ABSTRACT
Acknowledging the increasing number of studies describing the use of whole-body MRI for cancer screening, and the increasing number of examinations being performed in patients with known cancers, an international multidisciplinary expert panel of radiologists and a geneticist with subject-specific expertise formulated technical acquisition standards, interpretation criteria, and limitations of whole-body MRI for cancer screening in individuals at higher risk, including those with cancer predisposition syndromes. The Oncologically Relevant Findings Reporting and Data System (ONCO-RADS) proposes a standard protocol for individuals at higher risk, including those with cancer predisposition syndromes. ONCO-RADS emphasizes structured reporting and five assessment categories for the classification of whole-body MRI findings. The ONCO-RADS guidelines are designed to promote standardization and limit variations in the acquisition, interpretation, and reporting of whole-body MRI scans for cancer screening. Published under a CC BY 4.0 license Online supplemental material is available for this article.
Subject(s)
Magnetic Resonance Imaging/methods , Medical Oncology/methods , Neoplasms/diagnostic imaging , Whole Body Imaging/methods , Early Detection of Cancer , HumansABSTRACT
We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant OPA3 mutations.
ABSTRACT
We describe a patient who presented with a localized growth of mature fat tissue, which was surgically removed. MRI imaging identified diffuse increase in visceral adipose tissue. Targeted deep sequencing of the resected tissue uncovered a p.H1047R variant in PIK3CA, which was absent in blood. This report expands the phenotypic spectrum of mosaic PIK3CA mutations.
Subject(s)
Lipomatosis/enzymology , Lipomatosis/genetics , Mesentery/pathology , Mosaicism , Mutation/genetics , Phosphatidylinositol 3-Kinases/genetics , Polymorphism, Single Nucleotide/genetics , Adipose Tissue/pathology , Child , Child, Preschool , Class I Phosphatidylinositol 3-Kinases , Female , Humans , InfantABSTRACT
OBJECTIVE: To increase clinicians' awareness of the differences in image resolution and potential diagnostic accuracy between small and large-field MR Scanners. To present an example of a clinical decision making challenge in how to proceed when knee MRI and clinical findings don't agree. CLINICAL FEATURES: A 38 year old female mountain biker presented with knee pain and clinical features strongly suggestive of a torn meniscus or loose bodies. An initial MRI using a small field strength (0.18T) scanner was reported as normal. Her clinical presentation was suspicious enough that a repeat MRI on a high-field (1.5T) scanner was ordered. The second MRI included high resolution 3D volumetric imaging which revealed cartilage damage and loose bodies. INTERVENTION AND OUTCOME: The patient was treated with arthroscopic surgery which confirmed the presence of meniscal and chondral injury and resulted in notable improvement in the patient's symptoms. CONCLUSION: Clinicians should consider scanner quality and diagnostic accuracy before discounting strongly suggestive clinical history and examination findings when MRIs are reported as normal.
OBJECTIF: Sensibiliser les cliniciens aux différences de résolution d'image et de précision potentielle du diagnostic entre les petits et grands imageurs par résonnance magnétique (IRM). Présenter un exemple de difficulté de prise de décision clinique quant à la façon de procéder lorsque l'IRM du genou et les résultats cliniques se contredisent. CARACTÉRISTIQUES CLINIQUES: Une vététiste de 38 ans souffre d'une douleur au genou et les caractéristiques cliniques indiquent clairement une déchirure du ménisque ou la présence de corps étrangers. Une IRM initiale à l'aide d'un petit appareil (0,18 T) n'a rien révélé d'anormal. Son tableau clinique était assez suspect pour qu'un nouvel examen par IRM à l'aide d'un appareil de 1,5 T soit prescrit. Le deuxième appareil d'IRM comportait une imagerie volumétrique haute résolution en 3D qui a révélé des lésions du cartilage et des corps étrangers. INTERVENTION ET RÉSULTATS: Le patient a subi une chirurgie arthroscopique qui a confirmé la présence de lésions du ménisque et de lésions chondrales. Une amélioration notable des symptômes du patient a été enregistrée. CONCLUSION: Les cliniciens devraient tenir compte de la qualité de l'imageur et de la précision du diagnostic avant d'écarter des antécédents cliniques fortement évocateurs et les résultats des examens « normaux ¼ effectués par une IRM.
