Intratumoral peripheral small papillary tufts: a diagnostic clue of renal tumors associated with Birt-Hogg-Dubé syndrome.
In this article, we searched for the common histologic characteristic of renal tumors in patients with Birt-Hogg-Dubé syndrome (BHDS). We selected 6 patients with histologically confirmed renal tumor in BHDS. Germline FLCN gene mutation has been identified in 5 patients. Multifocality and bilaterality of the renal tumors were pathologically or radiologically confirmed in 5 and 2 cases, respectively. Histologic subtypes of the dominant tumor included 3 previously described hybrid oncocytic tumors, one composite chromophobe/papillary/clear cell renal cell carcinoma (RCC) and one unclassified RCC resembling hybrid chromophobe/clear cell RCC. In one case, chromophobe RCC and clear cell RCC were separately observed. Small papillary lesions located in the peripheral area of the tumor, which we designated as intratumoral peripheral small papillary tufts, were identified in all patients. In conclusion, multifocality/bilaterality of renal tumors, discordance of histologic subtypes, and the presence of intratumoral peripheral small papillary tufts may be important clues to identify BHDS-associated renal tumors.
Department of Diagnostic Pathology, Kochi Red Cross Hospital, Kochi, Japan. Electronic address: kurochankochi@yahoo.co.jp.
Naoto
N
Kuroda
Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mitsuko
M
Furuya
Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Yoji
Y
Nagashima
Division of Pathology, JA Hokkaido Koseiren Sapporo Kosei Hospital, Sapporo, Japan.
Hiroko
H
Gotohda
Department of Advanced Diagnosis, Division of Pathology, Nagoya Medical Center, Nagoya, Japan.
Suzuko
S
Moritani
Department of Diagnostic Pathology, Kobe University Hospital, Kobe, Japan.
Fumi
F
Kawakami
Division of Surgical Pathology, University of Fukui Hospital, Fukui, Japan.
Yoshiaki
Y
Imamura
Division of Pathology, Tokushima University Hospital, Tokushima, University of Tokushima Graduate School, Tokushima, Japan.
Yoshimi
Y
Bando
Department of Urology, Institute of Health Biosciences, University of Tokushima Graduate School, Tokushima, Japan.
Masayuki
M
Takahashi
Department of Urology, Institute of Health Biosciences, University of Tokushima Graduate School, Tokushima, Japan.
Hiro-omi
HO
Kanayama
Department of Diagnostic Pathology, Chiba University Graduate School of Medicine, Chiba, Japan.
Satoshi
S
Ota
Department of Pathology, Charles University in Prague, Faculty of Medicine, Plzen, Czech Republic.
Michal
M
Michal
Department of Pathology, Charles University in Prague, Faculty of Medicine, Plzen, Czech Republic.
Ondrej
O
Hes
Department of Diagnostic Pathology, Chiba University Graduate School of Medicine, Chiba, Japan.
Yukio
Y
Nakatani
D000368:Aged; D001706:Biopsy; D058249:Birt-Hogg-Dube Syndrome / Q000235:genetics / Q000473:pathology*; D002291:Carcinoma, Papillary / Q000235:genetics / Q000473:pathology*; D002292:Carcinoma, Renal Cell / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D011030:Pneumothorax / Q000235:genetics / Q000473:pathology; D011518:Proto-Oncogene Proteins / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins
Birt-Hogg-Dubé syndrome; Intratumoral peripheral small papillary tufts; Renal tumor