2018 SundayImage Interpretation Session
Donald P. Frush, MD
Professor of Radiology
Stanford University School of Medicine
Lucile Packard Children’s Hospital
Donald P. Frush, MD
RSNA Editorial Fellow, 1998
BS (psych) UC Davis
MDDuke
Residency Duke
Fellowship Cincinnati Children’s Hospital
FacultyDuke (radiology, medical physics)
Professor Duke
Professor Stanford
Donald P. Frush, MD
>260 peer-reviewed publications
>35 book chapters
>400 national & international invited lectures
Chief, Division of Pediatric Radiology
Chair, RSNA Refresher Course Committee
President, Society for Pediatric Radiology
Chair, ABR Board of Trustees
Board of Directors, National Council on Radiation Protection
Chair, Steering Committee, Image Gently Alliance
2018 RSNA Image Interpretation Session
Donald P. Frush, MD
2018 RSNA
Image Interpretation Session
http://ffffound.com/image/c35f51a2931e9d21a7bfa7550b7905bc9a13cafc
To view the Sunday Imaging Interpretation – Final Presentation (with diagnosis) visit the online program starting Monday, November 26, 2018. Click the “Information” tab.
https://rsna2018.rsna.org/program/
PS12
2018 RSNA
Image Interpretation Session
Process
• Identify moderator
• Moderator selects panelists
• Unknown case(s) sent in summer
• We all come here…
This educational opportunity is for you
https://i.pinimg.com/originals/d9/58/87/d958873b1d7a697aee720eb895951377.jpg
2018 RSNA
Image Interpretation Session
What this session brings…
• new staging
• 8 panelists, 8 subspecialties
o one case each
o they don’t know the answer
• will be brisk and informed
o some slides as resources
o I am a mere facilitator
• no fancy slides: “black and white”
• Diagnosis LiveTM
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Diagnosis LiveTM
Warm Up
A. Select this option
B. Do not select this
C. Do not select this
D. Do not select this
https://www.megapixl.com/vitruvian-child-illustration-15947406
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Diagnosis LiveTM
Which of the following do you feel best represents panelists’ experience?
A
B
D
C
2018 RSNA
Image Interpretation Session
Neuro
Christopher Hess, MD PhD
Professor and Chairman
Alexander R. Margulis Distinguished Professor
UCSF Department of Radiology and Biomedical Imaging
• PhD: Electrical Engineering, University of Illinois
• MD: University of Illinois
• Residency: UCSF
• Fellowship: UCSF
Expertise/research contributions: Neurodegenerative disorders, vascular disease, MRI especially diffusion and 7T
10 y.o. old boy with fevers and fatigue x 5 days, admitted due to altered mental status
HR 123, BP 140/90
Lumbar puncture
• Opening pressure 35 cm H20
• 194 nucleated cells/mL, 99% lymphocytes
• protein 234 mg/dL
• glucose 45 mg/dL
Started acyclovir & broad spectrum antibiotics
Initial Evaluation
• History – viral prodrome
• Exam - Fever, HTN, tachycardia
• LP – lymphocytic pleocytosis, high opening pressure
• RX – acyclovir, antibiotics
2 days later…
1 day later… CSF cultures and PCR come back negative;
continued tachycardia and hypertension
• Subtle central perivascular enhancement
• Leptomeningitis
FLAIR
T1+
FLAIR
T1+
3 days later… coma, flaccid paralysis
• Periventricular T2 worse, reduced DWI
• Longitudinally extensive myelitis
• Subtle spinal leptomeningeal enhancement
T1+
T2
DWI
T2
3 days later… coma, flaccid paralysis
• Periventricular T2 worse, reduced DWI
• Longitudinally extensive myelitis
• Subtle spinal leptomeningeal enhancement
Diagnostic Considerations: Meningoencephalomyelitis
Viral, Inflammatory, Vasculitis, Autoimmune
What would you do next to treat this patient?
T2
T1+
T2
DWI
Steroids, IVIG, Plasmapheresis… dramatic improvement !
