Eble JN, Sauter G., Epstein JI, Sesterhenn IA - iarc

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Fig. 1.08 Hereditary papillary renal cancer (HPRC) with multiple, bilateral papillary RCC. Fig. 1.09 Germline mutations of the MET oncogene in hereditary papillary renal cell carcinoma (HPRC). members develop the disease by the ago of 55 years {2327}. Extrarenal manifestations of HPRC have not been identified. Papillary renal cell carcinoma BHD patients develop myriad papillary tumours, ranging from microscopic lesions to clinically symptomatic carcinomas {1979}. The histological pattern has been termed papillary renal carcinoma type 1 and is characterized by papillary or tubulo-papillary architecture very similar to papillary renal cell carcinoma, type 1. Genetics Responsible for the disease are activating mutations of the MET oncogene which maps to chromosome 7q31. MET codes for a receptor tyrosine kinase {799,1212,1213,1570,2326,2327,2926, 2928}. Its ligand is hepatocyte growth factor (HGFR). Mutations in exons 16 to 19, ie the tyrosine kinase domain causes a ligand-independent constitutive activation. Duplication of the mutant chromosome 7 leading to trisomy is present in a majority of HPRC tumours {768,845,1996,2032, 2937}. Management For patients with confirmed germline mutation, annual abdominal CT imaging is recommended. Hereditary leiomyomatosis and renal cell cancer (HLRCC) Definition Hereditary leiomyomatosis and renal cell cancer (HLRCC, MIN no: 605839) is an autosomal dominant tumour syndrome caused by germline mutations in the FH gene. It is characterized by predisposition to benign leiomyomas of the skin and the uterus. Predisposition to renal cell carcinoma and uterine leiomyosarcoma is present in a subset of families. MIM No. 605839 {1679}. Diagnostic criteria The definitive diagnosis of HLRCC relies on FH mutation detection. The presence of multiple leiomyomas of the skin and the uterus papillary type 2 renal cancer, and early-onset uterine leiomyosarcoma are suggestive {51,52,1330,1450,1469, 2632}. Renal cell cancer At present, 26 patients with renal carcinomas have been identified in 11 families out of 105 (10%) {52,1329,1450,1469, 2632}. The average age at onset is much earlier than in sporadic kidney cancer; median 36 years in the Finnish and 44 years in the North American patients, (range 18-90 years). The carcinomas are typically solitary and unilateral {1450, 2632}. The most patients have died of metastatic disease within five years after diagnosis. The peculiar histology of renal cancers in HLRCC originally led to identification of this syndrome {1450}. Typically, HLRCC renal cell carcinomas display papillary type 2 histology and large cells with abundant eosinophilic cytoplasm, large nuclei, and prominent inclusion-like eosinophilic nucleoli. The Fuhrman nuclear grade is from 3 to 4. Most tumours stain positive for vimentin and negative for cytokeratin 7. Recently, three patients were identified having either collective duct carcinoma or oncocytic tumour {52,2632}. Regular screening for kidney cancer is recommended, but optimal protocols have not yet been determined. Computer tomography and abdominal ultrasound have been proposed {1328,2632}. Moreover, as renal cell carcinoma is present only in a subset of families, there are no guidelines yet, whether the surveillance should be carried out in all FH mutation families. A Fig. 1.10 Hereditary papillary renal cell carcinoma (HPRC) A Tumours have a papillary or tubulo-papillary architecture very similar to papillary renal cell carcinoma, type 1. Macrophages are frequently present in the papillary cores. B Hereditary papillary renal cell carcinoma frequently react strongly and diffusely with antibody to cytokeratin 7. B Leiomyomas of the skin and uterus Leiomyomas of the skin and uterus are the most common features of HLRCC, the penetrance being approximately 85% {1328,2632}. The onset of cutaneous leiomyomas ranges from 10-47 years, and uterine leiomyomas from 18- 52 years (mean 30 years) {2632}. Clinically, cutaneous leiomyomas present 18 Tumours of the kidney
