Tumores renales múltiples y hereditarios. Revisión por y para radiólogos / Multiple and hereditary renal tumors: A review for radiologists

El 80% de los carcinomas renales (CR) se diagnostican incidentalmente por imagen. Se aceptan un 2-4% de multifocalidad «esporádica» y un 5-8% de síndromes hereditarios, probablemente con infraestimación. Multifocalidad, edad joven, historia familiar, datos sindrómicos y ciertas histologías hacen sospechar un síndrome hereditario. Debe estudiarse individualmente cada tumor y multidisciplinarmente al paciente, con estrategias terapéuticas conservadoras de nefronas y un abordaje diagnóstico radioprotector. Se revisan los datos relevantes para el radiólogo en los síndromes de von Hippel-Lindau, translocación de cromosoma-3, mutación de proteína-1 asociada a BRCA, CR asociado a déficit en succinato-deshidrogenasa, PTEN, CR papilar hereditario, cáncer papilar tiroideo-CR papilar, leiomiomatosis hereditaria y CR, Birt-Hogg-Dubé, complejo esclerosis tuberosa, Lynch, translocación Xp11.2/fusión TFE3, rasgo de células falciformes, mutación DICER1, hiperparatoridismo y tumor mandibular hereditario, así como los principales síndromes de predisposición al tumor de Wilms.(AU)

80% of renal carcinomas (RC) are diagnosed incidentally by imaging. 2-4% of “sporadic” multifocality and 5-8% of hereditary syndromes are accepted, probably with underestimation. Multifocality, young age, familiar history, syndromic data, and certain histologies lead to suspicion of hereditary syndrome. Each tumor must be studied individually, with a multidisciplinary evaluation of the patient. Nephron-sparing therapeutic strategies and a radioprotective diagnostic approach are recommended. Relevant data for the radiologist in major RC hereditary syndromes are presented: von-Hippel-Lindau, Chromosome-3 translocation, BRCA-associated protein-1 mutation, RC associated with succinate dehydrogenase deficiency, PTEN, hereditary papillary RC, Papillary thyroid cancer- Papillary RC, Hereditary leiomyomatosis and RC, Birt-Hogg-Dubé, Tuberous sclerosis complex, Lynch, Xp11.2 translocation/TFE3 fusion, Sickle cell trait, DICER1 mutation, Hereditary hyperparathyroidism and jaw tumor, as well as the main syndromes of Wilms tumor predisposition. The concept of “non-hereditary” familial RC and other malignant and benign entities that can present as multiple renal lesions are discussed.(AU)

Pancreatic metastasis of extra-skeletal mesenchymal chondrosarcoma diagnosed by ultrasound endoscopy-guided fine-needle aspiration

A 47-year-old man with a history of ESMC resection of the left chest wall seven years ago was admitted to our hospital due to mid-upper abdominal pain and jaundice for more than 10 days. Laboratory tests showed elevated direct bilirubin, alanine aminotransferase, gamma-glutamyltranspeptidase, and alkaline phosphatase. Computed tomography (CT) of the abdomen revealed soft tissue mass in the head and body of the pancreas with irregularly shaped calcifications, and an enhanced scan showed heterogeneous enhancement. Combined with the patient's past medical history, the possibility of pancreatic metastasis of ESMC was considered. After anti-inflammatory, hepatoprotective, and cholagogical treatment jaundice improved, and ultrasound endoscopy-guided fine-needle aspiration (EUS-FNA) was performed to clarify the nature of the mass, which showed a 4.1*4.2 cm mixed echogenic area with internal calcification in the head of the pancreas. Aspiration pathology showed proliferation of short spindle and round cells into nests, the immunohistochemistry stain showed CD99 (+); CD34, CD117, Dog-1, and S-100 were negative. Pancreatic metastasis of ESMC was diagnosed. Four months later, endoscopic biliary metal stent drainage (EMBD) was performed when the patient developed obstructive jaundice again due to lesion progression. PET/CT at a 2-year follow-up showed multiple high-density calcifications and abnormally increased FDG metabolism throughout the body. (AU)

Diagnóstico por imagen de las metástasis vertebrales / Imaging diagnosis of vertebral metastasis