• Walking with assistance 2 weeks later
• Maintained on IV steroids – deficits resolve (mild difficulty concentrating)
• Brain MRI normal on 6 month follow-up
• Normal CAP CT, scrotal US
Differential Diagnosis
Viral
Inflammatory
Vasculitis
Autoimmune
T1+
T2
My Diagnosis - Autoimmune GFAP Astrocytopathy
• GFAP - Glial fibrillary acidic protein
• Autoimmune meningoencephalomyelitis
• Diagnosis by GFAP-IgG in CSF or serum
• Associated w/ cancer, other neural autoantibodies
• Immune response to neoplastic or viral antigen?
• Responds to steroids but risk of relapse
Final Diagnosis
Autoimmune Glial Fibrillary Acidic Protein (GFAP) Astrocytopathy
Answer
Autoimmune Glial Fibrillary Acidic Protein (GFAP) Astrocytopathy
Autoimmune Glial Fibrillary Acidic Protein (GFAP) Astrocytopathy
– Non-vasculitic autoimmune meningoencephalomyelitis
– Described in 2017
– Clinical manifestations
• Headache, encephalopathy, seizure, ataxia, myelitis
• CSF with elevated lymphocytes and protein
– Imaging findings of this case
• Prominent perivascular enhancement present in ~50%
• Periventricular white matter T2 hyperintensity typical
– Restricted diffusion seen here is unusual
• Leptomeningeal enhancement (present in ~35%)
• Long-segment, T2-hyperintense, enhancing spinal cord lesion (present in ~ 30%)
Autoimmune Glial Fibrillary Acidic Protein (GFAP) Astrocytopathy
Importance
– Radiologist may suggest CSF/serum antibody testing
– Responds to steroids; chronic immunosuppression to prevent relapse
– Paraneoplastic in ~40%; gonadal teratoma common
References
• Fang B et al, Autoimmune glial fibrillary acidic protein astrocytopathy: a novel meningoencephalitis. JAMA Neurol2016; 73: 1297-1307.
• Flanagan EP et al, Glial fibrillary acidic protein immunoglobulin G as biomarker of autoimmune astrocytopathy: analysis of 102 patients. Ann Neurol 2017; 81: 298-309.
• Dubey D et al, Autoimmune GFAP astrocytopathy: prospective evaluation of 90 patients in 1 year. J Neuroimm 2018; 321: 157-163.
2018 RSNA
Image Interpretation Session
Breast
Elizabeth Morris, MD
Chief of the Breast Imaging Service Memorial Sloan Kettering Cancer Center (MSKCC)
Professor of Radiology Weill Cornell Medical College
Larry Norton Endowed Chair
• MD: UCSF
• Residency: Cornell University Medical College
• Breast Imaging Fellowship: MSKCC
Expertise/research contributions: how best to use newer techniques such as MRI for early breast cancer detection and to improve the workup of breast lesions
Back in urban NYC
A year in Hawaii at Lanikai Beach
reading examinations for MSKCC
History
• 37 yo woman with no contributing history
• Presents with painless enlarging left breast over last 12 months. Left now 2 bra sizes asymmetric c/w right
• Physical exam:
• right breast normal exam
• left breast diffusely firm, no skin changes, no axillary or supra-clavicular adenopathy; prominent veins visible throughout the left breast
simple cyst (ignore)
Large painless mass in a young woman without adenopathy/skin changes growing over a year
• Lipofibroadenoma (hamartoma)
• Giant Fibroadenoma / Phyllodes Tumor
• Cancer / Angiosarcoma
• Lymphangiomatosis
• Giant Pseudoangiomatous Stromal Hyperplasia (PASH)
Biopsy performed at this point
multiple slices from superior to inferior
2nd pass T1 +C
multiple slices from superior to inferior
2nd pass T1 +C, subtraction
T1 non fat-sat
T1 fat-sat, pre-contrast
T2WI
Based on MRI
• Lymphangiomatosis
• Giant Pseudoangiomatous Stromal Hyperplasia (PASH)
STIR
Post gad T1
Post gad T1 sub
T2
Rare tumors 2012;12:4
Breast Care 2010;5:250–252
Lymphangiomatosis
Giant Pseudoangiomatous Stromal Hyperplasia (PASH)
• Benign tumor of myofibroblasts
• Hormonal influence / young women
• Microscopic foci or discrete tumors
• Described 1986 / ̴100 cases as masses
• Dense, collagenous proliferation of mammary stroma forming inter-anastomosing capillary-like spaces
• Differentiated from low grade angiosarcoma
• Congenital – dilated lymphatic channels lined with epithelium
• Simple – small capillary-sized thin-walled vessels w/ connective tissue
• Cystic – well defined large communicating cysts
• Cavernous – sponge-like areas composed of small cavernous spaces & dilated lymphatic channels – cyst walls have lymphoid aggregates
• Rapid expansion can occur due to hemorrhage
