Colorectal serrated adenocarcinoma shows a different profile of oncogene mutations, MSI status and DNA repair protein expression compared to conventional and sporadic MSI-H carcinomas.

Molecular characterization has been extensively studied in serrated polyps but very little is known in serrated adenocarcinomas (SACs). We analyzed the incidence of KRAS, BRAF and PIK3CA mutations, microsatellite instability (MSI) status and loss of the DNA repair proteins MLH1, MSH2, MSH6 and MGMT in a series of 89 SAC, 81 matched conventional carcinomas (CC) and 13 sporadic colorectal cancer showing histological and molecular features of high-level MSI (sMSI-H). Our results demonstrate that KRAS are more prevalent than BRAF mutations in SAC (42.7% vs. 25.8%; p = 0.011) being the KRAS-mutated cases even more abundant in SAC displaying adjacent serrated adenomas (51%). G12D and E545K are the most common KRAS and PIK3CA mutations found in SAC, respectively. SAC show higher frequency of MGMT loss compared to CC (50.6% vs. 25.3%; p = 0.001) especially in distal colon/rectum (60.0% vs. 21.6%; p = 0.0009). SAC differ from sMSI-H in terms of KRAS and BRAF mutation prevalence, MSI status and MLH1 expression (p = 0.0003, p < 0.0001, p < 0.0001, p < 0.001, respectively). SACs are more often KRAS-mutated and microsatellite stable and display different molecular and immunohistochemical characteristics compared to CC and sMSI-H.

Immunohistochemical evaluation of ProEx C in human papillomavirus-induced lesions of the cervix.

AIMS: Considering the sparse information about the clinical utility of the novel immunohistochemical marker ProEx C in histological sections, a decision was taken to study the pattern of ProEx C expression in normal/benign cervical epithelium (N/B), low-grade squamous intraepithelial lesion (LGSIL) and high-grade squamous intraepithelial lesion (HGSIL), as well as the association of ProEx C expression with human papillomavirus (HPV) genotypes. METHODS: 100 cervical samples, including 21 N/B cervices, 16 LGSILs, 61 HGSILs and two cervical invasive carcinomas, were obtained from conisation and hysterectomy. Surgical specimens were arranged in three tissue microarrays and stained for ProEx C. Ninety-three samples were HPV genotyped. Genotyping was performed by DNA amplification and hybridisation with genotype-specific probes on a low-density DNA array. RESULTS: ProEx C-positive expression in more than the lower third of the epithelium was observed in 14.3% of N/B, 62.5% of LGSIL and 90.2% of HGSIL. Seventy percent of HPV positivity was found in cases with expression in more than the lower third of the epithelium. Of 31 cases that were positive for HPV16, 16.1% showed ProEx C expression restricted to one or two basal layers, and 83.9% showed ProEx C expression in more than the lower third of the epithelium. CONCLUSIONS: ProEx C is significantly associated with HPV16 infection and is a useful adjunct in the identification of LGSIL and HGSIL in histological sections when expressed in more than the lower third of the epithelium.

[Schwannomas of the lingual nerve]. / Schwanoma del nervio lingual.

Schwanomas in extracranial head and neck region are an uncommon tumour, but when refered to its origin in the parasympathetic nerve fibers are extremely rare. We describe a case of schwanoma of the right submandibular gland originating from the parasympathetic branch of the lingual nerve, and we discuss about the clinical, diagnostic and therapeutic aspects of this rare tumour and a literature review of the recent cases.

Schwannoma del nervio lingual / Schwannomas of the lingual nerve

Los schwannomas de cabeza y cuello extracraneales constituyen una variedad tumoral relativamente infrecuente, pero cuando hablamos de su origen en las fibras parasimpáticas del nervio lingual se convierten en algo excepcional. Presentamos un caso de schwanoma de la región submandibular derecha originado en las ramas parasimpáticas que el nervio lingual proporciona a la glándula submaxilar, realizando una discusión acerca de los aspectos clínicos, diagnósticos y terapéuticos de esta variedad tumoral y una revisión de los casos descritos en la literatura médica reciente

Schwanomas in extracranial head and neck region are an uncommon tumour, but when refered to its origin in the parasympathetic nerve fibers are extremely rare. We describe a case of schwanoma of the right submandibular gland originating from the parasympathetic branch of the lingual nerve, and we discuss about the clinical, diagnostic and therapeutic aspects of this rare tumour and a literature review of the recent cases

[Nasoalveolar cyst. Five new cases]. / Quistes nasoalveolares. Presentación de 5 nuevos casos.

Nasoalverolar cyst are nonodontogenic maxillary cysts, rare and benign, which are more common in females and blacks. Their diagnosis can be established mainly on the clinical presentation, being usually asymptomatic during several years until they are large enough to cause cosmetic deformities and/or nasal obstruction, with asymmetrical alar flare. The treatment of choice is the complete surgical excision via a sublabial approach. Five cases diagnosed and treated at the Santa Maria del Rosell Hospital are reported, describing the most relevant clinican and pathological findings, so the diagnostic ant therapeutic methods.