A B Fig. 1.11 A Multiple cutaneous leiomyomas in a female HLRCC patient. B Fumarate hydratase (FH) gene mutations in HLRCC and FH deficiency. Mutated codons identified in the families with RCC and/or uterine leiomyosarcoma are indicated. as multiple firm, skin-coloured nodules ranging in size from 0.5-2 cm. Uterine leiomyomas in HLRCC are often numerous and large. Cutaneous leiomyomas are composed of interlacing bundles of smooth muscle cells with centrally located blunt-ended nucleus. Uterine leiomyomas are well-circumscribed lesions with firm and fibrous appearance. Histologically, they are composed of interlacing bundles of elongated, eosinophilic smooth muscle cells surrounded by well-vascularized connective tissue. Leiomyomas with atypia may also occur. Leiomyosarcoma of the uterus Predisposition to uterine leiomyosarcoma is detected in a subset of HLRCC families (3 out of 105 families) {1450,1469}. The cases have been diagnosed at 30-39 years. Uterine leiomyosarcomas invade the adjacent myometrium and are not well demarcated from normal tissue. The tumours are densely cellular and display spindle cells with blunt-ended nuclei, eosinophilic cytoplasm, and a variable degree of differentiation. Genetics Gene structure and function FH is located in chromosome 1q42.3- q43, consists of 10 exons, and encodes a 511 amino acid peptide. The first exon encodes a mitochondrial signal peptide. {661,662,2623}, but processed FH (without the signal peptide) is present also in the cytosol. Mitochondrial FH acts in the tricarboxylic acid (Krebs) cycle catalyzing conversion of fumarate to malate. FH is also known to be involved in the urea cycle. However, the role of cytosolic FH is still somewhat unclear. Biallelic inacti- A Fig. 1.12 Hereditary leiomyoma renal cell carcinoma (HLRCC). A Renal cell carcinoma from a 50 year old female patient displaying papillary architecture resembling papillary renal cell carcinoma, type 2 (H&E staining, magnification x10). B Thick papillae are covered by tall cells with abundant cytoplasm, large pseudostratified nuclei and prominent nucleoli. B Familial renal cell carcinoma 19
Page 1 and 2: World Health Organization Classific
Page 3 and 4: This volume was produced in collabo
Page 5 and 6: Contents 1 Tumours of the kidney 9
Page 7 and 8: CHAPTER 1 Tumours of the Kidney Can
Page 9 and 10: TNM classification of renal cell ca
Page 11 and 12: one quarter of kidney cancers in bo
Page 13 and 14: Familial renal cell carcinoma M.J.
Page 15: Table 1.02 Genotype - phenotype cor
Page 19 and 20: A B Fig. 1.14 Birt-Hogg-Dubé syndr
Page 21 and 22: Clear cell renal cell carcinoma D.J
Page 23 and 24: Fig. 1.20 Clear cell renal cell car
Page 25 and 26: Papillary renal cell carcinoma B. D
Page 27 and 28: A B Fig. 1.29 Papillary renal cell
Page 29 and 30: Fig. 1.33 Chromophobe RCC with sarc
Page 31 and 32: Carcinoma of the collecting ducts o
Page 33 and 34: Renal medullary carcinoma C.J. Davi
Page 35 and 36: Renal carcinomas associated with Xp
Page 37 and 38: Renal cell carcinoma associated wit
Page 39 and 40: Papillary adenoma of the kidney J.N
Page 41 and 42: of this tumour. Microscopic extensi
Page 43 and 44: A B Fig. 1.59 Metanephric adenoma.
Page 45 and 46: esults in intratumoral aneurysms. O
Page 47 and 48: peritumoural fibrous pseudocapsule.
