Invasive breast carcinoma - IARC

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BRCA2 syndrome R. Eeles S. Piver S.R. Lakhani J.M. Piek A. Ashworth P. Devilee S. Narod E.H. Meijers-Heijboer A.R. Venkitaraman Definition Inherited tumour syndrome with autosomal dominant trait and markedly increased susceptibility to early onset breast cancer and an additional risk for the development of male breast cancer and, less fre q u e n t l y, pancreatic and ovarian cancer. Occasionally, carriers of a BRCA2 germline mutation present with skin melanoma, gall bladder and bile duct tumours, and cancer of the fallopian tube. MIM No. 600185 {1835} Synonyms Site specific early onset breast cancer syndrome, breast cancer 2, FANCD1. Incidence The B R C A 2 s y n d rome is generally uncommon (about 1 in 1000 individuals), but in certain populations, it is more prevalent. For example, a specific mutation (6174delT) is present in 1.5% of the Ashkenazim and another (999del5) in 0.6% of Icelanders, due to founder effects {2382,2921}. Diagnostic criteria BRCA2 mutations are more often present in families with multiple female breast cancer (>4 cases of early onset at
of TP53 mutation and p53 expression c o m p a red to sporadic breast cancer {580,581,1574}. Prognosis and prognostic factors Since the breast cancers associated with BRCA2 mutations are more often estrogen receptor positive and are associated with DCIS, they would be expected to have a better prognosis. The most systematic study to investigate pro g n o s i s has analysed the survival of Ashkenazi women with breast cancer who have mutations as tested from paraff i n - s t o re d tissue. This is possible because they have a single 6174delT founder mutation. T h e re was no diff e rence in survival between carriers and non-carriers {441}. Risk modifiers and prevention The preventive effect of oophorectomy and tamoxifen, mastectomy, and the possible hazard associated with oral contraceptives are similar in both BRCA syndromes have been dealt with in the preceding section on BRCA1. Ovarian tumours Penetrance and age distribution About 7-10% of ovarian carcinomas are due to inherited BRCA1 or BRCA2 mutations; as these are on autosomes, they can be inherited from either the mother or the father. Although ovarian cancer can occur earlier in B R C A 1 and indeed BRCA2 carriers, the presence of an older onset ovarian cancer still can indicate an underlying mutation in either of these genes. The penetrance of ovarian cancer in BRCA2 carriers is shown in Fig. 8.02; the risk of developing ovarian cancer by age 70 in BRCA2 families is approximately 27% {898}. It should be noted that the penetrance curve starts to rise later than for BRCA1 which could have implications for the timing of prophylactic oophorectomy. Pathology Compared with the information on the pathology of BRCA1-associated ovarian cancers, little is re p o rted on B R C A 2 m u t a t i o n - related ovarian tumours. The paucity of information is accounted for by the low incidence of this disease c o m p a red with that of B R C A 1- l i n k e d cases {329,973}. Some recent studies indicate that the histological phenotype of these ovarian neoplasms is similar to that of BRCA1-associated carcinomas and are predominantly of papillary serous type {329,2239,3272}. A single case of an ovarian malignant mixed müllerian tumour (carc i n o s a rcoma), has been reported as occurring in a BCRA2 mutation carrier {2748}. The data on grade are similar to those of BRCA1 ovarian cancers with an association with higher grade but limited numbers in study and interobserver variation {329,2239,2479,3102,3272} in the scoring of grade should be taken into account when considering the evidence There are no data to support a role of B R C A 2 in borderline ovarian lesions {1044,1704} nor are there germ cell or sex cord stromal tumours. Prevention by oral contraceptives Although it has been long known that oral contraceptives can decrease the risk of developing ovarian cancer in the general population {2}, recently there is evidence that this may also be true for hereditary ovarian cancer {1976,1979,1980}. See the preceding section on BRCA1 syndrome for further details. Prognosis and prognostic factors In a retrospective cohort study, women with BRCA1 or BRCA2 founder mutation advanced-stage ovarian cancer had a longer survival compared with women with non-hereditary ovarian cancer (P = 0.004) and a longer median time to recurrence (14 months versus 7 months) (P< 0.001) {329}. Studies of ovarian cancer occurring in BRCA2 carriers have reported a better p rognosis {329}, but it is uncert a i n whether this is because of the bias in carrier detection in this population or whether they are more sensitive to treatment. If the latter is true, this would be platinum treatments as these data are prior to the use of taxanes. Tumours of the fallopian tube Hereditary fallopian tube carcinoma arises from epithelium overlying the lamina propria of the endosalpinx in women at high hereditary risk to develop ovarian carcinoma. Loss of the wild-type breast cancer 1 or 2 gene (BRCA1/2) allele is most likely pivotal in carcinogenesis of these tumours. To be unequivocally identified, the tumour has to fulfill the clinical and histological criteria for tubal carcinoma {1256} as well as clinical genetic criteria. Incidence F rom 1997 to 2002, a total of 15 here d i t a ry b reast/ovarian family related tubal tumours have been re p o rted in literature . In 4 cases, a B R C A 2 mutation was detected. However, the true incidence of here d i- t a ry tubal carcinoma is probably much h i g h e r, as is suggested for its sporadic c o u n t e r p a rt. This is caused by the fact that p r i m a ry tubal tumours are often mistaken for primary ovarian carcinomas {3150}. M o re o v e