Wilms Tumor - Robbins Essential Pathology PDF

CHAPTER 11 Kidney 203 Wilms Tumor...

CHAPTER 11 Kidney 203 Wilms Tumor as provded mporan nsgs no e paogeness o e umor. Wilms tumor is often caused by inherited or acquired mutations in Approxmaey one rd o paens w WAGR syndrome and amos genes that regulate renal and gonadal development. 90% o paens w Denys-Dras syndrome deveop s umor. he Wms umor accouns or abou 5% o pedarc cancers. gene a s muaed n WAGR and Denys-Dras syndrome s WT1, wc encodes a nucear proen a reguaes e expresson o genes Pathogeness. Aoug Wms umor s usuay a sporadc dsease, a are requred or rena and gonada deveopmen. I s posuaed abou 10% o cases are assocaed w rare congena syndromes: a e aure o norma deveopmen o e kdney resus n com- WAGR (Wms umor, anrda, gena abnormaes, and neecua pensaor y overproeraon o prmorda ces (e rena basema, dsaby) syndrome, Denys-Dras syndrome (Wms umor, gonada or neprogenc ress), and e umors arse rom ese ress. Numer- dysgeness, and eary-onse nepropay), and Beckw-Wede- ous oer genes assocaed w bo sporadc and congena Wms mann syndrome (Wms umor and enargemen o ndvdua body umors ave been dened, bu ow, or even , ey nerere w organs or enre body segmens). he genec bass o ese dsorders norma rena deveopmen s no known. A B Fig. 11.18 Renal cell carcinoma. (A) Yellowish, spherical tumor in the upper pole of the kidney, with tumor in the dilated, thrombosed renal vein. (B) The clear cell microscopic pattern of renal cell carcinoma. A B Fig. 11.19 Wilms tumor. (A) Tumor replacing the lower pole of the kidney. (B) Tightly packed blue cells consis- tent with the blastemal component, and interspersed primitive tubules representing the epithelial component. 204 CHAPTER 11 Kidney Clncal Features. Paens are ypcay younger an 10 years od and Morphology. Wms umor ypcay s a arge, soar y, we- presen w a papabe abdomna mass. Less oten, e presenng ea- crcumscrbed mass, aoug 10% are eer baera or mu- ures are ever and abdomna pan, emaura or, occasonay, nesna cenrc (Fg. 11.19). Mcroscopcay, e umor ces recapuae obsrucon as a resu o pressure rom e umor. he reamen gen- dferen sages o neprogeness, w admxures o basema, eray consss o neprecomy and cemoerapy, somemes suppe- sroma, and epea ce ypes. he basema componen con- mened w radaon erapy. he overa prognoss s very good. sss o sma, bue, prmve-ookng, undferenaed ces; e epea par usuay akes e orm o aborve ubues or gom- eru; and e sroma ces are mmaure spnde ces, somemes sowng skeea musce or car age dferenaon. Approx- maey 5% o umors conan oc o anapasc ces w arge, ypercromac, peomorpc nuce and abnorma moses; ese umors are oten assocaed w TP53 muaons and are reavey ressan o cemoerapy. Neprogenc ress are presen n abou 35% o soar y Wms umors and amos a baera umors (bu are ound n ony abou 1% o norma kdneys because ey regress n cdood).  12 Gastrointestinal System O U T L I N E Congenital Anomalies of the Gastrointestinal Tract, 205 Inflammatory Bowel Disease, 213 Disorders of the Esophagus, 205 Other Inflammatory Diseases, 215 Esophageal Obstruction, 205 Tumors and Related Conditions of the Intestines, 216 Esophageal Varices, 205 Obstructive and Vascular Diseases, 219 Esophagitis, 205 Disorders of the Oral Cavity Esophageal Tumors, 207 and Salivary Glands, 220 Disorders of the Stomach, 207 Inflammatory Disorders of the Oral Cavity, 220 Gastritis and Peptic Ulcer Disease, 207 Tumors and Tumor-like Lesions of the Oral Tumors of the Stomach, 209 Cavity, 220 Disorders of the Small and Large Intestines, 211 Diseases of the Salivary Glands, 220 Diarrheal Diseases, 211 he gasronesna (GI) rac s a oow ube conssng o e esop-    Mos oten sympomac by age 2 (ony approxmaey 4% are