Page 49 and 50: increases in prevalence to approxim
Page 51 and 52: Nephrogenic rests and nephroblastom
Page 53 and 54: Cystic partially differentiated nep
Page 55 and 56: A B Fig. 1.80 Clear cell sarcoma of
Page 57 and 58: A B Fig. 1.85 Rhabdoid tumour of th
Page 59 and 60: transcription factor is fused to th
Page 61 and 62: Leiomyosarcoma S.M. Bonsib Definiti
Page 63 and 64: Angiomyolipoma G. Martignoni M.B. A
Page 65 and 66: melanocytic and smooth muscle marke
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Multinucleated and enlarged ganglio
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Haemangioma P. Tamboli Definition H
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Fig. 1.107 Juxtaglomerular cell tum
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Intrarenal schwannoma I. Alvarado-C
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Mixed epithelial and stromal tumour
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Synovial sarcoma of the kidney J.Y.
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Renal carcinoid tumour L.R. Bégin
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Primitive neuroectodermal tumour (E
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Paraganglioma / Phaeochromocytoma P
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Leukaemia A. Orazi Interstitial inf
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WHO histological classification of
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TNM classification of carcinomas of
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The risk of bladder cancer goes dow
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Tumour spread and staging Urinary b
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feature in such patients undergoing
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A Fig. 2.12 Infiltrative urothelial
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A Fig. 2.15 A Infiltrating urotheli
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A B Fig. 2.19 A Infiltrative urothe
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Fig. 2.23 Infiltrative urothelial c
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ing systems have been proposed on t
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Non-invasive urothelial tumours G.
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chronically inflamed urothelium and
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Inverted papilloma G. Sauter Defini
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muscle invasive disease, but there
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Fig. 2.42 Non-invasive urothelial n
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A Fig. 2.45 Non-invasive urothelial
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for DBCCR1 silencing {984,2476}. Th
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Squamous cell carcinoma D.J. Grigno
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Fig. 2.51 Squamous cell carcinoma.
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Adenocarcinoma A.G. Ayala P. Tambol
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A B Fig. 2.61 A Adenocarcinoma in s
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A B Fig. 2.65 Intramural urachal ca
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Müllerian origin is postulated for
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A Fig. 2.69 Small cell carcinoma. A
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Carcinoid L. Cheng Definition Carci
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Leiomyosarcoma J. Cheville Definiti
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Osteosarcoma L. Guillou Definition
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Leiomyoma J. Cheville Definition A
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Haemangioma L. Cheng Definition Hae
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Metastatic tumours and secondary ex
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Tumours of the renal pelvis and ure
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nodular, ulcerative or infiltrative
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Tumours of the urethra F. Hofstädt
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usually show enteric, colloid or si
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CHAPTER 3X Tumours of of the the Pr
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TNM classification of carcinomas of
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contrast, mortality among migrants
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Fig. 3.06 Transrectal ultrasound of
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PSA-related diagnostic strategies.
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A B C Fig. 3.10 A,B Section of pros
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pale-clear, similar to benign gland
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A B Fig. 3.20 A, B Adenocarcinoma w
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prostate adenocarcinomas exhibit AR
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A Fig. 3.27 A, B Foamy gland adenoc
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A B Fig. 3.32 A Sarcomatoid carcino
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A B Fig. 3.37 A Gleason score 1+1=2
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A B Fig. 3.43 A Prostate cancer Gle
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Fig. 3.48 Heat map-nature. From S.M
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Fig. 3.51 Prostate cancer. Major su
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many stage T1b cancers. Stage T2 Mo
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Fig. 3.58 Patterns of seminal vesic
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Prostatic intraepithelial neoplasia
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A B Fig. 3.63 A Micropapillary high
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A B Fig. 3.68 A Ductal carcinoma in
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Ductal adenocarcinoma X.J. Yang L.
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Papillary pattern can be seen in bo
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A B Fig. 3.74 A Inflammation withou
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Squamous neoplasms T.H. Van der Kwa
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Neuroendocrine tumours P.A. di Sant
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Mesenchymal tumours J. Cheville F.
