color change for their early detection would be desirable in the future.

14.
Brain Tumor Pathol ; 38(3): 263-270, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33783654

RESUMEN

Lymphomatoid granulomatosis (LYG) is a rare lymphoproliferative disease with angiocentric and angiodestructive infiltrates, and by definition, Epstein-Barr virus (EBV)-associated B-cell malignancy. It most frequently involves the lung, and in some cases, the lesions are confined to the central nervous system (isolated CNS-LYG). However, it remains a controversial disease in terms of pathophysiology, especially in those confined to the CNS. We report the case of a 37-year-old man with CNS lesion pathologically characterized by angiocentric, T-cell-rich lymphoid cell infiltrates that resembled CNS-LYG. The lesion was clinically aggressive with subacute onset and irregular ring-like enhancement on MRI. The resected specimen showed no cytological atypia, EBV-infected cells, or monoclonality for IgH and TCR gene rearrangements. Considering the possibility of latent malignancy, the patient was successfully treated with corticosteroid and chemoradiotherapy with high-dose methotrexate. The present case and the literature suggest that EBV-negative CNS lesions with angiocentric lymphoid infiltrates are probably heterogeneous in their pathogenesis, including those that could fit into the so-called CNS-LYG and those with T-cell predominance. The accumulation of similar cases is warranted for the classification and appropriate treatment of these lesions.


Asunto(s)
Enfermedades del Sistema Nervioso Central/patología , Sistema Nervioso Central/patología , Granulomatosis Linfomatoide/patología , Corticoesteroides/administración & dosificación , Adulto , Sistema Nervioso Central/diagnóstico por imagen , Enfermedades del Sistema Nervioso Central/diagnóstico por imagen , Enfermedades del Sistema Nervioso Central/etiología , Enfermedades del Sistema Nervioso Central/terapia , Quimioradioterapia , Terapia Combinada , Infecciones por Virus de Epstein-Barr/complicaciones , Humanos , Granulomatosis Linfomatoide/diagnóstico por imagen , Granulomatosis Linfomatoide/etiología , Granulomatosis Linfomatoide/terapia , Imagen por Resonancia Magnética , Masculino , Metotrexato/administración & dosificación , Linfocitos T/patología , Resultado del Tratamiento
15.
Endocrinol Metab (Seoul) ; 36(1): 123-133, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33677934

RESUMEN

BACKGROUND: Assessing nuclear features is diagnostically challenging in the aspect of thyroid pathology. The aim of this study was to determine whether pathologists could distinguish BRAF-like and RAS-like nuclear features morphologically and identify morphological features to differentiate thyroid tumors with RAS-like mutations from encapsulated papillary thyroid carcinoma (PTC) with predominant follicular growth and BRAFV600E mutation. METHODS: Representative whole slide images of 16 encapsulated thyroid tumors with predominant follicular growth were reviewed by 12 thyroid pathologists using a web browser-based image viewer. Total nuclear score was calculated from semi-quantitatively scored eight nuclear features. The molecular profile of RAS and BRAF genes was determined by Sanger sequencing. RESULTS: Total nuclear score ranging 0 to 24 could differentiate BRAF-like tumors from RAS-like tumors with a cut-off value of score 14. The interobserver agreement was the highest for the assessment of nuclear pseudoinclusions (NPIs) but the lowest for nuclear elongation and sickle-shaped nuclei. NPIs were found in tumors with BRAFV600E mutation, but not in tumors with RAS-like mutations. Total nuclear scores were significantly higher for tumors with BRAFV600E than for those with RAS-like mutations (P<0.001). CONCLUSION: Our results suggest that NPIs and high nuclear scores have diagnostic utility as rule-in markers for differentiating PTC with BRAFV600E mutation from benign or borderline follicular tumors with RAS-like mutations. Relaxation of rigid criteria for nuclear features resulted in an overdiagnosis of PTC. Immunostaining or molecular testing for BRAFV600E mutation is a useful adjunct for cases with high nuclear scores to identify true PTC.