Radiology 1996
Final Diagnosis
Giant Pseudoangiomatous Stromal Hyperplasia (PASH)
Answer
Giant Pseudoangiomatous Stromal Hyperplasia (PASH)
Pseudangiomatous Stromal Hyperplasia (PASH)
• Benign stromal condition: myofibroblastic proliferation
• Can mimic low grade angiosarcoma on histology (“pseudoangiomatous”)
• Occurs predominantly in pre-menopausal women
• Typical presentation:
1. Focal asymmetry or developing density
2. Similar in appearance to typical fibroadenoma
• Uncommonly presents as massive enlargement of breast(s)
• Benign; no treatment needed except in rare cases of massively involved unilateral or bilateral breast (cosmesis)
2018 RSNA
Image Interpretation Session
Thoracic
Tomás Franquet, MD PhD
Chief Pulmonary Radiology, Hospital de Sant Pau (Universidad Autónoma de Barcelona)
• MD: Universidad de Navarra, Pamplona
• Residency and PhD: Clinica Universidad de Navarra
• Fellowship: thoracic radiology (Nestor L. Müller) Vancouver
Expertise/research contributions: Chest CT; thoracic infections
Summer (1976)
Running the bulls (1973)
Fleischner Meeting. NYC (2016)
Jud Gurney. STR (2006)
Wife Salome and daughter Elisa (Boston, 2012)
Alex and me (2012)
Stanley Siegelman, Ana, Alberto & me (Hospital de Sant Pau)
Wellesley , MA. September 2018
Barcelona, Christmas 2016
Middle age man;
former smoker, hemoptysis
Imaging Findings
CXR: Ill-defined mass in the LLL extending from the left hilum.
Contrast enhanced CT: Homogeneous non-cavitary soft-tissue mass with left hilar adenopathy, displacement of broncho-vascular structures and areas of peripheral collapse
PET-CT: Intense homogenous increased glucose uptake of the mass and increased abnormal glucose uptake in left lower paratracheal, subcarinal nodal station and left hilum (> than reactive uptake)
Differential Diagnosis
Solitary lung mass with lymphadenopathies: many possibilities
1. Neoplastic: Lung cancer (invasive ADK, undifferentiated neuroendocrine tumor (carcinoid), Maltoma,…
2. Inflammatory / Granulomatous:Sarcoidosis, IgG4 disease, GPA, Bronchocentric granulomatosis…
3. Infectious: Mycobacteria, Fungi
A diagnostic procedure is performed and treatment is started
Increasing dyspnea after 4 months of treatment
Increasing dyspnea after 4 months of treatment
4 months later
Baseline
Increasing dyspnea after 4 months of treatment
4 months later
Baseline
Increasing dyspnea after 4 months of treatment
Baseline
4 months later
Increasing dyspnea after 4 months of treatment
Baseline
4 months later
Increasing dyspnea after 4 months of treatment
Baseline
4 months later
Imaging Findings
CT: Multiple small nodules in peri-lymphatic distribution, subpleural, along the bronchovascular bundles, interlobular septum and in a symmetric and upper zone predominant distribution
Increasing dyspnea after 4 months of treatment
Differential Diagnosis
Neoplastic:
1. Lymphangitis carcinomatosa: ADK (breast, lung, stomach)
2. Lymphoproliferative disease
3. Pulmonary tumor thrombotic microangiopathy (PTTM): Gastric cancer is the most commonly associated malignancy
Infection:
1. Mycobacteria / Fungi
Differential Diagnosis
Inflammatory / Granulomatous:
1. IgG4 related lung disease: features are often excellentmimickers of malignancies, infections, and other immune-mediateddisorders (vasculitis)
2. Sarcoidosis / Sarcoid reaction
2018 Nobel Prize in Physiology / Medicine
Tasuku Honjo
James P. Allison
Steve Gschmeissner/Science Source
Cancer immunotherapy: latent powerof the immune system to attack tumor cells
Final Diagnosis
Sarcoid-like granulomatosis of the lung related to immune checkpoint inhibitors
Answer
VATS Biopsy LUL:
Sarcoid-like granulomatosis of the lung
Sarcoid and Malignancy
*Clinics Derm 2007; 25: 326–333
**Respirology 2014:19:993–998
Pre-existing sarcoidosis
• ? increased incidence*
• Especially HD, NHL
• “sarcoid-lymphoma” syndrome
• Controversial
• Meta-analysis: no increased risk**
Lung cancer:
*Lung Cancer 2009; 66:305-308
** Human Pathol 2012; 43: 333–338
*J Comput Assist Tomogr 2015; 39: 143–148
Sarcoid and Malignancy
Sarcoid-like reaction
• granulomatous process resembling sarcoidosis
• inflammatory response to neoplasm or treatment
• 1 – 2 years after neoplasia diagnosis
• typically no systemic symptoms
• can be nodal only (most common?)
