Estudio del anticuerpo DOG1 en el diagnóstico de tumores del estroma gastrointestinal – GIST / The role of the DOG1 antibody in the diagnosis of gastrointestinal stromal tumours – GIST

Los tumores del estroma gastrointestinal (GIST)poseen mutaciones en los genes del receptor de la tirosínquinasa (RTKs) KIT y PDGFRA. La posibilidad debloquear esta actividad ha significado una nueva esperanzaterapéutica. El diagnóstico de GIST recae en laexpresión inmunohistoquímica del c-KIT, pero un 4-15%son c-KIT negativos (aún en presencia de mutación), ysin embargo estos pacientes podrían beneficiarse deltratamiento con inhibidores tirosín quinasa (TKIs).El DOG1 es un nuevo anticuerpo cuya sensibilidady especificidad parece ser superior o igual a la del c-KIT.El objetivo de este trabajo es evaluar la sensibilidad(Se) y especificidad (Sp) de DOG1 en GIST de tipo usual(c-KIT positivos), de tipo inusual (c-KIT negativos) yfrente a otros tumores fusocelulares mesenquimales, ycomparar la validez diagnóstica del DOG1 frente al c-KIT.Estudiamos 40 GIST, 39 c-KIT positivos y un c-KITnegativo. Se realizó un panel inmunohistoquímico conlos anticuerpos: c-KIT, CD34, actina músculo liso, DOG1y S100, en los GIST como en siete tumores fusocelulares.La Se y Sp de GIST para DOG1 fue del 100 y 97,5%para c-KIT. La inmunoreactividad para DOG1 en todoslos tumores fusocelulares fue negativa. La validez diagnósticade DOG1 y C-KIT fue similar a la hora de detectarGIST y no GIST.DOG1 es un marcador específico y sensible para eldiagnóstico y diagnóstico diferencial de GISTs (es capazde detectar algunos GIST sin mutación en RTK).El DOG1 debería de formar parte del panel inmunohistoquímicopara el diagnóstico de GIST(AU)

Gatrointestinal stromal tumours (GIST) harbouroncogenic mutations in tyrosin kynases receptors(RTKs) including KIT and PDGFRA. The inhibition ofthis activity has been regarded as the primary target forthe treatment of these patients. Diagnosis of GIST relieson c-KIT inmunoreactivity; however there is a 4-15% ofGISTs that are C-KIT negative which may lead to underdiagnosisof GISTs and possible withholding of therapy.The novel gene DOG1 has been found overexpressedin GISTs and has potential as a diagnostic markerfor GISTs showing even more sensitivity (Se) and specificity(Sp) than c-KIT for the diagnosis of these tumors.In this study we compared the (Se) and (Sp) of DOG1 intypical and atypical GISTs (c-KIT positive or negative)with c-KIT and other mesenchymal neoplasms in thedifferential diagnosis of GISTsWe examined 40 GIST (39 showed inmunoreactivityfor c-KIT and one was c-KIT negative) and anotherseven fusiform tumors. An inmunohistochemical panelwas performed with c-KIT, CD34, smooth muscle actin,DOG1 and S100 antibodies on both types of neoplasms.The overall Se and Sp of DOG1 and KIT in GISTswere nearly identical: 100 and 97,5%. Negativity forDOG1 was observed in all fusiform mesenchymal neoplasms.DOG1 is highly expressed in GIST and its expressionseems quite specific for these tumours when thedifferential diagnosis includes another mesenchymalneoplasms.DOG1 should be added to the diagnostic panel evaluatingGISTs(AU)

Malformación adenomatoidea quística pulmonar: actualización de la entidad a propósito de cinco casos / Cystic adenomatoid malformations of the lung: presentation of 5 cases and review

Presentamos una serie de cinco casos de malformación adenomatoideaquística pulmonar, recogidos en el período 1994-2006. Es una entidad poco frecuente (aproximadamente 400 casos publicados)que tiene características morfológicas de inmadurez pulmonar. Todos los pacientes estudiados fueron tratados quirúrgicamente en nuestro centro. Revisamos la evolución del proceso, los hallazgos histológicos, la clasificación actual de la entidad y los aspectos más novedosos del diagnóstico y tratamiento quirúrgico prenatal. Tres de nuestros pacientes eran varones, recién nacidos a término, y los otros dos pacientes eran niñas, de 3 y 9 años. En todos ellos los hallazgos radiológicos mostraban imágenes quísticas limitadas a un lóbulo, ocupados por aire o por líquido. Tras la lobectomía en el estudio histológico, cuatro de ellas fueron clasificadas como tipo 2 de la clasificación de Stoker y una (la paciente de más edad) como tipo 1 (AU)

We describe five cases of cystic adenomatoid malformations of the lung collected from our files from 1994 to 2006. It is an unusual malformation and has features of immaturity with less than 400cases previously published. All patients were surgically treated in our institution. We review the clinical outcome, microscopic findings, current classification schemes and prenatal surgical treatment. Our study includes 3 new-born males and two girls, 3 and 9 years old. All of them radiographically showed air or fluid filled cystic masses involving a single lobe. After lobectomy, four lung specimens were classified as Stoker type 2 lesions and the older one as type 1 (AU)

[Metanephric stromal tumor: report of two cases and bibliographic review]. / Tumor del estroma metanéfrico: presentación de dos casos en adultos y revisión de la literatura.