Quistes nasoalveolares. Presentación de 5 nuevos casos / Nasoalveolar cyst. Five new cases

Inverted papilloma is a benign sinonasal tumour with a high recurrence rate and its treatment must be surgery, using endonasal surgery or external aproach. We present a retrospective study of 23 cases treated in our center from 1988 to 2003. There 15 males and 8 females with a mean follow-up of 6 years. The recurrence rate was 40,9%. Patients who underwent endonasal surgery had a recurrence rate of 36,6% and those who underwent external approach surgery had a recurrence rate of 45,5%. There was a 4,5% of association with carcinoma. Endonasal surgery might be a valid surgery approach for the treatement of inverted papilloma in select cases

Nasoalveolar cyst are nonodontogenic maxillary cysts, rare and benign, which are more common in females and blacks. Their diagnosis can be established mainly on the clinical presentation, being usually asymptomatic during several years until they are large enough to cause cosmetic deformities and/or nasal obstruction, with asummetrical alarflare. The treatment of choice is the complete surgical excision via a sublabial approach. Five cases diagnosed an treated at the Santa María del Rosell Hospital are reported, describing the most relevant clinican and pathological findings, so the diagnostic and therapeutic methods

[Fibrillary and immunotactoid glomerulonephritis: report of a case and review of the literature]. / Glomerulonefritis fibrilar e inmunotactoide: descripción de un caso y revisión de la literatura.

We describe the case of a 67 year-old female with nephrotic syndrome and rapidly progressive renal failure. The nephropathy was characterized by deposits of randomly oriented fibrils with a diameter of about 18-20 nm on electron microscopy. Immunofluorescence microscopy was performed and there was no staining for immunoglobulins and complement. We diagnosed atypical fibrillary glomerulopathy with absence of immune deposits. The patient developed end-stage renal failure rapidly. We review in the literature new clinical and pathogenetic features related to fibrillary and immunotactoid glomerulopathy.

Glomerulonefritis fibrilar e inmunotactoide: descripción de un caso y revisión de la literatura / Fibrillary and immunotactoid glomerulonephritis: report of a case and review of the literature

Describimos el caso de una mujer de 67 años de edad que presentó síndrome nefrótico e insuficiencia renal rápidamente progresiva. La nefropatía se caracterizó por la evidencia a través de microscopía electrónica de depósitos de fibrillas orientadas al azar con diámetro aproximado de 18-20 nm. La inmunofluorescencia fue negativa tanto para inmunoglobulinas como complemento. La paciente fue diagnosticada de una atípica glomerulopatía fibrilar con ausencia de depósitos inmunes y evolucionó rápidamente a enfermedad renal terminal poco tiempo después. Revisamos en la literatura nuevos aspectos clínicos y patogenéticos relacionados con la glomerulopatía fibrilar e inmunotactoide

We describe the case of a 67 year -old female with nephrotic syndrome and rapidly progressive renal failure. The nephropaty was characterized by deposits of randomly oriented fibrils with a diameter of about 18-20 nm on electron microscopy. Immunofluorescence microscopy was performed and there was no staining for immunoglobulins and complement. We diagnosed atypical fibrillary glomerulopathy with absence of immune deposits. The patient developed end-stage renal failure rapidly. We review in the literature new clinical and pathogenetic features related to fibrillary and immunotactoid glomerulopathy

On the utility of fine-needle aspiration in the diagnosis of primary scalp lesions.

A study of the clinico-cytologic findings of 62 primary palpable lesions located in the scalp is reported. Trichilemmal cyst (16 cases) followed by lipoma (8 cases) and benign melanocytic proliferation (4 cases) were the most frequent benign conditions (n = 45); basal-cell carcinoma (6 cases) and squamous-cell carcinoma (5 cases) were the most frequently aspirated malignant tumors (n = 17). In the cytologic category of benign lesions (n = 45), cytohistologic correlation was carried out in 19 cases and the cytohistologic agreement was 100%, except for the three actinic keratosis cases that were diagnosed as atypical epidermal lesions. Cytohistologic agreement was 100% in the 16 malignant lesions in which excisional biopsy was performed. Based on the findings reported here, fine-needle aspiration is indicated as the first-choice technique for the clinical evaluation of primary scalp lesions. Experience with cutaneous cytopathology is essential in order to be able to carry out this task.

On the utility and limitations of fine-needle aspiration of palpable lesions located in the hand.

