ABSTRACT
The article Liquid biopsy in oncology.
ABSTRACT
The proportion of cancer patients with tumours that harbour a potentially targetable genomic alteration is growing considerably. The diagnosis of these genomic alterations can lead to tailored treatment at the onset of disease or on progression and to obtaining additional predictive information on immunotherapy efficacy. However, in up to 25% of cases, the initial tissue biopsy is inadequate for precision oncology and, in many cases, tumour genomic profiling at progression is not possible due to technical limitations of obtaining new tumour tissue specimens. Efficient diagnostic alternatives are therefore required for molecular stratification, which includes liquid biopsy. This technique enables the evaluation of the tumour genomic profile dynamically and captures intra-patient genomic heterogeneity as well. To date, there are several diagnostic techniques available for use in liquid biopsy, each one of them with different precision and performance levels. The objective of this consensus statement of the Spanish Society of Pathology and the Spanish Society of Medical Oncology is to evaluate the viability and effectiveness of the different methodological approaches in liquid biopsy in cancer patients and the potential application of this method to current clinical practice. The experts contributing to this consensus statement agree that, according to current evidence, liquid biopsy is an acceptable alternative to tumour tissue biopsy for the study of biomarkers in various clinical settings. It is therefore important to standardise pre-analytical and analytical procedures, to ensure reproducibility and generate structured and accessible clinical reports. It is essential to appoint multidisciplinary tumour molecular boards to oversee these processes and to enable the most suitable therapeutic decisions for each patient according to the genomic profile.
Subject(s)
Liquid Biopsy/standards , Medical Oncology/standards , Neoplasms/pathology , Biomarkers, Tumor/genetics , Biomarkers, Tumor/metabolism , Consensus , Genomics , Humans , Liquid Biopsy/methods , Medical Oncology/organization & administration , Neoplasms/genetics , Precision Medicine , Reproducibility of Results , SpainABSTRACT
Nerve compression syndromes caused by non-neural tumours or tumour-like lesions are rare. We retrospectively reviewed 541 consecutive patients operated on by the same surgeon to study nerve compression syndromes in the forearm and hand. There were 414 due to nerve compression and 127 caused by tumours. Twenty-two patients showed compression neuropathy associated with 17 tumours and six tumour-like lesions, with 13 different pathological types. The most common types were fatty and vascular tumours. Twenty-one tumours were extraneural and one was intraneural. The median nerve was affected in nine cases, the ulnar nerve or the dorsal sensory branch of the ulnar nerve in five cases, the posterior interosseous nerve or the superficial radial branch in four cases and the common digital nerves in two cases. There was a concomitant involvement of the median and ulnar nerves in two other patients. Clinically, there were eight different compression neuropathies, of which the most frequent was the carpal tunnel syndrome. The postoperative histology was consistent with preoperative magnetic resonance imaging findings in the vascular and fatty tumours. Pain disappeared completely in 15 out of 16 patients with preoperative pain. All patients had preoperative paraesthesia, which persisted after tumour excision in three patients: attenuated in two patients and unchanged in one. In three patients, we did not observe any change in paresis or amyotrophy. The mean postoperative follow-up was 31 months, without tumour recurrence. The quick Disabilities of the Arm, Shoulder and Hand (DASH) score went from 49.9 points preoperatively to 10.2 points after surgery.
Subject(s)
Decompression, Surgical/methods , Neoplasms/epidemiology , Neoplasms/pathology , Nerve Compression Syndromes/epidemiology , Adult , Age Distribution , Aged , Aged, 80 and over , Biopsy, Needle , Carpal Tunnel Syndrome/diagnosis , Carpal Tunnel Syndrome/epidemiology , Carpal Tunnel Syndrome/surgery , Cohort Studies , Female , Humans , Immunohistochemistry , Incidence , Magnetic Resonance Imaging/methods , Male , Middle Aged , Nerve Compression Syndromes/diagnosis , Nerve Compression Syndromes/surgery , Prognosis , Retrospective Studies , Risk Assessment , Severity of Illness Index , Sex Distribution , Tomography, X-Ray Computed/methods , Treatment Outcome , Ulnar Nerve Compression Syndromes/diagnosis , Ulnar Nerve Compression Syndromes/epidemiology , Ulnar Nerve Compression Syndromes/surgery , Young AdultABSTRACT
BACKGROUND/AIMS: An early, simple, and reliable marker for acute pancreatic allograft rejection is not available. Inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) is an interleukin-6-dependent acute-phase positive protein that can act as an anti-inflammatory protein. We studied the response of the ITIH4 in pigs undergoing pancreas allotransplantation (PT) and evaluated this protein as a biomarker for acute graft rejection. METHODS: PT with enteric drainage of the exocrine secretion and systemic venous drainage was performed on 12 Landrace pigs. No immunosuppression was administered. Serum concentrations of glucose, amylase, lipase, insulin, C-peptide, and ITIH4 were determined daily. RESULTS: The response of ITIH4 to PT was early, intense, and prolonged, with 2 peaks in serum concentration. The first peak, which started on day 1 and reached maximum (around 6 mg/dL) on day 3, was attributed to the systemic acute phase response to surgical stress. The second peak, which exceeded the first peak and reached maximum (>8 mg/dL) on day 6, began when the recipients were still normoglycemic, and preceded onset of the diabetic state caused by acute graft rejection by an average of 4 days. CONCLUSION: Serum ITIH4 could help to predict subclinical acute graft rejection after PT in pigs.
