Table 2 Summary of reviewed reports with BHD germline mutations and general clinical characteristics, excluding National Cancer Institute reports
ReferenceNo. of patientsClinical FF (Bx FF) (pos/neg/unk)Renal tumour med Hx, and/or CT or MRI (yes/no/unk)Lung cysts (pos/neg/unk)Hx pneumo (yes/no/unk)Germline mutations
Khoo et al 2002521Pos 16/21 (16 Bx+)Yes 2/15; Unk 6Unk 21/21Yes 8/21c.1733delC, c.1733insC
Van Steensel et al 200776Pos 6/6 (6 Bx+)No 5/5; 1 UnkNeg 5/5Yes 1/5c.1863-1873delGGGAGCCCTGT
Ukn 11 Unkc.1755G>C, c. 875delC,
c.1733insC, IVS10-2 A>G
Leter et al 2008823Pos 18/23 (18 Bx+)Yes 2/25Ukn 25/25Yes 4/25c.1065-6delGCinsTA,
2 Uknc.1733insC, c.875delC, c.1110dupG
c.IVS 6-1 G>A
Gunji et al 200795Neg 5/5No 5/5Pos 5/5Yes 5/5c. IVS5-1delgtccctccag,
HRCTc.1795 insCCACCCT, c.1733insC
c.1988delGATG, c.857delC
Graham et al 20051011Ukn 11/11No 11/11Pos 6/6Yes 10/10c.1398G>T, c.1884C>T
Ukn 51 Ukn
Painter et al 20051112Unk 12/12No 12/12Pos 12/12Yes 5/12c.690-3delTCGG
Kawasaki et al 2005122Pos 2/2 (2 Bx+)No 2/2Unk 2/2No 2/2c.1733insC
Lamberti et al 2005131Pos 1/1 (Bx+)UknUnkUknc.1733insC
Bessis et al 2006142Pos 1/2 (1 Bx+)No 2/21 Neg; 1 UnkYes 1/2c.458delG
Murakami et al 2007151Ukn 1YesNegNoc.1733insC
Chest CT
Total85*43/59 Pos(43 Bx+)Yes 5/7723/30 PosYes 33/82
Ukn 26Ukn 8Ukn 55Ukn 3
  • Bx, biopsy; CT, computed tomography; FF, fibrofolliculoma; HRCT, high resolution computed tomography; Hx, medical history; MRI, magnetic resonance imaging; Neg, negative; Pos, positive; Ukn, unknown.

  • *One case was reported twice.7 8