La columna vertebral es la tercera ubicación más frecuente para la enfermedad metastásica, después del pulmón y el hígado. Por otra parte, los tumores óseos más recurrentes son las metástasis, siendo la columna su principal lugar de localización. En este trabajo se realiza una revisión de las diferentes técnicas de imagen disponibles, tanto radiológicas como de medicina nuclear, y de la apariencia morfológica de las metástasis de columna en cada una de ellas. La resonancia magnética (RM) es la mejor modalidad de imagen para la detección de metástasis en la columna. Es importante efectuar el diagnóstico diferencial entre fractura vertebral de causa osteoporótica y patológica. La compresión medular es una complicación grave de la enfermedad metastásica y su valoración mediante imagen a través de escalas objetivas es determinante para la estimación de la estabilidad de la columna y, por consiguiente, para establecer el tratamiento. Por último, se comentan brevemente las técnicas de intervencionismo percutáneo.(AU)

The spine is the third most frequent location for metastatic disease, after the lung and liver. On the other hand, the most frequent bone tumors are metastases and the spine is the main location. A review of the different imaging techniques available, both radiological and nuclear medicine, and the morphological appearance of spinal metastases in each of them is performed. Magnetic resonance imaging is the best imaging modality for detection of spinal metastases. It is important to make the differential diagnosis between vertebral fracture of osteoporotic and pathological cause. Spinal cord compression is a serious complication of metastatic disease and its assessment by imaging through objective scales is decisive for estimating spinal stability and therefore establishing treatment. Lastly, percutaneous intervention techniques are briefly discussed.(AU)

[Translated article] Imaging diagnosis of vertebral metastasis / Diagnóstico por imagen de las metástasis vertebrales

La columna vertebral es la tercera ubicación más frecuente para la enfermedad metastásica, después del pulmón y el hígado. Por otra parte, los tumores óseos más recurrentes son las metástasis, siendo la columna su principal lugar de localización. En este trabajo se realiza una revisión de las diferentes técnicas de imagen disponibles, tanto radiológicas como de medicina nuclear, y de la apariencia morfológica de las metástasis de columna en cada una de ellas. La resonancia magnética (RM) es la mejor modalidad de imagen para la detección de metástasis en la columna. Es importante efectuar el diagnóstico diferencial entre fractura vertebral de causa osteoporótica y patológica. La compresión medular es una complicación grave de la enfermedad metastásica y su valoración mediante imagen a través de escalas objetivas es determinante para la estimación de la estabilidad de la columna y, por consiguiente, para establecer el tratamiento. Por último, se comentan brevemente las técnicas de intervencionismo percutáneo.(AU)

The spine is the third most frequent location for metastatic disease, after the lung and liver. On the other hand, the most frequent bone tumors are metastases and the spine is the main location. A review of the different imaging techniques available, both radiological and nuclear medicine, and the morphological appearance of spinal metastases in each of them is performed. Magnetic resonance imaging is the best imaging modality for detection of spinal metastases. It is important to make the differential diagnosis between vertebral fracture of osteoporotic and pathological cause. Spinal cord compression is a serious complication of metastatic disease and its assessment by imaging through objective scales is decisive for estimating spinal stability and therefore establishing treatment. Lastly, percutaneous intervention techniques are briefly discussed.(AU)

[Artículo traducido] Manejo de metástasis sintomáticas de columna: un enfoque multidisciplinario basado en un diagrama de flujo / Management of symptomatic spine metastases: A multidisciplinary approach based flow-chart

Describimos un algoritmo para el manejo de las metástasis espinales en el que la importancia de los parámetros individuales varía dependiendo del momento en el que se contemplan.Cada paciente sigue su propio proceso secuencial «personal» que no necesariamente considera todos los parámetros cada vez, ya que algunos pueden ser irrelevantes a la hora de elegir el tipo de tratamiento para ese individuo. Por ejemplo, un paciente en mal estado general con una puntuación ASA alta generalmente no es candidato para la cirugía, independientemente de la naturaleza del tumor primario o del número de metástasis. Para este paciente, el elemento más importante sería la sensibilidad del tumor al tratamiento adyuvante. Del mismo modo, un paciente con lesión aguda y progresiva de la médula espinal se sometería a descompresión quirúrgica y estabilización sin considerar una intervención más agresiva.(AU)