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Fig. 3.89 Sarcoma of the prostate.
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Miscellaneous tumours P.H. Tan L. C
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A Fig. 3.96 A Adenocarcinoma of the
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Page 215 and 216:
Introduction F.K. Mostofi I.A. Sest
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wartime birth cohorts illustrate th
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Similar tumours as those of group 1
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crucial for the development of this
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A B Fig. 4.09 Spermatocytic seminom
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A B Fig. 4.14 Intratubular germ cel
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A B Fig. 4.19 Seminoma. A Typical s
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Fig. 4.24 Seminoma. Vascular invasi
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Fig. 4.28 Spermatocytic seminoma wi
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A B Fig. 4.33 Embryonal carcinoma.
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A B Fig. 4.38 Yolk sac tumour. A En
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have cytoplasmic lacunae that conta
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A Fig. 4.46 Teratoma. A Longitudina
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A B Fig. 4.51 A Cut surface of derm
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Fig. 4.54 Mixed germ cell tumour. L
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Sex cord / gonadal stromal tumours
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A B C Fig. 4.67 Malignant Leydig ce
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A Fig. 4.73 A Sertoli cell tumour.
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ICD-O codes Granulosa cell tumour 8
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ICD-O code 8592/1 Clinical features
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A B Fig. 4.83 Germ cell-sex cord/go
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A Fig. 4.85 A, B Brenner tumour of
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typical grade III follicular morpho
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testicular parenchyma and tumour te
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A B the surgical scar and adjacent
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Immunoprofile Ordóñez and associa
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often have a grey-white cut surface
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Fig. 4.111 Angiomyofibroblastoma-li
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A B Fig. 4.119 Embryonal rhabdomyos
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Table 4.05 Secondary tumours of the
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A Fig. 5.04 A, B Squamous cell carc
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deformed by an exophytic mass. In s
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A B C Fig. 5.12 A Warty (condylomat
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A Fig. 5.20 Bowenoid papulosis. A,
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three had been circumcized by 9 yea
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Mesenchymal tumours J.F. Fetsch M.
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Fig. 5.31 Neurofibroma of the penis
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oectodermal tumour/Ewing sarcoma [p
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Secondary tumours of the penis C.J.
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Dr John N. EBLE* Dept. of Pathology
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Dr Ricardo PANIAGUA Department of C
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Source of charts and photographs 1.
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References 1. Anon. (1955). Case re
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115. Ariel I, Sughayer M, Fellig Y,
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246. Birt AR, Hogg GR, Dube WJ (197
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374. Cardone G, Malventi M, Roffi M
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502. Corti B, Carella R, Gabusi E,
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633. Donhuijsen K, Schmidt U, Richt
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768. Fischer J, Palmedo G, von Knob
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900. Goedert JJ, Cote TR, Virgo P,
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1028. Hartmann A, Dietmaier W, Hofs
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1162. Iezzoni JC, Fechner RE, Wong
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1293. Keetch DW, Catalona WJ (1995)
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1424. Ladanyi M, Lui MY, Antonescu
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1548. Lopez-Beltran A, Croghan GA,
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1681. McLaughlin JK, Silverman DT,
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1816. Moudouni SM, En-Nia I, Rioux-
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1945. Ohori M, Wheeler TM, Kattan M
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2070. Phillips G, Kumari-Subaiya S,
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2199. Riou G, Barrois M, Prost S, T
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2327. Schmidt L, Junker K, Weirich
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2450. Smith G, Elton RA, Beynon LL,
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2572. Tamboli P, Mohsin SK, Hailema
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2693. van Echten J, Timmer A, van d
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2816. Wick MR, Berg LC, Hertz MI (1
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2937. Zhuang Z, Park WS, Pack S, Sc
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CCNB, 226 CCND1, 105, 108 CCND2, 22
Page 351 and 352:
J Juvenile type granulosa cell tumo
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Promoter methylation, 21 Prostate s
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