27196481 Visualization

A 66 Age - year Age - old Age man Sex was admitted Clinical_event into our Hospital Nonbiological_location in November Date 2008 Date with splenomegaly Sign_symptom , a high Lab_value red Diagnostic_procedure cell Diagnostic_procedure count Diagnostic_procedure , and subnormal Lab_value serum Diagnostic_procedure erythropoietin Diagnostic_procedure levels.
Cytogenetic Diagnostic_procedure analysis Diagnostic_procedure showed a normal Lab_value male Lab_value karyotype Diagnostic_procedure .
Molecular Diagnostic_procedure studies Diagnostic_procedure were negative for the BCR Sign_symptom - ABL1 Sign_symptom rearrangement Sign_symptom , but revealed the JAK2V617F Sign_symptom mutation Sign_symptom with an allele Lab_value burden Lab_value of Lab_value 44.9% Lab_value .
A diagnosis of PV Disease_disorder was made on the basis of a morphological Detailed_description bone Diagnostic_procedure marrow Diagnostic_procedure analysis Diagnostic_procedure according to the WHO Detailed_description 2008 Detailed_description criteria Detailed_description .
The patient was started on aspirin Medication , hydroxyurea Medication , and phlebotomies Therapeutic_procedure , all of which were well tolerated.
Six Date years Date later Date , an abdominal Biological_structure ultrasound Diagnostic_procedure scan revealed the presence of dense Detailed_description bilateral Detailed_description perinephric Biological_structure infiltration Sign_symptom , which was confirmed by a whole Biological_structure - body Biological_structure computed Diagnostic_procedure tomography Diagnostic_procedure ( CT Diagnostic_procedure ) scan, and a fluotine-18 fluordeoxyglucose Diagnostic_procedure positron Diagnostic_procedure emission Diagnostic_procedure tomography Diagnostic_procedure ( F Diagnostic_procedure - FDG Diagnostic_procedure - PET Diagnostic_procedure ) scan demonstrated increased Lab_value glucose Diagnostic_procedure uptake Diagnostic_procedure in the medullary Biological_structure channels Biological_structure of Biological_structure both Biological_structure humeri Biological_structure and Biological_structure femurs Biological_structure .
Morphological Detailed_description bone Diagnostic_procedure marrow Diagnostic_procedure analysis Diagnostic_procedure confirmed the previous diagnosis of PV Disease_disorder and showed no evident change in the grading of bone Biological_structure marrow Biological_structure fibrosis Disease_disorder (MF-0 according to the EUMNET Diagnostic_procedure consensus),13 whereas cytogenetic Diagnostic_procedure analysis Diagnostic_procedure revealed the following complex male Lab_value karyotype Diagnostic_procedure : 47,XY,+9[2/20],47,XY,add(6)(p25),+9[2/20],46,XY[16/20] Lab_value .
The histological Diagnostic_procedure nature Diagnostic_procedure of the perinephric Biological_structure infiltration Sign_symptom was identified by means of a CT Detailed_description - guided Detailed_description core Detailed_description biopsy Diagnostic_procedure of the lesion Sign_symptom .
Morphological Diagnostic_procedure analysis Diagnostic_procedure demonstrated the accumulation of foamy Sign_symptom histiocytes Sign_symptom that were positive Lab_value for CD68 Diagnostic_procedure and negative Lab_value for the dendritic cell markers CD1a Diagnostic_procedure and S100 Diagnostic_procedure , surrounded by fibrosis Disease_disorder and a scanty Detailed_description lympho Detailed_description - monocytic Detailed_description infiltrate Sign_symptom (Figure ​(Figure1).1).
The detection of the BRAFV600E Sign_symptom mutation Sign_symptom led to a diagnosis of ECD Disease_disorder .
Cardiac Biological_structure magnetic Diagnostic_procedure resonance Diagnostic_procedure imaging Diagnostic_procedure ( MRI Diagnostic_procedure ) revealed pseudo Detailed_description - tumoral Detailed_description infiltration Sign_symptom of the atrioventricular Biological_structure wall,14 and a bone Diagnostic_procedure scan Diagnostic_procedure showed symmetrically Detailed_description irregular Detailed_description radiotracer uptake Sign_symptom in the long Biological_structure bones Biological_structure of Biological_structure the Biological_structure limbs Biological_structure consistent with ECD Disease_disorder (Figure ​(Figure22)2; the findings of cerebral Biological_structure and pulmonary Biological_structure imaging Diagnostic_procedure were negative Lab_value .
In accordance with the most recent guidelines for the treatment of ECD,1 the patient started therapy with pegylated Detailed_description interferon Medication (IFN)-alpha and, after Date 3 Date months Date of treatment, a new abdominal Biological_structure ultrasound Diagnostic_procedure scan revealed the complete resolution of the dense Detailed_description bilateral Detailed_description perinephric Biological_structure infiltration Sign_symptom , and the normalization Lab_value of the blood Diagnostic_procedure cell Diagnostic_procedure counts Diagnostic_procedure was achieved.