We described an algorithm for the management of spinal metastases in which the importance of single parameters varies depending on when they are contemplated.Each patient follows his own «personal» sequential process which does not necessarily consider all the parameters each time as some may be irrelevant for the purpose of choosing the type of treatment for that single individual. For instance, a patient in general poor condition with a high ASA score is usually not a candidate for surgery, regardless of the primary tumor nature or the number of metastases. For this patient, the most important element would be the sensitivity of the tumor to adjuvant treatment. Similarly, a patient with acute and progressive spinal cord injury would undergo surgical decompression and stabilization without considering a more strenuous intervention.(AU)

Management of symptomatic spine metastases: A multidisciplinary approach based flow-chart / Manejo de metástasis sintomáticas de columna: un enfoque multidisciplinario basado en un diagrama de flujo

Describimos un algoritmo para el manejo de las metástasis espinales en el que la importancia de los parámetros individuales varía dependiendo del momento en el que se contemplan.Cada paciente sigue su propio proceso secuencial «personal» que no necesariamente considera todos los parámetros cada vez, ya que algunos pueden ser irrelevantes a la hora de elegir el tipo de tratamiento para ese individuo. Por ejemplo, un paciente en mal estado general con una puntuación ASA alta generalmente no es candidato para la cirugía, independientemente de la naturaleza del tumor primario o del número de metástasis. Para este paciente, el elemento más importante sería la sensibilidad del tumor al tratamiento adyuvante. Del mismo modo, un paciente con lesión aguda y progresiva de la médula espinal se sometería a descompresión quirúrgica y estabilización sin considerar una intervención más agresiva.(AU)

We described an algorithm for the management of spinal metastases in which the importance of single parameters varies depending on when they are contemplated.Each patient follows his own «personal» sequential process which does not necessarily consider all the parameters each time as some may be irrelevant for the purpose of choosing the type of treatment for that single individual. For instance, a patient in general poor condition with a high ASA score is usually not a candidate for surgery, regardless of the primary tumor nature or the number of metastases. For this patient, the most important element would be the sensitivity of the tumor to adjuvant treatment. Similarly, a patient with acute and progressive spinal cord injury would undergo surgical decompression and stabilization without considering a more strenuous intervention.(AU)

Noninvasive Verification of a Very Small Intraocular Prostate Carcinoma Metastasis by 68Ga-PSMA-11 PET/CT.

ABSTRACT: A male patient underwent 68Ga-PSMA-11 PET/CT for the evaluation of a suspected intraocular metastasis in the right eye. Although the choroidal thickening was very small (4 × 2 mm), and ophthalmoscopy as well as MRI were inconclusive, PET/CT imaging showed distinct PSMA expression in the suspected lesion, confirming prostate cancer metastasis. The ability of dedicated PSMA ligand PET/CT imaging to detect small metastases, even with 68Ga-labeled ligands, has been demonstrated. Therefore, the use of further invasive diagnostic procedures could be avoided. Thus, the possibility of detecting intraocular metastases of prostate cancer should be considered in routine PET/CT imaging.

Interobserver variation in clinical target volume (CTV) delineation for stereotactic radiotherapy to non-spinal bone metastases in prostate cancer: CT, MRI and PET/CT fusion.