• can involve other tissues (lung)
o perilymphatic, discrete, or GGO
*Clinics Derm 2007; 25: 326–333.
J Comput Assist Tomogr 2015; 39: 143–148.
Summary
• Non-sporadic sarcoidosis (or sarcoid-like reaction) in a variety of settings, including
- neoplasia
- drug therapy
- occupational exposure
• A sarcoid-like reaction should be suspected in patient with a cancer diagnosis who develops
- new lymphadenopathy
- perilymphatic nodules, or
- ground glass opacities
• A sarcoid-like reaction in a cancer patient is a usually diagnosis of exclusion: progressive neoplasm, infection and/or drug-toxicity must be excluded.
2018 RSNA
Image Interpretation Session
Cardiovascular
Pamela Woodard, MD
Professor, Radiology and Biomedical Engineering
Sr. Vice Chair, Radiology Research Facilities
Head, Cardiac MR/CT
Mallinckrodt Institute of Radiology
• MD: Duke University School of Medicine
• Internship: Internal Medicine, UNC Chapel Hill
• Residency: Radiology, Duke University
• Fellowship: Cardiothoracic Radiology, Mallinckrodt
Expertise/research contributions: Pulmonary thromboembolism, nanotechnology, MRA and cardiac CT
Ed, Gwyneth and Felix, the rescue cat
History
57 year-old female presenting with:
• 3-month history of daily exertional shortness of breath
• fatigue, and
• non-localized lower back pain
Aortitis – diffuse inflammation of the aorta
• giant cell arteritis (GCA)
• Takayasu arteritis
• Cogan's syndrome
• systemic lupus erythematosus/rheumatoid arthritis
• HLA-B27 associated spondyloarthropathies (Reiter’s and ankylosing spondylosis)
• ANCA-associated vasculitides (Wegener’s, microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss)
• Behçet's disease
• sarcoidosis
• infectious (tuberculosis, syphilis, salmonella and other bacteria)
• idiopathic retroperitoneal fibrosis (Ormond’s disease)/inflamed abdominal aortic aneurysm
• Erdheim-Chester.
• idiopathic isolated
Exertional SOB
• Lung – SLE, RA, sarcoid, HLA-B27 associated, ANCA-associated vasculitides, Behçet's, infectious, giant cell arteritis
• Cardiac – giant cell, Takayasu, Cogan’s, SLE, sarcoid, HLA-B27 associated, ANCA-associated, Behçet's, infectious
Back pain? Sacroiliac joint, other bone involvement?
“Coated aorta”
Final Diagnosis
Erdheim-Chester (non-Langerhans-cell histiocytosis)
Answer
Erdheim-Chester (non-Langerhans-cell histiocytosis)
Erdheim-Chester (non-Langerhans-cell histiocytosis)
• First described by Erdheim and Chester in 1930.
• Excessive production of histiocytes* deposited in organs and tissues.
* CD68 positive/s100-negative lipid-laden macrophages
• Mean age at diagnosis is 53 years.
• Can present with fever, fatigue (microcytic anemia), night sweats, back pain, dyspnea, bone pain.