ever agus, somac, sma nesne, coon, recum, and anus. Eac regon sympomac). In e rare sympomac cases, common presena- as unque bu compemenar y uncons a ser ve o reguae e ons are gasronesna beedng and acue abdomna compans. nake, processng, and absorpon o ngesed nurens and e ds- posa o wase producs. he nesnes aso are e prncpa se were DISORDERS OF THE ESOPHAGUS e mmune sysem neraces w a dverse array o angens presen n ood and gu mcrobes. In s caper, we dscuss many e nlam- Esophageal Obstruction maor y and neopasc dseases o e GI sysem. We concude w a Obsrucon may be mecanca or uncona. Mecanca obsruc- bre consderaon o dsorders afecng e ora cavy and savar y on resus rom srcures oowng esopagea njur y, deveopmena gands. deecs, and umors. Senoss-assocaed dyspaga usuay s progres- sve; dicuy eang sod oods ypcay occurs ong beore probems w quds. Funcona obsrucon, caed acaasa, resus rom CONGENITAL ANOMALIES OF THE deecs n e one o e ower esopagea spncer (LES). Acaasa s GASTROINTESTINAL TRACT caracerzed by e rad o ncompee LES reaxaon, ncreased LES one, and esopagea apersass. Acaasa resus rom oss o dsa A variety of developmental anomalies can affect the GI tract and esopagea nbor y neurons. In dopac cases, ere s nlamma- are usually either asymptomatic or cause obstruction. or y degeneraon o e neurons. Secondar y oss may occur n Cagas Aresa, suae, and dupcaons may occur n any par o e dsease caused by necon w Trypanosoma cruz. GI rac. Wen presen wn e esopagus ey are dscovered sory ater br, usuay due o regurgaon durng eedng. A rue Esophageal Varices dvercuum s a bnd oupoucng o e amenar y rac a com- Portal hypertension can lead to the development of esophageal muncaes w e umen and ncudes a ree ayers o e bowe varices, an important cause of upper GI bleeding. wa. he mos common rue dvercuum s e Mecke dver tcuum, Pora yperenson (e.g., due o crross) nduces deveopmen o wc occurs n e eum. Mecke dvercuum occurs as a resu o coaera cannes o sun bood rom e pora crcuaon o e cava aed nvouon o e vene duc, wc connecs e umen o crcuaon, creang daed vens (varces) (see Caper 13) (Suppemen- e deveopng gu o e yok sac. hs soar y dver cuum exends a eFg. 12.2). Esopagea varces appear as oruous daed vens wn rom e anmesenerc sde o e bowe (Suppemena eFg. 12.1). e submucosa o e dsa esopagus and proxma somac. Varces he “rue o 2s” eps o remember e caracerscs o Mecke oten are asympomac bu are prone o rupure, wc can ead o mas- dvercua, wc are: sve emaemess and dea.    O ccur n approxmaey 2% o e popuaon    G eneray presen wn 2 ee (60 cm) o e eoceca vave Esophagitis    Approxmaey 2 nces (5 cm) ong Inammation of the lining of the esophagus may be caused by gastric    Twce as common n maes acid, ingested chemicals, immune reactions, and infectious agents. 205  CHAPTER 12 Gastrointestinal System 205.e1 Supplemental eFig. 12.1 Meckel diverticulum. The blind pouch is located on the antimesenteric side of the small bowel. A B C Supplemental eFig. 12.2 Esophageal varices. (A) Although no longer used as a diagnostic approach, this angiogram demonstrates several tortuous esophageal varices. (B) Collapsed varices are present in this post- mortem specimen corresponding to the angiogram in (A). The polypoid areas represent sites where bleeding varices were previously ligated with bands. (C) Dilated varices beneath intact squamous mucosa. 