BACKGROUND AND PURPOSE: The use of SBRT for the treatment of oligometastatic prostate cancer is increasing rapidly. While consensus guidelines are available for non-spinal bone metastases practice continues to vary widely. The aim of this study is to look at inter-observer variability in the contouring of prostate cancer non-spinal bone metastases with different imaging modalities. MATERIALS AND METHODS: 15 metastases from 13 patients treated at our centre were selected. 4 observers independently contoured clinical target volumes (CTV) on planning CT alone, planning CT with MRI fusion, planning CT with PET-CT fusion and planning CT with both MRI and PET-CT fusion combined. The mean inter-observer agreement on each modality was compared by measuring the delineated volume, generalized conformity index (CIgen), and the distance of the centre of mass (dCOM), calculated per metastasis and imaging modality. RESULTS: Mean CTV volume delineated on planning CT with MRI and PET-CT fusion combined was significantly larger compared to other imaging modalities (p = 0.0001). CIgen showed marked variation between modalities with the highest agreement between planning CT + PET-CT (mean CIgen 0.55, range 0.32-0.73) and planning CT + MRI + PET-CT (mean CIgen 0.59, range 0.34-0.73). dCOM showed small variations between imaging modalities but a significantly shorter distance found on planning CT + PET-CT when compared with planning CT + PET-CT + MRI combined (p = 0.03). CONCLUSIONS: Highest consistency in CTV delineation between observers was seen with planning CT + PET-CT and planning CT + PET-CT + MRI combined.

MR imaging phenotypes and features associated with pathogenic mutation to predict recurrence or metastasis in breast cancer.

OBJECTIVES: Distant metastasis remains the main cause of death in breast cancer. Breast cancer risk is strongly influenced by pathogenic mutation.This study was designed to develop a multiple-feature model using clinicopathological and imaging characteristics adding pathogenic mutations associated signs to predict recurrence or metastasis in breast cancers in high familial risk women. METHODS: Genetic testing for breast-related gene mutations was performed in 54 patients with breast cancers. Breast MRI findings were retrospectively evaluated in 64 tumors of the 54 patients. The relationship between pathogenic mutation, clinicopathological and radiologic features was examined. The disease recurrence or metastasis were estimated. Multiple logistic regression analyses were performed to identify independent factors of pathogenic mutation and disease recurrence or metastasis. Based on significant factors from the regression models, a multivariate logistic regression was adopted to establish two models for predicting disease recurrence or metastasis in breast cancer using R software. RESULTS: Of the 64 tumors in 54 patients, 17 tumors had pathogenic mutations and 47 tumors had no pathogenic mutations. The clinicopathogenic and imaging features associated with pathogenic mutation included six signs: biologic features (p = 0.000), nuclear grade (p = 0.045), breast density (p = 0.005), MRI lesion type (p = 0.000), internal enhancement pattern (p = 0.004), and spiculated margin (p = 0.049). Necrosis within the tumors was the only feature associated with increased disease recurrence or metastasis (p = 0.006). The developed modelIincluding clinico-pathologic and imaging factors showed good discrimination in predicting disease recurrence or metastasis. Comprehensive model II, which included parts of modelIand pathogenic mutations significantly associated signs, showed significantly more sensitivity and specificity for predicting disease recurrence or metastasis compared to Model I. CONCLUSIONS: The incorporation of pathogenic mutations associated imaging and clinicopathological parameters significantly improved the sensitivity and specificity in predicting disease recurrence or metastasis. The constructed multi-feature fusion model may guide the implementation of prophylactic treatment for breast cancers at high familial risk women.

Visually predicting microRNA-regulated tumor metastasis by intracellularly 3D counting of fluorescent spots based on in situ growth of DNA flares.

INTRODUCTION: MicroRNAs (miRNAs) have been revealed to be critical genetic regulators in various physiological processes and thus quantitative information on the expression level of critical miRNAs has important implications for the initiation and development of human diseases, including cancers. OBJECTIVES: We herein develop three-dimensionally (3D) counting of intracellular fluorescent spots for accurately evaluating microRNA-21 (miRNA-21) expression in individual HeLa cells based on stimuli-activated in situ growth of optical DNA flares, grid-patterned DNA-protein hybrids (GDPHs). METHODS: Target miRNA is sequence-specifically detected down to 10 pM owing to efficient signal amplification. Within living cells, GDPH flares are nuclease resistant and discrete objects with retarded mobility, enabling the screening of intracellular location and distribution of miRNAs and realizing in situ counting of target species with a high accuracy. RESULTS: The quantitative results of intracellular miRNAs by 3D fluorescence counts are consistent with qPCR gold standard assay, exhibiting the superiority over 2D counts. By screening the expression of intracellular miR-21 that can down-regulate the programmed cell death 4 (PDCD4) protein, the proliferation and migration of HeLa cells, including artificially-regulated ones, were well estimated, thus enabling the prediction of cancer metastasis in murine tumor models. CONCLUSION: The experiments in vitro, ex vivo and in vivo demonstrate that GDPH-based 3D fluorescence counts at the single cell level provide a valuable molecular tool for understanding biological function of miRNAs and especially for recognizing aggressive CTCs, offering a design blueprint for further expansion of DNA structural nanotechnology in predicting distant metastasis and prevention of tumor recurrence after primary resection.

