title: "Mucin"-secreting papillary renal cell carcinoma: clinicopathological, immunohistochemical, and molecular genetic analysis of seven cases.
abstract: Mucin and mucin-like material are features of mucinous tubular and spindle renal cell carcinoma (MTS RCC) but are rarely seen in papillary renal cell carcinoma (PRCC). We reviewed 1311 PRCC and identified 7 tumors containing extracellular and/or intracellular mucinous/mucin-like material (labeled as PRCCM). We analyzed these using morphological, histochemical, immunohistochemical, and molecular genetic methods (arrayCGH, FISH). Clinical data were available for six of the seven patients (five males and one female, age range 61-78 years). Follow-up was available for four patients (2-4 years); one patient died of widespread metastases. Tumor size ranged from 3 to 5 cm (mean 3.8). Of all cases, histological architecture showed a predominantly papillary pattern. Mucin or mucin-like was extracellular in one, intracellular in three, and both intra/extracellular in three cases. All tumors were positive for AMACR, vimentin, and OSCAR, while CK7 was positive in four. Mucicarmine stain was positive in all cases, PAS in six and Alcian blue in three cases. Five tumors were positive for MUC 1, but none were positive for MUC 2, MUC 4, or MUC 6. In only four cases, genetic analysis could be performed. Gain of chromosomes 7 and 17 was found in two cases; gain of 17 only was found in one case. Loss of heterozygosity of 3p was found in one case together with polysomy of chromosomes 7 and 17. No abnormalities of VHL, fumarate dehydrogenase, and TFE3 genes were detected. We conclude that PRCCM is a rare but challenging subtype of RCC that deserves to be further studied. In all the tumors, the mucin-like material was found in those stained with mucicarmin, but other conventional and immunohistochemical stains did not reveal consistent features of a single mucin. The molecular-genetic profile of these tumors was most consistent with that of typical papillary RCC, although one case had mixed genetic features of papillary and clear RCC. PRCCM has metastatic potential, as evidenced by one case with widespread metastases. It remains to be determined whether PRCCM represents a unique tumor subtype, deserving to be distinguished from other subtypes of PRCC.
authors.affiliation: Department of Pathology, Medical Faculty, Charles University and Charles University Hospital Plzen, Alej Svobody 80, 304 60, Pilsen, Czech Republic.
authors.forename: Kristyna
authors.initials: K
authors.lastname: Pivovarcikova
authors.affiliation: Department of Pathology, Medical Faculty, Charles University and Charles University Hospital Plzen, Alej Svobody 80, 304 60, Pilsen, Czech Republic.
authors.forename: Kvetoslava
authors.initials: K
authors.lastname: Peckova
authors.affiliation: Department of Pathology, Medical Faculty, Charles University and Charles University Hospital Plzen, Alej Svobody 80, 304 60, Pilsen, Czech Republic.
authors.forename: Petr
authors.initials: P
authors.lastname: Martinek
authors.affiliation: Department of Pathology, Instituto Nacional de Cancerologia, Mexico City, Mexico.
authors.forename: Delia Perez
authors.initials: DP
authors.lastname: Montiel
authors.affiliation: Department of Urology, Medical Faculty, Charles University and Charles University Hospital Plzen, Prague, Czech Republic.
authors.forename: Kristyna
authors.initials: K
authors.lastname: Kalusova
authors.affiliation: Department of Urology, Medical Faculty, Charles University and Charles University Hospital Plzen, Prague, Czech Republic.
authors.forename: Tomas
authors.initials: T
authors.lastname: Pitra
authors.affiliation: Department of Urology, Medical Faculty, Charles University and Charles University Hospital Plzen, Prague, Czech Republic.
authors.forename: Milan
authors.initials: M
authors.lastname: Hora
authors.affiliation: Department of Pathology, University Hospital Sarajevo, Sarajevo, Bosna and Hercegovina.
authors.forename: Faruk
authors.initials: F
authors.lastname: Skenderi
authors.affiliation: Pathology Department, Clinical Hospital Center, Sestre milosrdnice, Zagreb, Croatia.
authors.forename: Monika
authors.initials: M
authors.lastname: Ulamec
authors.affiliation: Department of Pathology, Medical Faculty, Charles University and Charles University Hospital Plzen, Alej Svobody 80, 304 60, Pilsen, Czech Republic.
authors.forename: Ondrej
authors.initials: O
authors.lastname: Daum
authors.affiliation: Department of Pathology, Medical Faculty, Charles University and Charles University Hospital Plzen, Alej Svobody 80, 304 60, Pilsen, Czech Republic.
authors.forename: Pavla
authors.initials: P
authors.lastname: Rotterova
authors.affiliation: Department of Pathology, Medical Faculty, Charles University and Charles University Hospital Plzen, Alej Svobody 80, 304 60, Pilsen, Czech Republic.
authors.forename: Ondrej
authors.initials: O
authors.lastname: Ondic
authors.affiliation: Department of Pathology, Medical Faculty, Charles University and Charles University Hospital Plzen, Alej Svobody 80, 304 60, Pilsen, Czech Republic.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Dubova
authors.affiliation: Department of Pathology, Medical Faculty, Charles University and Charles University Hospital Plzen, Alej Svobody 80, 304 60, Pilsen, Czech Republic.
authors.forename: Romuald
authors.initials: R
authors.lastname: Curik
authors.affiliation: Department of Pathology, University Hospital Split, Split, Croatia.
authors.forename: Ana
authors.initials: A
authors.lastname: Dunatov
authors.affiliation: Department of Oncology, Medical Faculty, Charles University and Charles University Hospital Plzen, Prague, Czech Republic.
authors.forename: Tomas
authors.initials: T
authors.lastname: Svoboda
authors.affiliation: Department of Pathology, Medical Faculty, Charles University and Charles University Hospital Plzen, Alej Svobody 80, 304 60, Pilsen, Czech Republic.
authors.forename: Michal
authors.initials: M
authors.lastname: Michal
authors.affiliation: Department of Pathology, Medical Faculty, Charles University and Charles University Hospital Plzen, Alej Svobody 80, 304 60, Pilsen, Czech Republic. hes@medima.cz.|Biomedical Centre, Faculty of Medicine in Plzen, Charles University in Prague, Plzen, Czech Republic. hes@medima.cz.
authors.forename: Ondrej
authors.initials: O
authors.lastname: Hes
mesh_terms: D000368:Aged; D000951:Antigens, Neoplasm / Q000378:metabolism*; D014408:Biomarkers, Tumor / Q000032:analysis; D002291:Carcinoma, Papillary / Q000473:pathology*; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007680:Kidney Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009077:Mucins / Q000032:analysis*
chemical_list: D000951:Antigens, Neoplasm; D014408:Biomarkers, Tumor; D009077:Mucins
keywords: Array CGH; FISH; Immunohistochemistry; Kidney; Mucin; Mucin-like secretion; Papillary renal cell carcinoma