r, some primary ovarian carc i n o- mas might actually derive from inclusion cysts lined by tubal epithelial cells included into the ovarian stroma {2247}. Age distribution In general the age of onset is younger in hereditary cases when compared to sporadic cases. Diagnostic criteria The criteria of Hu et. al. {1256} as modified by Sedlis {2614} and Yo o n e s s i {3185} are applied to differentiate hereditary tubal carcinomas from ovarian and endometrial carcinoma. These criteria require that: (i) the main tumour is in the fallopian tube and arises from the endosalpinx, (ii) the histological feature s resemble a tubal pattern, (iii) if the tubal wall is involved, the transition between malignant and benign tubal epithelium should be detectable, (iv) the fallopian tube contains more tumour than the ovary or endometrium. Clinical features Symptoms and signs. To date, there is no indication that clinical hereditary tubal c a rcinoma features are diff e rent fro m those of its sporadic counterpart ; abdominal discomfort is more or less common, but an atypical complaint. The classical but rare triad of symptoms include: (i) prominent watery vaginal discharge, (ii) pelvic pain and (iii) pelvic mass {158}. It has been reported that approximately 10% of patients will have a d e n o c a rcinomatous cells in cervical cytology {3185}. Tumour markers. As in ovarian carcinoma elevation of serum CA125 levels can be found in approximately 80% of cases {1173}. Imaging. CT / MRI are inconclusive with respect to the differential diagnosis of BRCA2 syndrome 347
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Previous volumes in this series Kle
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World Health Organization Classific
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Published by IARC Press, Internatio
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CHAPTER 1 Tumours of the Breast Can
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TNM classification of carcinomas of
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Invasive breast carcinoma I.O. Elli
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Rapid growth and greater adult heig
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tives, administrative and clerical
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Grade 1 - well differentiated: 3-5
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ent and this is occasionally extens
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Most melanotic tumours of the breas
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A Fig. 1.22 A Classic invasive lobu
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yet others at 90% {97,2147}. For pr
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Fig. 1.27 Medullary carcinoma. The
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myoepithelial cells in fibro a d e
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A Fig. 1.33 Neuroendocrine carcinom
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Macroscopy Fisher et al. reported t
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Fig. 1.39 Apocrine carcinoma. Note
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cells contain intracytoplasmic lume
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A Fig. 1.50 Carcinosarcoma. A Two a
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A B C Fig. 1.75 Lobular neoplasia.
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Intraductal proliferative lesions F
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A B absence of either microcalcific
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Fig. 1.83 Atypical ductal hyperplas
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A B Fig. 1.88 Large excision biopsy
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unusual variants as well. Using thi
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esemble those identified in invasiv
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A B Fig. 1.97 Microinvasive carcino
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A Papilloma may be subject to morph
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A B C Fig. 1.103 Papillary intraduc
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colour measuring from 0.5 to 12 cm.
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Immunoprofile The cases studied by
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Glycogen-rich, clear cell carcinoma
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Differential diagnosis There may be
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quality metaphase spreads from an i
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Fig. 1.67 Lobular carcinoma of brea
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detectable distant metastasis displ
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detected at a late stage as small t
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Extent of ductal carcinoma in situ
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Benign epithelial proliferations G.
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Fig. 1.112 Microglandular adenosis.
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A Apocrine adenoma ICD-O code 8401/
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A B Fig. 1.128 Adenomyoepithelioma,
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Mesenchymal tumours M. Drijkoningen
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1113,1275}. There is a complex patt
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A B Fig. 1.137 A Lipoma. Intraparen
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Fig. 1.141 Angiosarcoma after breas
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A Fig. 1.144 Mammary osteosarcoma.