Aplicación de modelos 3D en cirugía hepática / Implementation of three-dimensional printed models in hepatic surgery

RESUMEN La impresión de modelos tridimensionales (M3D) implica obtener una estructura sólida y formada a partir de un modelo digital. Para la reconstrucción 3D se utilizó tomografía computarizada contrastada, realizándose impresión de modelos sobre la base de las principales estructuras anatómicas hepáticas. Se utilizaron M3D en dos pacientes con indicación quirúrgica, una mujer con trombocitopenia familiar y metástasis hepática de adenocarcinoma rectal, sin respuesta a quimioterapia, y un hombre con hepatopatía infecciosa crónica y diagnóstico de carcinoma hepatocelular. La aplicación de M3D resultó de gran utilidad, pues permitió un mejor entendimiento de la relación espacial de las estructuras anatómicas en ambos casos. En nuestra experiencia, la aplicación de M3D fue muy útil para planificar la cirugía y dar una aproximación más certera de los reparos anatómicos. El modelo se obtuvo en 7 días y costó 380 dólares, un valor elevado para nuestro medio.

ABSTRACT Three-dimensional (3D) printing is the construction of a solid structure from a digital model. 3D reconstruction was performed using contrast-enhanced computed tomography scan, and 3D-printed models were built based on the main anatomic structures of the liver. 3D-printed models were used in two patients with indication of surgery; one woman with inherited thrombocytopenia and liver metastases from colorectal adenocarcinoma with no response to chemotherapy, and one man with chronic liver infection and hepatocellular carcinoma. The implementation of 3D printing technology was very useful, as it facilitated the understanding of the spatial relationships among the anatomical structures in both cases. In our experience, the use of 3D-printed models was very useful for preoperative planning and for understanding the anatomic landmarks. The model was built in 7 days, with a cost of 380 dollars which is elevated in our environment.

Diagnóstico tomográfico de angiosarcoma esplénico primario con metástasis ósea / Tomographic diagnosis of primary spleen angiosarcoma with bone metasteses

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The Value of Gastric Cancer Staging by Endoscopic Ultrasonography Features in the Diagnosis of Gastroenterology.

This research was aimed at exploring the application value of endoscopic ultrasonography (EUS) in the diagnosis of gastric cancer staging and the correlation between staging and clinical features of gastric cancer. A total of 72 patients with gastric cancer were selected and randomly divided into two groups. The patients in the pathological group underwent postoperative pathological examination, while those in the EUS group received preoperative EUS examination. The results showed that the staging accuracy of EUS was 73.33% for T1, 78.57% for T2, 27% for T3, and 100% for T4, compared with the pathological staging. The accuracy of N- and N+ was 42.5% and 82.3% in EUS, respectively, and the total accuracy was 55.7%. There was no considerable difference in the accuracy of T staging between early gastric cancer and advanced gastric cancer (P > 0.05), but there was a considerable difference in N staging (P < 0.05). Lymph node metastasis affected the accuracy of N staging (P < 0.05). The number and location of metastatic lymph nodes did not affect the judgment of metastatic lymph nodes (P > 0.05). In addition, the proportion of understaging and overstaging was greatly different among different lesion sizes and histological types of gastric cancer (P < 0.05). To sum up, the accuracy of EUS for T and N staging of gastric cancer needed to be improved. The location of gastric cancer lesions affected the accuracy of T staging, while the depth of invasion and lymph node metastasis affected the accuracy of N staging.

Detection of Diffuse Peritoneal and Omental Metastases From Prostate Cancer With 18F-PSMA-1007 PET/CT.