Asunto(s)
Adenocarcinoma Folicular , Neoplasias de la Tiroides , Adenocarcinoma Folicular/diagnóstico , Adenocarcinoma Folicular/genética , Adenocarcinoma Folicular/patología , Humanos , Mutación , Proteínas Proto-Oncogénicas B-raf/genética , Cáncer Papilar Tiroideo/diagnóstico , Cáncer Papilar Tiroideo/genética , Cáncer Papilar Tiroideo/patología , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/genética , Neoplasias de la Tiroides/patología
16.
PLoS One ; 16(3): e0248531, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33705492

RESUMEN

Mapping of sentinel lymph nodes (SLNs) can enable less invasive surgery. However, mapping is challenging for cancers of difficult-to-access visceral organs, such as the gallbladder, because the standard method using radioisotopes (RIs) requires preoperative tracer injection. Indocyanine green (ICG) and superparamagnetic iron oxide (SPIO) have also been used as alternative tracers. In this study, we modified a previously reported magnetic probe for laparoscopic use and evaluated the feasibility of detecting SLNs of the gallbladder using a laparoscopic dual tracer method by injecting ICG and SPIO into five swine and one cancer-bearing swine. The laparoscopic probe identified SPIO nanoparticles in the nodes of 4/5 swine in situ, the magnetic field counts were 2.5-15.9 µT, and fluorescence was detected in SLNs in all five swine. ICG showed a visual lymph flow map, and SPIO more accurately identified each SLN with a measurable magnetic field quite similar to the RI. We then developed an advanced gallbladder cancer model with lymph node metastasis using recombination activating gene 2-knockout swine. We identified an SLN in the laparoscopic investigation, and the magnetic field count was 3.5 µT. The SLN was histologically determined to be one of the two metastatic lymph nodes. In conclusion, detecting the SLNs of gallbladder cancer in situ using a dual tracer laparoscopic technique with ICG and SPIO was feasible in a swine model.


Asunto(s)
Neoplasias de la Vesícula Biliar , Verde de Indocianina , Laparoscopía , Nanopartículas Magnéticas de Óxido de Hierro , Neoplasias Experimentales , Biopsia del Ganglio Linfático Centinela , Animales , Línea Celular Tumoral , Neoplasias de la Vesícula Biliar/diagnóstico , Neoplasias de la Vesícula Biliar/patología , Neoplasias de la Vesícula Biliar/cirugía , Humanos , Verde de Indocianina/farmacocinética , Verde de Indocianina/farmacología , Metástasis Linfática , Neoplasias Experimentales/diagnóstico , Neoplasias Experimentales/patología , Neoplasias Experimentales/cirugía , Ganglio Linfático Centinela/patología , Ganglio Linfático Centinela/cirugía , Porcinos
17.
Int Cancer Conf J ; 10(1): 6-10, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33489693

RESUMEN

There has been a rapid advance in germline multigene panel testing by next-generation sequencing, and it is being widely used in clinical settings. A 56-year-old woman suspected of having Lynch syndrome was identified as a BRCA2 pathogenic variant carrier by multigene panel testing. The patient was diagnosed with endometrial cancer at the age of 39 years, and total laparoscopic hysterectomy and bilateral salpingectomy were performed at the age of 49 years; however, bilateral oophorectomy was not performed at that time. As she had a family history of colorectal cancer and a history of endometrial cancer, Lynch syndrome was suspected. However, germline multigene panel testing revealed a pathogenic BRCA2 variant rather than pathogenic variants in mismatch repair genes. In this case, with conventional genetic risk assessment, we were unable to determine whether the patient had a high risk of hereditary breast and ovarian cancer; thus, germline multigene panel testing may provide valuable information to improve disease management strategies for patients in clinical settings. Particularly, germline multigene panel testing may be useful for detecting hereditary tumor syndromes if a patient does not present with a typical family history of cancer.

