an external molecular testing case unexpected diagnosis...
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An External Molecular Testing Case:
Unexpected Diagnosis with a Crucial FISH
Dr. med. Caner Ercan
Institute of Pathology and Medical Genetics
University Hospital Basel
European Congress of Pathology , Nice, 11/09/2019
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Patient History70 year-old Female
Symptom: cough ◦ another hospital.
CT of the chest:◦ «a mass in subcaval location, next to esophagus and atrium.»
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Patient HistoryVideo thorocoscopical biopsy of the mass
◦ FFPE blocks
External diagnosis: “malignant tumor”
No access to the imaging of the tumor.
Previous EBUS hilar lymph node sampling◦ Nonsmall Cell Carcinoma
◦ No access to slides
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On request formGazi University Hospital Pathology Department, Ankara
Molecullar tests for lung carcinoma◦ EGFR PCR
◦ ALK FISH
◦ ROS1 FISH
◦ NGS, «selected cases»
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Morphological FeaturesDense cellular sheets
Fascicular growth pattern◦ Focal palisading
Ovoid-Spindle cells◦ Bland morphology
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Morphological FeaturesStromal hyalinisation
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Morphological FeaturesMinimal Myxoid Stromal Changes
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Differantial DiagnosisSmall cell lung carcinoma
Synovial Sarcoma
MPNST
Ewing Sarcoma
Malignant Mesothelioma
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ImmunohistochemisteryBcl-2
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ImmunohistochemisteryCD99
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ImmunohistochemisteryCytokeratin 7
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OthersImmunohistochemistery
Calretinin Positive (focal)
TTF-1 Negative
Synaptophysin Negative
FLI-1 Preserved
FISH
EWSR Negative
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FISHSS18-SSX
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FISHSS18-SSX
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Current DiagnosisMediastinal located monophasic fibrous synovial sarcoma
◦ with variant FISH t(x,18) pattern
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Synovial SarcomaYoung adults (mostly)
5-10% of all soft tissue sarcoma
Deep solft tissues of extremities (mostly)◦ Lung, Heart, Mediastinum rare locations
Slowly growing mass
Metastasis 50% cases◦ Lung most common site
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SS18-SSXt(x;18) (p11.2;q11.2)
◦ %95 of the SS cases
FISH break-apart ◦ SS18
◦ centromeric 3′ and telomeric 5′ positions, with green and red signal respectively
◦ 1F+1R+1G
1F+1R◦ Similar pattern ALK, ROS1
Turc-Carel, C., et al., Translocation X;18 in synovial sarcoma.Cancer Genetics and Cytogenetics, 1986. 23(1): p. 93.
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SS18-SSXt(X;18)(p11.2;q11.2)
Lazar et al, Arch Pathol Lab Med—Vol 130, August 2006
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SS18Interpretation
MFC Amary et al, Modern Pathology (2007) 20, 482–496
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SS18Uncommon patterns
1F + 1R
≥ 1F + ≥ 2R ≥ 2F + ≥ 2R
2F + 1R
Jiang el al. Virchows Arch (2017) 471:799–807
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ConclusionDiagnosis of external molecular cases must be reevaluated/studied
Synovial sarcoma sample may be received form Thorasic surgery department
The molecular pathologist should be aware of uncommon FISH patterns
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Special ThanksProf Dr med Nalan AkyürekAnkara, Turkey
Prof Dr med Luigi Terracciano
Basel, Switzerland