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Fibroepithelial tumours J.P. Belloc
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aged women (average age of presenta
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lished data suggests a 21% rate of
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A Fig. 1.157 Syringomatous adenoma
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Malignant lymphoma and metastatic t
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used. Inflammatory conditions in th
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male population both in the USA and
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CHAPTER 2 Tumours of the Ovary and
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Polyembryoma 9072/3 Non-gestational
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Surface epithelial-stromal tumours
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A Fig. 2.04 A Serous borderline tum
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A Fig. 2.06 Serous borderline tumou
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A Fig. 2.10 Invasive peritoneal imp
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Fig. 2.15 Mucinous carcinoma with i
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Fig. 2.20 Mucinous endocervical-lik
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A Fig. 2.28 Mucinous cystic tumour
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early secretory endometrium {2605}.
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IV, 6% {2233}. Patients with grade
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A Fig. 2.37 A This polypoid intracy
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Fig. 2.40 Endometrioid cyst with at
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1 tumours are extremely rare. Almos
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Fig. 2.50 Borderline Brenner tumour
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express thrombomodulin and have bee
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serous and transitional cell carcin
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is yellow to tan with a variable ad
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Genetic susceptibility JGCTs may pr
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Clinical features F i b romas may b
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distinguishes this tumour from the
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A Fig. 2.77 A Retiform Sertoli-Leyd
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Mean ages of 21 and 38 years and me
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Tumours unassociated with PJS form
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mal origin without crystals of Rein
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Germ cell tumours F. Nogales A. Tal
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cases, anisokaryosis has no prognos
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ation may coexist in the same neopl
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Table 2.06 Grading of ovarian immat
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A B Fig. 2.102 A Mature cystic tera
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Diagnostic procedures Elevated urin
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associated with mature teratomas sh
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atives intimately admixed. The germ
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Fig. 2.113 Mixed germ cell-sex cord
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A Fig. 2.116 A Adenomatous hyperpla
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Fig. 2.117 Small cell carcinoma, hy
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Clinical features Adenoid cystic-li
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Histopathology This epithelial tumo
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sis. Corpus luteum of pregnancy has
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Lymphomas and leukaemias L.M. Roth
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Secondary tumours of the ovary J. P
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Occasionally, the colonic adenocarc
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Peritoneal tumours S.C. Mok J.O. Sc
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A B Fig. 2.140 Cystic adenomatoid m
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whelmingly poor {1038,1547,2310}. H
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CHAPTER 3 Tumours of the Fallopian
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TNM and FIGO classification of carc
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Endometrioid adenocarcinoma Endomet
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Two examples of adenofibroma of bor
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A Fig. 3.11 Adenomatoid tumour. A T
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Clinical features Patients range in
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Fig. 3.16 Uterus-like mass. The cys
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CHAPTER 4 Tumours of the Uterine Co
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TNM and FIGO classification of non-
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Epithelial tumours and related lesi
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endometrioid adenocarcinoma fro m a
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fers from the prototypical type I e
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the ovary and bladder. Unlike prima
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schema {1535,2602}. Although this c
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Table 4.03 Altered gene function in
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Mesenchymal tumours and related les
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areas are limited to less than 30%
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A B C Fig. 4.30 Leiomyosarcoma. A T
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e used sparingly and is reserved fo
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A B Fig. 4.38 Leiomyoma with perino
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cytological atypia, tumour cell nec
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Mixed epithelial and mesenchymal tu
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Prognosis and predictive factors Th
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tumours may superficially invade th
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A Fig. 4.46 A Gestational choriocar
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A Fig. 4.49 A Classic complete hyda
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Sex cord-like, neuroectodermal and
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Secondary tumours of the uterine co
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WHO histological classification of
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Epithelial tumours M. Wells J.M. Ne
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Fig. 5.04 Mechanisms of human papil
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Fig. 5.08 Keratinizing squamous cel
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in their Asian population {2957}. I
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have a strong association with high
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e red by squamous epithelium {380}.
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endometrioid adenocarcinoma of the
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metrial epithelium. In some cases t
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with distinct cell borders and a gr
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Mesenchymal tumours M.L. Carcangiu
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{781}, liposarcoma {2840,3016}, ost
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Mixed epithelial and mesenchymal tu
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Fig. 5.44 Wilms tumour. The tumour
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A Fig. 5.47 Implant of endometrial
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CHAPTER 6 Tumours of the Vagina Alt
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Epithelial tumours E.S. Andersen A.