18.
BMC Surg ; 21(1): 13, 2021 Jan 06.
Artículo en Inglés | MEDLINE | ID: mdl-33407379

RESUMEN

BACKGROUND: Pheochromocytoma is a catecholamine-secreting tumour that leads to various symptoms. Haemoptysis is rarely caused by a pheochromocytoma occurring outside the bronchus or thoracic cavity. Here, we report the case of an extra-adrenal abdominal pheochromocytoma initially manifesting as haemoptysis/dyspnoea during exercise without classic symptoms. CASE PRESENTATION: A 22-year-old man with a history of severe dyspnoea experienced difficulties in breathing following a marathon owing to haemoptysis that required ventilator management 1 year before presentation. His father had undergone surgery for ectopic pheochromocytoma. Computed tomography (CT) revealed a 30-mm tumour between the inferior vena cava and pancreatic head while urinalysis revealed abnormally high noradrenaline levels. He was clinically diagnosed with an extra-adrenal abdominal ectopic pheochromocytoma. After controlling blood pressure, surgery was performed, and the tumour was successfully removed. Histopathology revealed chromogranin A (+), synaptophysin (+), S100 protein (+), and MIB-1 index of 1%. Therefore, the patient was finally diagnosed with extra-adrenal abdominal ectopic pheochromocytoma. CONCLUSIONS: Haemoptysis is a rare manifestation of abdominal ectopic paraganglioma. Prompt consideration of pheochromocytoma/paraganglioma when patients experience haemoptysis without any other possible aetiology may prevent inappropriate diagnosis and treatment and ultimately fatalities.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales , Hemoptisis , Feocromocitoma , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Neoplasias de las Glándulas Suprarrenales/cirugía , Adulto , Hemoptisis/etiología , Humanos , Masculino , Recurrencia Local de Neoplasia , Feocromocitoma/diagnóstico , Feocromocitoma/cirugía , Tomografía Computarizada por Rayos X , Adulto Joven
19.
Hum Pathol ; 110: 73-82, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-32687943

RESUMEN

Standardized pathologic reporting for cancers improves patient care and prognostic determination. However, access in many countries is limited. To address this issue, the International Collaboration on Cancer Reporting (ICCR), a not-for-profit organization, has the mission to develop and disseminate standardized data sets for global use. Within endocrine organs, the parathyroid gland has rarely been included in formal pathologic data sets. Utilizing an expert international panel of eleven members, an evidence-based data set was developed for parathyroid carcinoma and atypical parathyroid neoplasms. This data set consists of sixteen core (required) elements viewed as essential for documentation of these conditions. Characterizing parathyroid carcinomas and atypical neoplasms begins with correlative clinical information, the operative procedure, specimens submitted, and site of the disease. The pathologic features essential to document include parathyroid weight, size, classification, and, when a carcinoma, the tumor grade. Histologic grade of parathyroid carcinoma incorporates other core elements including necrosis, mitotic count, perineural invasion, and lymphovascular invasion. Documenting the extent of disease locally into adjacent organs, regionally, and distally is critical for staging. Pathologic staging is now included as part of the American Joint Committee on Cancer 8th edition and is included in this data set. Ancillary studies should be recorded when performed as noncore elements. Standardized pathologic data sets for endocrine organs including the parathyroid gland are now available through the ICCR website. These essential resources enhance international standardization for documenting these rare tumors for both patient care and future guidelines.


Asunto(s)
Conjuntos de Datos como Asunto , Neoplasias de las Paratiroides/patología , Patología Clínica/normas , Humanos , Estadificación de Neoplasias/normas
20.
Laryngoscope ; 131(3): E864-E869, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-32673437

RESUMEN

OBJECTIVE: Previous studies have evaluated various markers as prognostic predictors in patients with many types of cancers. However, the influence of such factors on the outcomes of patients with parotid gland carcinoma (PGC) is unknown. This study investigated the roles of alternative markers in the prognoses of patients with PGC. METHODS: Overall, 101 patients who underwent curative treatment for PGC were retrospectively evaluated, and their 5-year overall and disease-free survival rates were calculated. The prognostic values of clinical and pathologic factors were determined. RESULTS: The 5-year overall and disease-free survival rates were 73.1% and 62.8%, respectively. Multivariate analysis revealed that a low lymphocyte-to-monocyte ratio (LMR), high T classification, high N classification, and perineural invasion were independent predictors of poor prognosis. CONCLUSIONS: Thus, we identified LMR as an independent prognostic factor for patients with PGC. Patients with low LMRs who are amenable to treatment may require adjuvant treatment to improve their prognoses. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:E864-E869, 2021.


Asunto(s)
Carcinoma/sangre , Carcinoma/mortalidad , Recuento de Linfocitos , Monocitos , Neoplasias de la Parótida/sangre , Neoplasias de la Parótida/mortalidad , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Invasividad Neoplásica , Estadificación de Neoplasias , Neoplasias de la Parótida/patología , Valor Predictivo de las Pruebas , Pronóstico , Estudios Retrospectivos , Factores de Riesgo , Tasa de Supervivencia , Adulto Joven
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