206 CHAPTER 12 Gastrointestinal System Esopags s one o e mos common GI dsorders o adus n e o esopagea adenocarcnomas are assocaed w Barre esopagus. Uned Saes; s major orms are dscussed nex. hereore, perodc sur veance endoscopy w bopsy o screen or dyspasa s recommended. Reflux Esophagitis (Gastroesophageal Reflux Disease) Eosinophilic Esophagitis Gasroesopagea relux dsease (GERD) s e mos common GI a- men w wc paens presen n e oupaen seng, and drugs hs nlammaory condon o e esopagus usuay deveops n or s usua sympom, earburn, are among e mos requeny used response o a reacon o aergens n oods suc as cow mk and soy medcnes. producs. I s assocaed w oer manesaons o aopy, suc as aopc dermas, aergc rns, and asma. Eosnops are pres- Pathogeness. Wen e esopagea mucosa s exposed o gasrc acd, en n e esopagea mucosa, ypcay n ar greaer numbers an n njury and nlammaon occur. Condons a decrease LES one or GERD (see Fg. 12.1C), and dsease may nvove e md or upper esop- ncrease abdomna pressure conrbue o GERD and ncude acoo agus. Sympoms ncude dyspaga and noerance o ood conanng and obacco use, obesy, cenra nervous sysem depressans, pregnancy, e responsbe aergen. Unke n GERD, proon pump nbors are aa erna, deayed gasrc empyng, and ncreased gasrc voume. o med eicacy n eosnopc esopags, bu e dsease oten responds o e excuson o ofendng agens rom e de and rea- men w sysemc serods. Morphology. he esopagea mucosa s nraed w var yng numbers o eosnops (Suppemena eFg. 12.3). Neurops may Chemical and Infectious Esophagitis aso be presen, especay n severe cases and ose w uceraon he mucosa o e esopagus may be damaged drecy by a varey o or accompanyng necon. rrans, ncudng acoo, acds and akas, o luds, and drugs n Clncal Features. Sympoms ncude earburn, dyspaga, and regur- p orm a adere o e esopagea nng. he njur y and assocaed gaon o sour gasrc conens. In more severe cases, ere may be nlammaon cause pan bu are usuay se-med. Inecous esop- aacks o ces pan a are msaken or ear dsease. ags s mos requen n mmunodecen ndvduas. he common agens ncude erpes smpex vrus, cyomegaovrus (Suppemena Barrett Esophagus eFg. 12.4A-C), and Candda. hs compcaon o cronc GERD s caracerzed by meapasc Esophageal Lacerations converson o e norma squamous esopagea epeum o coum- nar epeum, ypcay w gobe ces (Fg. 12.1A,B). Endoscop- he mos common esopagea aceraons are Maory-Wess tears, cay, areas o Barre esopagus appear as ongues or paces o vevey wc are oten nduced by severe recng or vomng. he rougy red mucosa exendng upward rom e gasroesopagea juncon. near aceraons o Maor y-Wess syndrome are ongudnay or- Dyspasa deveops n 0.2% o 1% o ndvduas w Barre esopagus ened and usuay cross e gasroesopagea juncon. hese super- eac year and s a precursor o adenocarcnoma, a cardna exampe o ca ears generay ea qucky and do no need surgca ner venon. e we-recognzed reaonsp beween cronc nlammaon, ssue By conras, severe, ransmura esopagea ears (Boeraave syndrome) njur y, and neopasa. Aoug mos ndvduas w Barre esop- resu n medasns, are caasropc, and requre promp surgca agus do no deveop dyspasa or esopagea cancer, e vas majory ner venon. A B C Fig. 12.1 Esophagitis. (A) Gross image of Barrett esophagus. Only a few areas of pale squamous mucosa remain within the predominantly metaplastic, reddish mucosa of the distal esophagus. (B) Histologic appearance of the gastroesophageal junction in Barrett esophagus. Note the transition between esopha- geal squamous mucosa (lower right) and metaplastic mucosa containing goblet cells (upper). (C) Eosinophilic esophagitis with numerous intraepithelial eosinophils.  CHAPTER 12 Gastrointestinal System 206.e1 Supplemental eFig. 12.3 Esophagitis. Reflux esophagitis with scattered intraepithelial eosinophils and mild basal zone expansion. B A C Supplemental eFig. 12.4 Viral esophagitis. (A) Postmortem specimen with multiple overlapping herpetic ulcers in the distal esophagus. (B) Multinucleate squamous cells containing herpesvirus nuclear inclusions. (C) Cytomegalovirus-infected endothelial cells with nuclear and cytoplasmic inclusions.