Subject(s)
Alpha-Globulins/metabolism , Biomarkers/blood , Graft Rejection/blood , Pancreas Transplantation , Animals , Swine , Transplantation, HomologousABSTRACT
Se describe el caso de una paciente con una masa tumoral benigna congénita, que fue detectada tras un cuadro febril agudo. La masa, de 7 cm de diámetro, estaba localizada en la región pectoral derecha y fue diagnosticada mediante resonancia magnética. Tras su extirpación, se observaba una masa quística de paredes gruesas y cubierta de tejido graso. El estudio anatomopatológico constató la existencia de quistes con contenido linfático, lo que confirmaba que se trataba de un linfangioma quístico (AU)
We report the case of a patient with a congenital benign tumor, which was incidentally discovered after acute fever. The tumor had a diameter of 7 centimetres, located in the right pectoral region and was diagnosed by MRI. The cyst was totally excised. The lesion consisted of a thick-wall cystic mass covered with fatty tissue. Histopathological examination revealed lymphatic cysts, which lead to the diagnosis of cystic lymphangioma (AU)
Subject(s)
Humans , Female , Child , Lymphangioma, Cystic/diagnosis , Thoracic Neoplasms/diagnosis , Clavicle/injuries , Shoulder Fractures/complications , Diagnosis, DifferentialABSTRACT
Anaplastic large cell lymphoma (ALCL) was first described by Stein et al. in 1985, at that time neoplastic cells were labeled by the monoclonal antibody CD30. ALCL was included as a differentiate entity in the reviewed Kiel and REAL classification. ALCL carries the t (2; 5) (p23; q35) translocation; the absence of ALK kinase from normal lymphoid cells indicates that immunohistochemical expression of ALK is specific for the (2; 5) translocation. This disease is characterized by a diffuse proliferation of large anaplastic cells with kidney-shaped/horse-shoe nuclei. A distinguishing feature is a perinuclear eosinophilic region that represents a prominent Golgi apparatus. These cells are named hallmark-cells being almost pathognomonic. Immunohistochemically the most important features are that tumor cells consistently express CD30 and EMA on the cell membrane and in the Golgi region, while ALK immunostaining is usually both, cytoplasmic and nuclear. To our knowledge only two cases of primary ALCL of the testis have been reported. Hereby we present a case of a typical ALCL expressing ALK and CD30, which presented with subcutaneous nodules and bilateral testicular mass, without systemic involvement.
Subject(s)
Lymphoma, Large-Cell, Anaplastic/pathology , Testicular Neoplasms/pathology , Adult , Humans , MaleABSTRACT
Kikuchi-Fujimoto's disease (KFD), Histiocytic Necrotizing lymphadenitis, is a rare self-limiting condition characterized by lymphadenopathy, fever and neutropenia. The aetiology of KFD is controversial, and its diagnosis is confirmed histologically. Although KFD has rarely been reported associated to Systemic lupus erythemotosus (SLE) should be ruled out given its different prognosis and management. We present the clinical, histological and evolution the two cases of patients with Kikuchi's disease; one case had evolution classic and the other case were associated with SLE.
Subject(s)
Histiocytic Necrotizing Lymphadenitis/complications , Lupus Erythematosus, Systemic/complications , Adult , Female , Histiocytic Necrotizing Lymphadenitis/diagnosis , HumansABSTRACT
A case of metastatic Merkel-cell carcinoma to lymph nodes on the left side of the neck nad left parotid is described. Neuroendocrine cutaneous carcinoma, also called Merkel cell carcinoma (MCC), is an uncommon primary skin tumor most often seen in elderly. Literature is reviewed and comment about more important features of these lesions, like differential diagnosis, prognosis and treatment.