Erdheim-Chester (non-Langerhans-cell histiocytosis)
• “Coated aorta”
• Peri-renal soft tissue/ “hairy kidney”/retroperitoneal fibrosis
• Cardiac/pericardial
– tissue deposits, usually right atrial wall
– 7% at initial presentation, 22% over course of disease
• Bone involvement (almost always long-bone sclerosing polyostotic)
• Pulmonary fibrosis
• CNS - diabetes insipidus, exophthalmos/papilledema, pituitary
2018 RSNA
Image Interpretation Session
Abdomen: GI
Andrea Laghi, MD
Professor of Radiology and Nuclear Medicine, Sapienza – University of Rome
Chairman, Diagnostic and Interventional Radiology Unit, Sant’Andrea University Hospital, Rome
• MD: Medicine and Surgery, Sapienza
• Residency in DR: Sapienza
• Residency in Nuclear Medicine, Sapienza -University of Rome
Expertise/research contributions: CT (liver, CT colonography and CTA), MRI (liver and biliary ducts, small bowel and contrast media)
History
• 66 year-old male with chronic abdominal pain
• Acute exacerbation
• Chronic medical history, includes
– Gout
– Hypertension
– “Congenital emphysema”: Rx inhalers and prn steroids
• Recurrent pneumothoraces
• Recurrent infections
• Chronically short of breath
History
• Relevant Surgical history
– Bilateral carpal tunnel releases; right side 1970’s
– Bilateral finger amputations: etiology?
– Hx of intussusception: small bowel resection
• Relevant Surgical history
• Bilateral carpal tunnel releases; right side 1970’s
• Bilateral finger amputations: etiology?
Findings: X-ray
• Third finger amputation
• Macrodactyly (disproportionate overgrowth)
• Course trabeculation of enlarged phalanxes
• Soft tissue hypertrophy (metacarpus and around second digit)
• Abnormally calcified connective tissue
Findings: MR
• Soft-tissue fibrotic lesion (low signal on T1/T2), i.e. fibrous hamartoma
• Bone cystic lesions
Findings
• Overgrowth of connective tissues (bone, fat)
• Progressive disease
• Onset at young age
• “Congenital emphysema”: Rx inhalers and prn steroids
• Recurrent pneumothoraces
• Recurrent infections
• Chronically short of breath
T1+C PV
Findings
• Chest X-ray
• Asymmetric hemithoraces; hyperinflation of left lung
• Redistribution of blood flow to the upper lung zones with abnormal enlargement of the upper lobe vessels
• Prominent hila with reticular and streaky densities in both perihilar areas
Findings
• Lung CT
• Hyperinflation of the left lung
• Emphysematous changes
• Areas of scarring and cystic changes in the left lower lobe
History
• Hx of intussusception: small bowel resection
Findings
• Multiple encapsulated lipomas in the stomach, duodenum and jejunum
• Fatty overgrowth in the omentum
• Lipohypoplasia of subcutaneous fat
• Dysregulated adipose tissue
• Splenomegaly
• ?Thick wall of the right ventricle
DIFFERENTIAL DIAGNOSIS
• Macrodystrophia lipomatosa
– Proliferation of all mesenchymal elements, disproportionate increase in fat tissue; mostly unilateral; lower limb >> upper limb; second / third digits; no extra-skeletal/ visceral involvement
• Multiple symmetric lipomatosis (Madelung disease)
– No bone involvement
• CLOVE (Congenital Lipomatous Overgrowth, Vascular malformations, and Epidermal nevi, Skeletal) syndrome
– No lung involvement
• Proteus syndrome
– Cerebriform connective tissue nevi; asymmetric overgrowth of body parts, particularly bones; cystic lung disease/emphysema; aggressive abdominal lipomas
Final Diagnosis
Proteus Syndrome
Answer
Proteus Syndrome
Proteus Syndrome
• Rare congenital hamartomatous syndrome
• Prevalence < 1 per 1,000,000 live births
• Overgrowth of multiple tissues, especially bone, fat, and other connective tissues in a patchy or mosaic pattern
– disproportionate, asymmetric overgrowth of body parts
– characteristic cerebriform connective tissue nevi
– epidermal nevi in early life (by 18 months)
– sole of foot involvement rare in other differential considerations
– vascular malformations (capillary, venous, or lymphatic types)
– dysregulated adipose tissue (lipomas, lipohypoplasia, fatty overgrowth, localized fat deposits)
– unusual features: bullous lung alterations; specific neoplasms; facial phenotype associated with intellectual disability and/or seizures, and/or brain malformations; deep vein thrombosis
Clin Genet 2014: 85: 111–119
Proteus Syndrome
http://www.ijdr.in/articles/2014/25/6/images/IndianJDentRes_2014_25_6_828_152215_f1.jpg
https://i0.wp.com/thehopenewspapers.com/wp-content/uploads/2015/10/Weekend-Hope-Page-2-Oct-17.jpg1_.jpg
http://4.bp.blogspot.com/-mizhXgYFtgo/T7ixZv1gstI/AAAAAAAAAGg/GSzajn-oCQQ/s400/Proteus-Syndrome+copy.jpg
Jamis-Dow et al RadioGraphics 2004; 24 1051
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Diagnosis LiveTM
Which is most correct regarding Proteus Syndrome?