OBJECTIVE: Metanephric Stromal Tumors (MST) are pediatric renal neoplasms not very common in adults. This study revises its classification, incidence and evolution and also some specific characteristics of the cases diagnosed in adults. METHODS: We present two cases of MST diagnosed in adults of 72 and 77 years old respectively. Abdominal pain due to a more than 4 Kg. mass was the initial presentation in both cases. The tumors were completely resected. Four and ten years after excision patients are alive without disease. RESULTS: Characteristic histologic features include a proliferation of fusocellular cells with alternating cellularity that imparts a nodular appearance and onion-skin cuffing around entrapped renal tubules or vascular structures. No mitoses or atypia was found but extensive necrosis and fibrosis were present. A majority of stromal cells were vimentine and CD-34 positive. Stains for CK and EMA highlighted entrapped native tubules. Both cases were previously classified as mesoblastic nephromas. According to the 2002 ONS classification of tumours of the urinary system, they have been revised and re-classified as MST CONCLUSION: MST are pediatric benign tumors exceptionally diagnosed in adults. Metanephric stromal tumors are divided into 3 categories based on the presence of epithelial cells, stroma and epithelial cells plus stromal. Complete excision is the treatment of choice and the prognosis is excellent.

[Inflammatory bowel disease and amyloidosis]. / Enfermedad inflamatoria intestinal y amiloidosis.

Secondary (AA) amyloidosis is a rare but serious complication of longstanding inflammatory bowel disease that can affect the patient's prognosis more than the underlying disease. Although early diagnosis of this complication is becoming more frequent, its effective treatment continues to pose a challenge to the clinician. We present two cases of Crohn's disease complicated by secondary amyloidosis after two years, and describe their outcome.

[Colonic spirochetes: an infrequent cause of adult diarrhea]. / Espiroquetosis colónica: una causa poco frecuente de diarrea en el adulto.

Large intestine infection due to spirochetes was described in 1967 and is mainly related to two pathogens, Serpulina pilosicoli and Brachyspira aalborgi. Clinically, infection presents as diarrhea and/or rectorrhagia and is more frequent among homosexuals. Its prevalence is difficult to estimate but significant differences have been described according to the socioeconomic level of the area studied. We describe three cases of diarrhea due to spirochetes, which are of interest due to the lack of published cases in Spain. Based on these cases, we describe the main characteristics (morphological, therapeutic, etc.) of this infection.

Presentación sincrónica de papiloma invertido con foco de carcinoma transicional en pelvis renal derecha y carcinoma urotelial vesical / Synchronous presentation of inverted papilloma and transitional cell carcinoma of the right renal pelvis associated to urothelial carcinoma of the bladder

Presentamos un caso de asociación sincrónica de papiloma invertido (P.I) con foco de carcinoma transicional en pelvis renal derecha (pT 2 G 1 ) y carcinoma urotelial en pared lateral izquierda de vejiga (T 1 G 2 ).El papiloma invertido urotelial es un tumor poco frecuente, generalmente benigno que constituye el 2,2 por ciento de los tumores uroteliales. Aunque su localización más frecuente es la vesical (90 por ciento), y dentro de ella en trígono y cuello, también puede aparecer en T.U.S "tracto urinario superior" (7-8 por ciento) o en uretra (3 por ciento).Aconsejamos un seguimiento cercano tras su tratamiento conservador ya que existe la posibilidad de recidivas y asociación a carcinoma transicional tanto de forma sincrónica como asincrónica (AU)

[Synchronous presentation of inverted papilloma with transitional carcinoma focus in right kidney pelvis and bladder urothelial carcinoma]. / Presentación sincrónica de papiloma invertido con foco de carcinoma transicional en pelvis renal derecha y carcinoma urotelial vesical.

We report a case with synchronous presentation of inverted papilloma (I.P) and transitional cell carcinoma of the right renal pelvis (pT2G1) associated to urothelial carcinoma on left lateral wall of the bladder (T1G2). Urothelial inverted papilloma is an uncommon, generally benign tumor that account for 2.2% of all urothelial tumors. Although the preferred location is the bladder (90%), above all in trigone and bladder neck, also can be located at the UUT "upper urinary tract" (7-8%) and urethra (3%). A close follow-up is recommended after conservative therapy, mainly endoscopic procedure, due to likelihood of recurrence and synchronous or metachronous association with transitional cell carcinoma.