ABSTRACT: Diffuse peritoneal and omental infiltration of prostate cancer detected by 18F-PSMA-1007 PET/CT was rarely reported. We report a case of an 80-year-old man who was suspected of prostate carcinoma metastasis and underwent 18F-PSMA-1007 PET/CT for restaging the disease. PET/CT imaging presented intense tracer uptake in the prostate gland, multiple lymph nodes, and bones. Interestingly, we found extremely increased radioactive uptake of diffuse peritoneum and omentum on 18F-PSMA-1007 PET/CT images, which are very rare metastatic sites for prostate cancer.

Dosimetry of 177Lu-DOTATOC first circle treatment in patients with advanced metastatic neuroendocrine tumors: A pilot study in China.

First cycle dosimetry calculation of 177Lu-DOTATOC (single activity:1.59-3.49 GBq) was carried out in eight patients with advanced neuroendocrine tumors (NETs) who underwent whole-body planar (0.5, 24, 48, 72 h) and SPECT/CT scans (24 h). Focal uptake of 177Lu-DOTATOC was found in primary and metastatic tumors. Organs with the highest absorbed doses per injected activity were tumors (1.293 ± 0.862 mGy/MBq) and spleen (0.461 ± 0.408 mGy/MBq), while low absorbed doses were observed in kidneys (0.384 ± 0.112 mGy/MBq) and bone marrow (0.0297 ± 0.0123 mGy/MBq). 177Lu-DOTATOC is safe, well-tolerated and appropriate in Chinese NETs patients for PRRT.

Increased uptake of 68Ga-DOTA-FAPI-04 in bones and joints: metastases and beyond.

PURPOSE: To describe the uptake of 68Gallium-labelled fibroblast activation protein inhibitor (68Ga-FAPI) in the bones and joints for better understanding of the role of 68Ga-FAPI PET in benign and malignant bone lesions and joint diseases. METHODS: All 129 68Ga-FAPI PET/MR or PET/CT scans from June 1, 2020, to February 20, 2021, performed at our PET center were retrospectively reviewed. Foci of elevated 68Ga-FAPI uptake in the bones and joints were identified. All lesions were divided into malignant and benign diseases. Benign lesions included osteofibrous dysplasia, periodontitis, degenerative bone diseases, arthritis, and other inflammatory or trauma-related abnormalities. The number, locations, and SUVmax of all lesions were recorded and analyzed. The detectability of 68Ga-FAPI PET and 18F-FDG PET in patients who had two scans was also compared. RESULTS: Elevated uptake of 68Ga-FAPI in/around the bones and joints was found in 82 cases (63.57%). A total of 295 lesions were identified, including 94 (31.9%) malignant lesions (all were metastases) and 201 (68.1%) benign lesions. The benign lesions consisted of 13 osteofibrous dysplasia, 48 degenerative bone disease, 33 periodontitis, 56 arthritis, and 51 other inflammatory or trauma-related abnormalities. The spine, shoulder joint, alveolar ridge, and pelvis were the most commonly involved locations. Bone metastases were mainly distributed in the spine, pelvis, and ribs. Among benign diseases, periodontitis and arthritis are site-specific. The mean SUVmax of bone metastases was significantly higher than that of benign diseases (7.14 ± 4.33 vs. 3.57 ± 1.60, p < 0.001), but overlap existed. The differences in SUVmax among subgroups of benign diseases were statistically significant (p < 0.001), with much higher uptake in periodontitis (4.45 ± 1.17). 68Ga-FAPI PET identified much more lesions than 18F-FDG PET (104 vs. 48) with higher uptake value. CONCLUSION: 68Ga-FAPI accumulated in both bone metastases and some benign diseases of the bones and joints. Although the uptake of 68Ga-FAPI was often higher in bone metastases, this finding cannot be used to distinguish between benign and malignant lesions. 68Ga-FAPI PET also has the potential to locate and evaluate the extent of both malignant tumor and benign diseases in bones and joints. TRIAL REGISTRATION: NCT04554719, NCT04605939. Registered September 8, 2020 and October 25, 2020-retrospectively registered, http://clinicaltrails.gov/show/NCT04554719 ; http://clinicaltrails.gov/show/NCT04605939.