A. Named after a Greek sea god
B. Named for Joseph (“John”) Merrick’s home town
C. Afflicted Abraham Lincoln
D. The model for the Michelin man
http://www.carlogos.org/tire-brands/Michelin-logo.html
Diagnosis LiveTM
Which is most correct regarding Proteus Syndrome?
A. Named after a Greek sea god
B. Named for Joseph (“John”) Merrick’s home town
C. Afflicted Abraham Lincoln
D. The model for the Michelin man
2018 RSNA
Image Interpretation Session
Abdomen: GU
Training
Training
• Exploring in the woods
• Building forts
• Riding my bike
• Making mistakes
• Learning kindness
• Exploring in the woods
• Building forts
• Riding my bike
• Making mistakes
• Learning kindness
Matthew Davenport, MD
Associate Professor, Radiology and Urology
Associate Chair, Quality
Director, Body MRI
• MD: University of Cincinnati College of Medicine
• Residency: University of Michigan Health System
• Fellowship: Abdominal imaging, Duke University
Expertise/research contributions: safety and efficacy of contrast material; prostate MRI, urologic and hepatobiliary imaging, quality improvement, and image-guided procedures
Quinn
Christi
History
63 year-old female with:
• right abdomen/flank pain
• long standing history of seizures
• 5.0 kg unintentional weight loss
Ultrasound Found:
A thing.
CT shows:
Large bilateral solid perinephric masses
Just bowel
Just bowel
No nodes
Iso, no fat attenuation
Solid
Extrarenal
Normal adrenals
Volume averaging?
Fat plane
Normal skin
Normal skin
Nothing perineural
Thought Process
Why bother thinking?
1. Ultrasound was very helpful, thanks for that
2. Renal vs. perirenal have very different DDx
3. Seizures imply a neuro-oncologic syndrome
4. Multi-year = probably not mets
5. “Guess that mass” always seemed odd to me
Perirenal Differential Diagnosis
Chronic history, also, film panel
+CNS, but nodes common
Negative study
Too aggressive, bones OK
PerirenalLymphoma or metsHistiocytosisconditionsPlasmacytomasParagangliomasExtramedullaryHematopoesisErdheimChesterMass-forming IgG4
Common in syndromes, good look
No risk factors for this
+CNS, but usually “hairy” kidney
Film panel, but no other findings
Neuro-Oncologic Differential Diagnosis
Paragang, but no other evidence
No other abdominal signs
PerirenalNF-1vHLMany othersTuberousSclerosis
Most do not fit this presentation
+Seizures, classic history, but:
Otherwise normal kidneys
Fat-poor AMLs not usually this big
No definite renal origin
Some AMLs nasty:
Epithelioid AMLs
(aggressive)
Final Differential and Plan
Reasonable possibilities
--Fat-poor epithelioid AMLs in setting of TS
--Histiocytosis (Rosai-Dorfman [non-Langerhans cell])
--Lymphoma
--Paragangliomas
--Mass-forming IgG4
Plan:
Look at chart (do they have TS?)Comparisons (esp. CNS)
Metanephrines – if above (-)
Set up for biopsy
Final Diagnosis
Fat-poor epithelioid AML (Perivascular epithelioid cell tumor-PEComa family)
Answer
Perivascular epithelioid cell tumor (PEComa)
Perivascular epithelioid cell tumors(PEComas)
• WHO: family of neoplasms showing morphologic and immunohistochemical evidence of perivascular epithelioid cell (PEC) differentiation,
angiomyolipoma (AML)
lymphangioleiomyomatosis (LAM), and other clear cell tumors
• Rare mesenchymal tumor
Cells with association with blood vessel expressing melanocytic and smooth-muscle markers
• Association with the tuberous sclerosis complex (TSC)
• Can occur in various sites with wide range of imaging characteristics (often exophytic)
• Fat may be identifiable on CT or MR but not in malignant lesions; most cured by resection