Page 294 and 295: Aetiology The fact that both VAIN a
Page 296 and 297: Fig. 6.10 Fibroepithelial polyp.A m
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Page 300 and 301: ICD-O codes Adenosquamous carcinoma
Page 302 and 303: A C Fig. 6.17 Sarcoma botryoides. A
Page 304 and 305: 1-11 cm. They may arise anywhere in
Page 306 and 307: elsewhere in the female genital tra
Page 308 and 309: A Fig. 6.24 Yolk sac tumour. A The
Page 310 and 311: g rowing in sheets. Some may have s
Page 312 and 313: WHO histological classification of
Page 314 and 315: Epithelial tumours E.J. Wilkinson M
Page 316 and 317: even with additional sectioning, it
Page 318 and 319: type) is a highly diff e rentiated
Page 320 and 321: Clinical features Bartholin gland c
Page 322 and 323: glandular elements surrounded by fi
Page 324 and 325: Mesenchymal tumours R.L. Kempson M.
Page 326 and 327: Table 7.03 Differential diagnosis o
Page 328 and 329: Prognosis and predictive factors A
Page 330 and 331: Table 7.04 Clark levels of cutaneou
Page 332 and 333: A Fig. 7.23 Vulvar peripheral primi
Page 334 and 335: Familial aggregation of cancers of
Page 336 and 337: BRCA1 syndrome Definition Inherited
Page 338 and 339: dispose individuals to the developm
Page 340 and 341: Fig. 8.05 To assess whether wild-ty
Page 342 and 343: Fig. 8.07 Factors that modify risk
Page 346 and 347: tubal or ovarian carcinomas. Howeve
Page 348 and 349: in typical nuclear foci that may re
Page 350 and 351: Breast tumours Frequency Breast can
Page 352 and 353: Fig. 8.14 Codon distribution of som
Page 354 and 355: Breast tumours Age distribution and
Page 356 and 357: Hereditary non-polyposis colon canc
Page 358 and 359: essary in the evaluation of the pat
Page 360 and 361: Age distribution and penetrance Mos
Page 362 and 363: Contributors Dr Vera M. ABELER** De
Page 364 and 365: Dr Carlo LA VECCHIA Laboratory of E
Page 366 and 367: Dr Manuel TEIXEIRA Department of Ge
Page 368 and 369: 02.100 Dr. A. Ostor 02.101 Dr. F.A.
Page 370 and 371: 52. Akhtar M, Robinson C, Ashraf Al
Page 372 and 373: 180. Bapat K, Brustein S (1989). Ut
Page 374 and 375: 307. Bolis GB, Maccio T (2000). Cle
Page 376 and 377: 436. Chang J, Sharpe JC, A'Hern RP,
Page 378 and 379: 562. Costa MJ, Ames PF, Walls J, Ro
Page 380 and 381: 689. Di Domenico A, Stangl F, Benni
Page 382 and 383: 820. Falck J, Petrini JH, Williams
Page 384 and 385: 943. Gad A, Azzopardi JG (1975). Lo
Page 386 and 387: 1067. Grimes MM (1992). Cystosarcom
Page 388 and 389: 1197. Herod JJ, Shafi MI, Rollason
Page 390 and 391: 1323. Jacques SM, Qureshi F, Ramire
Page 392 and 393: 1449. Khalifa MA, Mannel RS, Harawa
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1564. Lagios MD (1977). Multicentri
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1687. Loman N, Johannsson O, Kristo
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1807. McCluggage G, McBride H, Maxw
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1937. Mukai M, Torikata C, Iri H (1
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2056. Norris HJ, Taylor HB (1967).
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2180. Park JS, Jones RW, McLean MR,
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2304. Puls LE, Hamous J, Morrow MS,
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2 4 3 4 . Rosen PP, Groshen S, Saig
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2559. Schlesinger C, Silverberg SG
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2686. Silverberg SG (1999). Protoco
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2806. Stutz JA, Evans AJ, Pinder S,
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2942. Tornos C, Silva EG, Ordonez N
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3061. Wargotz ES, Norris HJ (1990).
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3189. Yoshioka T, Tanaka T (2000).
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References 425
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Biphasic teratomas, 168 BLM, 341, 3
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G GADD45, 343, 353 GCDFP-15, 25, 33
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MPNST, see Malignant peripheral ner
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Small cell / oat cell carcinoma, 32
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Invasive breast carcinoma - IARC

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