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Abstract：
Birt-Hogg-Dubé syndrome (BHDS) is an inherited tumour syndrome characterised by three major symptoms: lung cysts with spontaneous pneumothorax, fibrofolliculoma and renal cell cancer. The first family with this syndrome was described in 1975 and one of its members presented with adenomatous colon polyps and colorectal cancer. Since then, it has been a matter of debate whether colorectal cancer is indeed part of the BHDS spectrum and if regular screening should be recommended.
We analysed the frequency of colorectal cancer in a large sample of BHDS families. Clinical data were available from 256 BHDS patients (male 130, female 126) belonging to 83 unrelated families. For controls, 83 index patients who attended our outpatient clinic for non-malignancy-related genetic counselling and their family members (total of 519 controls) were used.
The patients with BHDS showed a moderately but significantly increased rate of colorectal cancer (5.1% versus 1.5%, p-value .0068). Unexpectedly, 35% of patients with colorectal cancer corresponding to eight of 82 BHDS families fulfilled the revised Bethesda criteria for HNPCC, either because colorectal cancer occurred before age 50 years or because three family members were affected by colorectal cancer. Apart from colorectal cancer, no other HNPCC-associated tumours occurred within the Bethesda criteria-positive families, an observation that argues against a concurrence of BHDS and HNPCC in these families.
The results suggest that BHDS is associated with early-onset colorectal cancer, a hypothesis that might have a marked impact on preventive screening recommendations.
We analysed the frequency of colorectal cancer in a large sample of BHDS families. Clinical data were available from 256 BHDS patients (male 130, female 126) belonging to 83 unrelated families. For controls, 83 index patients who attended our outpatient clinic for non-malignancy-related genetic counselling and their family members (total of 519 controls) were used.
The patients with BHDS showed a moderately but significantly increased rate of colorectal cancer (5.1% versus 1.5%, p-value .0068). Unexpectedly, 35% of patients with colorectal cancer corresponding to eight of 82 BHDS families fulfilled the revised Bethesda criteria for HNPCC, either because colorectal cancer occurred before age 50 years or because three family members were affected by colorectal cancer. Apart from colorectal cancer, no other HNPCC-associated tumours occurred within the Bethesda criteria-positive families, an observation that argues against a concurrence of BHDS and HNPCC in these families.
The results suggest that BHDS is associated with early-onset colorectal cancer, a hypothesis that might have a marked impact on preventive screening recommendations.
摘要：
Birt-Hogg-Dubé综合征（BHDS）是一种遗传性肿瘤综合征，其特征是三种主要症状：肺囊肿伴自发性气胸，纤维囊瘤和肾细胞癌。1975年描述了第一个患有这种综合征的家庭，其成员之一患有腺瘤性结肠息肉和结直肠癌。从那以后,结直肠癌是否确实是BHDS谱的一部分,以及是否应建议定期筛查一直存在争议.
我们分析了大量BHDS家族样本中结直肠癌的发病率。临床数据可从属于83个无关家庭的256名BHDS患者（男性130名，女性126名）获得。对于控件，使用了83名在我们的门诊接受非恶性肿瘤相关遗传咨询的索引患者及其家庭成员（共519名对照）。
患有BHDS的患者显示出中度但显着增加的结直肠癌发生率（5.1％对1.5％，p值.0068）。出乎意料的是,与82个BHDS家庭中的8个相对应的35％的结直肠癌患者符合HNPCC修订的Bethesda标准，要么是因为结直肠癌发生在50岁之前,要么是因为3位家庭成员受结直肠癌影响.除了结直肠癌,在Bethesda标准阳性家族中没有发生其他HNPCC相关肿瘤，这一观察结果反对这些家庭中BHDS和HNPCC的同意。
结果表明，BHDS与早发性结直肠癌有关，一个可能对预防性筛查建议产生显著影响的假设.
我们分析了大量BHDS家族样本中结直肠癌的发病率。临床数据可从属于83个无关家庭的256名BHDS患者（男性130名，女性126名）获得。对于控件，使用了83名在我们的门诊接受非恶性肿瘤相关遗传咨询的索引患者及其家庭成员（共519名对照）。
患有BHDS的患者显示出中度但显着增加的结直肠癌发生率（5.1％对1.5％，p值.0068）。出乎意料的是,与82个BHDS家庭中的8个相对应的35％的结直肠癌患者符合HNPCC修订的Bethesda标准，要么是因为结直肠癌发生在50岁之前,要么是因为3位家庭成员受结直肠癌影响.除了结直肠癌,在Bethesda标准阳性家族中没有发生其他HNPCC相关肿瘤，这一观察结果反对这些家庭中BHDS和HNPCC的同意。
结果表明，BHDS与早发性结直肠癌有关，一个可能对预防性筛查建议产生显著影响的假设.