Subject(s)
Carcinoma, Merkel Cell/secondary , Carcinoma, Neuroendocrine/pathology , Carcinoma/secondary , Parotid Neoplasms/pathology , Skin Neoplasms/pathology , Aged , Carcinoma/radiotherapy , Carcinoma/surgery , Carcinoma, Merkel Cell/radiotherapy , Carcinoma, Merkel Cell/surgery , Carcinoma, Neuroendocrine/radiotherapy , Carcinoma, Neuroendocrine/surgery , Diagnosis, Differential , Female , Humans , Parotid Neoplasms/radiotherapy , Parotid Neoplasms/surgery , Skin Neoplasms/radiotherapy , Skin Neoplasms/surgeryABSTRACT
La enfermedad de Kikuchi-Fujimoto (EKF) o linfadenitis necrotizante histiocítica es una patología autolimitada que se caracteriza por linfadenopatías, fiebre y neutropenia entre otros síntomas. La etiología de la EKF es controvertida y será el estudio histológico el que proporcione el diagnóstico de confirmación. Aunque la EKF no es muy frecuente, se han publicado varios casos en los cuales se asocia a Lupus Eritematoso Sistémico (LES) lo cual se ha de tener presente, puesto que modifica tanto el pronostico como el manejo terapéutico de estos pacientes.Se presentan dos casos de enfermedad de Kikuchi: el primero de los casos presente una evolución clásica de la enfermedad, mientras que el segundo caso asoció un LES (AU)
Subject(s)
Adult , Female , Humans , Histiocytic Necrotizing Lymphadenitis , Lupus Erythematosus, SystemicABSTRACT
Presentamos un caso de carcinoma neuroendocrino cutáneo con metástasis cervicales y en glándula parótida izquierda. El carcinoma neuroendocrino cutáneo, también llamado carcinoma de células de Merkel (MCC), es un raro tumor de la piel que aparece en edades avanzadas de la vida. Una vez revisada la literatura, discutimos sobre las características más importantes de estas lesiones, como sonel diagnóstico diferencial, pronóstico y tratamiento (AU)
A case of metastatic Merkel-cell carcinoma to lymph nodes on the left side of the neck nad left parotid is described. Neuroendocrine cutaneous carcinoma, also called Merkel cell carcinoma (MCC), is an uncommon primary skin tumor most often seen in elderly. Literature is reviewed and comment about more important features of these lesions, like differential diagnosis, prognosis and treatment (AU)
Subject(s)
Aged , Female , Humans , Carcinoma, Neuroendocrine/pathology , Carcinoma/secondary , Skin Neoplasms/pathology , Carcinoma, Merkel Cell/secondary , Parotid Neoplasms/pathology , Diagnosis, DifferentialABSTRACT
Chronic sclerosing mediastinitis (CSM) is a rare disease whose etiology varies and which usually develops through mediastinal compression syndromes, generally due to occlusion of the superior vena cava. We report a case of CSM diagnosed after a chance finding of unilateral diaphragm paralysis, a circumstance not previously reported in the literature. We review the clinical, radiological and histological features of CSM.
Subject(s)
Mediastinitis/complications , Respiratory Paralysis/etiology , Chronic Disease , Female , Humans , Middle AgedABSTRACT
Introducción: Se presenta un caso de tumor de partes blandas de patrón epitelioide, con rasgos clínicos, histológicos e inmunohistoquímicos acordes con la recientemente descrita "variante proximal" de sarcoma epitelioide. Material y métodos: Un varón de 28 años debuta con un tumor profundo localizado en la región perineal. Resultados: Microscópicamente, mostró hábito epitelioide, con marcada atipia citológica y frecuentes rasgos rabdoides, siendo el patrón de inmunoreactividad superponible al del sarcoma epitelioideclásico. Conclusiones: Ante un tumor con rasgos intermedios entre un sarcoma epitelioide clásico, un tumor rabdoide y un carcinoma indiferenciado, hay que pensar en la variante proximal del sarcoma epitelioide (AU)
Subject(s)
Adult , Male , Humans , Sarcoma/diagnosis , Sarcoma/pathology , Immunohistochemistry/methods , Perineum/pathology , Sarcoma, Clear Cell/diagnosis , Sarcoma, Clear Cell/pathology , Retroperitoneal Neoplasms/complications , Retroperitoneal Neoplasms/diagnosis , Retroperitoneal Neoplasms/epidemiology , Retroperitoneal Neoplasms/pathology , Sarcoma , Sarcoma/ultrastructureABSTRACT
La mediastinitis esclerosante crónica es una enfermedad de escasa frecuencia y de etiología variada, que suele cursar con síndromes de compresión mediastínica, generalmente por oclusión de la vena cava superior. Presentamos un caso de mediastinitis esclerosante crónica diagnosticado a partir del hallazgo radiológico casual de una parálisis diafragmática unilateral, hecho no referenciado previamente en la bibliografía. Se actualizan sus rasgos clínicos, radiológicos e histológicos (AU)
Subject(s)
Middle Aged , Female , Humans , Respiratory Paralysis , Chronic Disease , MediastinitisSubject(s)
Lymphoma/pathology , Thyroid Gland/pathology , Thyroid Neoplasms/pathology , Adult , Biopsy, Needle , Female , HumansABSTRACT