• Tumors with near-total epithelioid histology can mimic RCC, lymphoma, or minimal fat AML
2018 RSNA
Image Interpretation Session
MSK
Laura Bancroft, MD
Florida Hospital Imaging Services and FRi – Diagnostic Imaging
Adjunct Professor, Florida State University School of Medicine
Clinical Professor, University of Central Florida School of Medicine
• MD: University of Missouri-Kansas City
• Residency: University of Miami
• Fellowship: Mayo Clinic Florida
Expertise/research contributions: educational leader, appropriateness criteria, MSK imaging techniques
Joe Bancroft, MD3 Children (Baylor Med School, Texas A&M, Middle School)
Photography and Travel
History
• Male in his 60’s
• Several years of generalized pain, fatigue, and muscle weakness with abnormal gait
• History of pubic ramus fractures and rib fractures
• Recent diagnosis of prostate cancer
– Watchful waiting
• 2-3 year history of pain and discomfort in right thigh
STIR
T1
T1 with contrast
T1
STIR
Additional Data
• Bone density evaluation → osteopenia
Clinical History
Chronic pain, fatigue muscle weakness abnormal gait
OSTEOMALACIA
• Vitamin D
deficiency/liver dz
• X-linked hypophosphatemia
• Drug toxicity
• Tumor-induced
FRACTURES
Laboratory
Ca PO4 25D 1,25D
Chronic pain, fatigue muscle weakness abnormal gait
+
N
N
• Vitamin D
deficiency/liver dz
• X-linked hypophosphatemia
• Drug toxicity
• Tumor-induced
N
N
N
N
OSTEOMALACIA
+
N
FRACTURES
Z-score -3.4
T1
Imaging
– Size
– Location
– Density
– Enhancement
– *Tumor matrix
• Amorphous
• Punctate
MRI
• Heterogeneous
• Primarily
–T1 hyperintense
–STIR isointense
T1
STIR
T1+Gd
• *Foci of low signal
• *Markedly enhancing
Octreoscan(Octreotide, 111In-pentetreotide)
• Tumors - high expression somatostatin receptors
– Neuroendocrine tumors
– Adrenal medullary tumors
– Merkel cell tumor of skin
– Pituitary adenoma
– Small-cell lung carcinoma
– Phosphaturic mesenchymal tumors
– Neuroendocrine tumors
– Adrenal medullary tumors
– Merkel cell tumor of skin
– Pituitary adenoma
– Small-cell lung carcinoma
– Phosphaturic mesenchymal tumors
Final Diagnosis
Phosphaturic Mesenchymal Tumor
Answer
Phosphaturic Mesenchymal Tumor
Phosphaturic Mesenchymal Tumor
• Cause of oncogenic osteomalacia/tumor-induced osteomalacia
• Renal phosphate wasting (hypophosphatemia) and normocalcemia
– resection: normalization
• May have long history of systemic symptoms (muscle weakness, pain, osteomalaciawith a clinically occult, asymptomatic, or mildly symptomatic mass)
• Can occur with masses in soft tissue or in bone
• Variable MR imaging characteristics
• Increased uptake on somatostatin analog nuclear medicine imaging
• FGF-23 (fibroblast-derived growth factor) level is elevated when tumor present (present in this case); a marker (ie recurrence)
• Recognition of signs/symptoms is key to prompt laboratory and imaging evaluation
2018 RSNA
Image Interpretation Session
Peds
Paul Guillerman, MD
Professor of Radiology, Baylor College of Medicine
Director of Faculty Development and Chief of
Academic Affairs, Texas Children's Hospital
• MD: Washington University School of Medicine
• Residency: Mallinckrodt Institute of Radiology
• Fellowship: Children’s Hospital Medical Center, Cincinnati
Expertise/research contributions: thoracic imagingincluding interstitial lung disease, oncology, practiceguidelines
“Dad, I think you need to keep your day job”
“Dad, I think you need to keep your day job”
Diagnosis LiveTM
Diagnosis LiveTM
• Tap which state you think this signage is from.
