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Unknown primary tumors : common misdiagnosis. Oscar Nappi UOSC di Anatomia patologica AORN A. Cardarelli - Napoli.
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Unknownprimarytumors :common misdiagnosis Oscar Nappi UOSC di Anatomia patologica AORN A. Cardarelli - Napoli
Shapira DV, Jarrett ARThe need to consider survival, otcome and expense when evalueting and treating patients with unknown primary carcinomaArch Intern Med 155 : 2050-2054, 1995 • 56 ptswith CUP • The averagecosttoeachpatientforclinicalprocedureswas 17.973 dollars • Only in 4 cases the primarytumorwasfound • None of the neoplasmswasdeemedcurable and lessthan 20% of the patientssurvived more than 12 monthsafterinitiationoftherapy
Pathologist’s role in management ofunknownprimarytumors • Conventionalcyto-histologicstudiescorrelatedtoclinicalsetting • IMMUNOHISTOCHEMICAL STUDIES • Molecularbiomarkers microRNAs GEP ( gene expressionprofiling )
M 64 ys Cerebral mass
Guarda il citoplasma…per me è un sarcoma epiteliode ! Questo è un linfoma maligno anaplastico Ma..! Le cellule sono incise e macronucleolate. E se fosse un carcinoma ?
Diagnosi finale Neoplasia maligna, n.a.s., quadro compatibile con carcinoma scarsamente differenziato (origine ignota) metastatico
Metastatic melanoma HMB45 S100
UnknownprimarytumorsDangerousmisdiagnosis • Not diagnosing a malignant lymphoma • Not diagnosing an endocrine tumor • Not diagnosing other neoplasias with a favorable ( or relatively favorable ) therapeutical approach
Some neoplasiaswith a favorable ( or relativelyfavorable ) therapeuticalapproach • Breast • Prostate • Extragonadal germ cell • “Peritoneal carcinoma” • Others
CD45 Large cell B lymphoma
Cytokeratinexpression in hematologicalneoplasms:a tissuemicroarraystudy on 866 lymphoma and leukemiacases Adams H, Schmid P, et al PatholResPract 204 : 569- 573, 2008 0,4% HD 0,6% B-LCL O,7 % Peripheral T cellLymphoma 0,7% Myeloma 4% Smallcellymphoma 26% Mantlecelllymphoma
Case 1 Pazient : F ys 46 Clinics and imaging favour a diagnosis of meningioma
CK CK7 LCA CK 20 Mammaglobin
HER2 ER
IHC in distinguish SCC and AC in poorlydifferentiatedlungtumours
Clinical Case • M 47 ys • Multiple bone metastasis ( 2 vertebral bodies, femur ) and multiple nodules in both lungs • FNA CAT-guided of a peripheral lung nodule
Napsin A TTF1
Clinical case • Metastatic lung adenocarcinoma
Also positive in mesothelioma and in so calledPrimaryperitoneal carcinoma
Clinical case • M 38 ys • Axillary lymphadenopathy, retroperitoneal mass • No other apparent neoplastic lesions found • A lymphadenectomy is performed
Clinical case • Immunohistochemicalstudy pan CK positive CK 7 positive CK 20 negative PSA negative TTF-1 negative napsin A negative villin negative Adenocarcinoma NOS
Clinical case • CD 30 +++ • PLAP ++- • OCT 4 +++ Germ cell tumor Embryonal carcinoma CD30
Clinical Case • Male ys 63 • Multiple hepatic nodules • At a first preliminary screening by CAT no other neoplastic lesions found ?
Case Preliminary immunohistochemical study : • CD45 NEGATIVO • HMB45 NEGATIVO • S-100 NEGATIVO • VIMENTINA NEGATIVA • Pan CK POSITIVA
TTF-1 Poorly differentiated adenocarcinoma of the lung ? CK7
NE Markers !! • Chromogranin A • Synaptophisin • CD56 • CD57 • Negative • Weakly and Focal + Ki67 > 15% High grade NE large cell carcinoma of the lung CD56
Dangerous misdiagnosis Metastatic mimicking primary tumors • Lung • Liver • Ovary • Thyroid • Breast • Any organ
METASTASI ENDOBRONCHIALI: QUADRI RADIOLOGICI INDISTINGUIBILI DALLA NEOPLASIA POLMONARE PRIMITIVA Ca sigma Ca stomaco METASTASI A LOCALIZZAZIONE ENDOBRONCHIALE DA TUMORI EXTRA-POLMONARI: STUDIO EPIDEMIOLOGICO E CLINICO-PATOLOGICO