OBJECTIVE: To report the results obtained with the application of alpha-IFN for the treatment of a small group of patients diagnosed of systemic mastocytosis (SM) in the setting of a general hospital. PATIENTS AND METHODS: Six patients out of a group of 14 with the diagnosis of MS were prospectively selected from January 1991 to December 1996. Two patients had aggressive variant with lymph node involvement and eosinophilia and the other four had severe and repeated crises through release of mediators not controlled under symptomatic therapy. All patients received alpha-2b-IFN with gradual doses until a mean dose of 9 MU/week was obtained, associated with anti-H1 and anti-H2 antithistaminic agents and ketotiphen. Monthly clinical and analytical studies were performed until stabilization of the clinical picture and histamine metabolite measurements in urine every 6 months and histologic evolution of bone marrow every 12 months. RESULTS: Mean age at diagnosis was 41 years (range: 26-28), M/F ratio 3/3, mean evolution time 50.5 months and mean time under therapy with alpha-IFN 15.6 months (range: 3-26). Six months after therapy was initiated a decrease in the frequency and severity of crises through release of mediators and a slight improvement in cutaneous lesions, resolution of liver enlargement and ascites were observed. Treatment tolerance was quite acceptable and dose reduction was required in only two cases. Bone marrow assessment at one year showed a similar involvement, with decrease in the number of paratrabecullar nodules. CONCLUSIONS: The efficacy of alpha-2b-IFN therapy in SM is not clearly established, although the results obtained in this study seem encouraging. To obtain valid conclusions, a larger number of patients with similar characteristics and a longer follow-up with uniform assessment criteria are required.
Subject(s)
Interferon-alpha/therapeutic use , Mastocytosis/drug therapy , Adult , Aged , Female , Humans , Male , Mastocytosis/complications , Mastocytosis/pathology , Middle AgedABSTRACT
Benign rheumatoid nodules are subcutaneous nodules morphologically and histologically identical to the ones appearing in patients with rheumatoid arthritis. They usually happen in healthy people without neither clinical nor serologic manifestations of any rheumatic illness. These nodules are more usual in children and they are considered exceptional beyond the age of eighteen. In the literature, only two hundred cases in children and twenty five cases in adults have been properly documented, with histological confirmation. We report four new cases of benign rheumatoid nodules histologically proved, two children and two adults, and we confirm the optimistic prognosis of these patients.
Subject(s)
Rheumatoid Nodule , Adult , Biopsy , Child, Preschool , Female , Humans , Male , Prognosis , Rheumatoid Nodule/diagnosis , Rheumatoid Nodule/pathologySubject(s)
Lymphadenitis/classification , Adolescent , Adult , Aged , Child , Diagnosis, Differential , Female , Histiocytes/pathology , Humans , Lymphadenitis/diagnosis , Lymphadenitis/pathology , Lymphoma/diagnosis , Male , Middle Aged , Necrosis , Syndrome , T-Lymphocytes/pathologyABSTRACT
Coeliac disease is the most frequent malabsortive syndrome in daily practice. However, its true prevalence is not exactly known. The symptoms vary from patient to patient, ranging from the classic presentation with diarrhea, weight loss and fatigue to oligosymptomatic forms, being the latter more common in adults. We report two patients in which urinary and skin spontaneous hemorrhage were the only symptoms, and led to the diagnosis. We insist on the importance of considering the diagnosis of coeliac disease in patients with this kind of clinical manifestations. The early diagnosis will allow us to reduce both the morbidity and mortality in coeliac patients.
Subject(s)
Celiac Disease/diagnosis , Hemorrhagic Disorders/etiology , Adult , Celiac Disease/complications , Female , Humans , MaleABSTRACT
Sinus histiocytosis with massive lymphadenopathy (SHML) is a rare entity characterized by the proliferation of cells belonging to the macrophage-histiocyte family, but whose exact origin is unknown. A case of SHML occurring in a 62-yr-old female is described in which the diagnosis is initially suggested by fine-needle aspiration (FNA) of a cervical node. The smears show a background of lymphocytes and plasma cells and large histiocytes with well-preserved lymphocytes in their cytoplasm (emperipolesis or lymphophagocytosis). Both nodal and extranodal (nasal mass) involvement are confirmed by surgical biopsy. The immunohistochemistry suggests that SHML cells are functionally activated macrophages. Eight months after diagnosis, the patient is clinically well, with partial improvement of lymphadenopathy.