• Click submit.
Texas destinations in case I lose my day job
“Texas destinations in case I lose my day job”
2018 RSNA
Image Interpretation Session
http://traveltempters.com/texas/uncertain/
History
• 2 year old girl who originally presented at an outside practice
• “renal abnormalities”
• abdominal distension
• Followed by renal ultrasound
Renal Ultrasound at 2 Years of Age
History
• 2 year old girl who originally presented at an outside practice
• “renal abnormalities”
• abdominal distension
• Followed by renal ultrasound
• At 26 months of age:
• enlarged right kidney; mass suspected
• MRI performed
MRI at 26 Months of Age
T2-FS
T2-FS
T1+C Arterial Phase
T1+C PV Phase
Subsequently, US-Guided Right Renal Biopsies:eventual path diagnosis was “Wilms”
Findings
• Young child with asymmetric nephromegaly and multiple solid masses replacing normal renal parenchyma with loss of cortico-medullary distinction
↓
• Nephroblastomatosis +/- Wilms tumor >>>>>>>>>> lymphoma, metastases
• Very difficult to distinguish hyperplastic nephrogenic rests from Wilms tumor on biopsy
• It can’t be that straightforward, can it?
Additional Findings
• Fluid-filled locules within left abdominal wall, para-aortic/para-renal retroperitoneum, and right pelvis; ? thoracic and right hip lipomatosis; otherwise, decreased adipose tissue
↓
• Overgrowth syndrome with veno-lymphatic vascular malformations
• Isolated hemihypertrophy, Beckwith-Wiedemann, Perlman, Soto, and Simpson-Golabi-Behmel syndromes are associated with overgrowth, nephrogenic rests and Wilms tumor, but not with vascular malformations
• So, what could be the diagnosis in this case?
Final Diagnosis
PIK3CA-Related Overgrowth Spectrum (PROS): CLOVES Syndrome
Answer
PIK3CA-Related Overgrowth Spectrum (PROS): CLOVES Syndrome
PIK3CA-Related Overgrowth Spectrum (PROS)
• Associated with vascular malformations
• Somatic mutations in PIK3CA phosphatidylinositol-3-kinase
• Sporadic, mosaic, congenital or early childhood onset, progressive
• Highest risk of nephroblastomatosis and Wilms Tumor in CLOVES
CLOVES Syndrome
• This patient has somatic mosaicism for PIK3CA mutation
• CLOVES = Congenital Lipomatous asymmetric Overgrowth of the trunk/extremities, lymphatic/capillary/venous/combined-type Vascular malformations, Epidermal nevi, Skeletal (eg spinal) anomalies
• This patient has:
• Lipomatous overgrowth
• Lymphatic and venous malformations
• Epidermal nevi
• Skeletal abnormalities
• Wilms Tumor
Gripp et al Am J Med Genet 2016;170:2559-2569; Peterman et al Pediatr Blood Cancer 2017;64:e26684;
Hucthagowder et al Clin Genet 2017;91:79-85; Biderman Waberski et al Genet Med 2018 (in press)
PIK3CA-Related Overgrowth Spectrum (PROS)
• Overall 1.4*-3.3%** risk of nephroblastomatosis or Wilms tumor
• Cases of Wilms diagnosed by 24 months of age
*Postema et al Am J Med Genet 2017;173A:2293-2295
**Peterman, et al Pediatric Blood Cancer 2017 Dec;64(12)
Deepest Gratitude
Neuro:
Michael Malinzak, MD
Abd GI:
Rendon Nelson, MD
Breast:
Jay Baker, MD
MSK:
Lee Cothran, MD
Thoracic:
Page McAdams MD
Peds:
Gary Schooler, MD
CVI & Abd GU:
Daniele Marin, MD
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