Various types of superficial and deep-seated lesions may occur in the hand, causing concern to the patient and posing diagnostic dilemmas to the clinician. A study was undertaken to evaluate the utility of fine-needle aspiration (FNA) or scraping for the diagnosis of palpable lesions located in the hand. From a clinico-cytologic point of view, lesions were classified as superficial (n = 41) or deep-seated (n = 66), and aspirates were categorized into five groups: benign without specific cytohistologic diagnosis, benign with specific cytohistologic diagnosis, atypical, malignant without specific cytohistologic diagnosis, and malignant with specific cytohistologic diagnosis. Out of 107 cases with aspirates adequate for cytologic evaluation, 85 had histologic correlation; in 22 cases, histologic confirmation was deemed unnecessary because of unequivocal cytologic findings and/or clinical workup. Sensitivity was 90.9%, specificity 100%, and efficacy 98%. Based on these findings, we believe that FNA or scraping may help in the clinical workup of patients with either superficial or deep-seated lesions located in this anatomic region.

Necrólisis epidérmica tóxica en relación con nevirapina / Toxic epidermal necrolysis related to nevirapine

No disponible

Punción aspiración con aguja fina de nódulos cutáneos y subcutáneos metastásicos / Fien neddle aspiration of metastatic cutaneous and subcutaneous nodules

Hemos estudiado los hallazgos clinicocitológicos de 142 nódulos cutáneos y subcutáneos metastásicos pertenecientes a 142 pacientes, por medio de punción aspiración con aguja fina (PAAF); de estos, 76 tenían antecedentes de neoplasia primaria. En 120 pacientes se dispuso de la histología del tumor primario. Las localizaciones más frecuentes de los nódulos cutáneos y subcutáneos metastásicos fueron el torax y el abdomen (61,9 por ciento), y de los tumores primarios, el pulmón (25,3 por ciento) y la piel (16,2 por ciento). con base en el patrón citoarquitectural dominante los aspirados fueron clasificados en seis categorías: adonocarcinoma (n=75), carcinoma escamoso (n=34), linfoma (n=6), melanoma (n=18), célula pequeña (n=8) y sarcoma (n=1). El patrón citoarquitectural más frecuente fue el de adenocarcinoma (52,8 por ciento). En los 120 casos en los cuales se efectuó correlación entre los hallazgos citológicos de los aspirados de los nódulos cutáneos y subcutáneos metastásicos y la histología del tumor primario la sensibilidad fue del 100 por ciento y el valor predictivo de un resultado positivo, también del 100 por ciento. De acuerdo con nuestras observaciones, la PAAF de los nódulos cutáneos y subcutáneos metastásicos es una técnica útil por su gran sensibilidad, rapidez de diagnóstico y bajo coste, y sirve de ayuda al clínico en el tratamiento de los pacientes con cáncer (AU)

Cytologic aspect of fibrolamellar hepatocellular carcinoma in fine-needle aspirates.

This is a review of the cytologic and clinicopathological findings seen in a series of six fibrolamellar hepatocellular carcinomas (FL-HCC) studied by means of fine-needle aspiration (FNA). A comparison of several cellular measurements (cell, nuclear and nucleolar sizes, and N/C ratios) of FL-HCC, ordinary hepatocellular carcinoma (O-HCC), and normal hepatocytes was also carried out in order to find out if these figures could be of help in the cytologic diagnosis. Aspirates were made up of a rather monotonous population of large discohesive cells resembling the morphology of the oncocytes seen in thyroid aspirates; trabecular arrangement of tumor cells was not observed. Cytoplasmic pale bodies and hyaline cytoplasmic bodies were seen in variable quantities. Microbiopsies displaying the fibrolamellar pattern were observed in four cases. FL-HCC individual tumor cells were larger than individual O-HCC tumor cells (P < 0.001), as were nuclear (P < 0.007) and nucleolar sizes (P < 0.001), but N/C ratio of O-HCC was higher than the N/C ratio of FL-HCC (P < 0.005). Based on the findings, a single cell aspirated from an FL-HCC is three times the size of a normal hepatocyte and 1.60 times the size of a single cell aspirated from a well-differentiated O-HCC. The cytologic findings of FL-HCC are very characteristic and permit a correct diagnosis of this liver malignancy, provided the cytopathologist is aware of the clinical, demographic, CT-image, biochemical, and pathological features of this neoplasm. Diagn. Cytopathol. 21:180-187, 1999.

On the limited value of fine-needle aspiration for the diagnosis of benign melanocytic proliferations of the skin.

This a retrospective study of 39 patients with pigmented cutaneous lesions with a subsequent histologic diagnosis of melanocytic neoplasia. The most important cytologic features seen in the fine-needle aspirates were assessed in the 26 cases deemed satisfactory for evaluation. Though cytology, along with essential clinical data, could enable a general diagnosis of melanocytic lesion and could differentiate it from other nonmelanocytic pigmented lesions, cytology could not provide a precise diagnosis of the different histologic types of benign melanocytic nevi, nor could it enable their differentiation from dysplastic melanocytic nevi or incipient malignant melanoma.

Fine needle aspiration (FNA) of testicular germ cell tumours; a 10-year experience in a community hospital.

A retrospective reappraisal is made of the smears of 29 testicular germ cell tumors (TGCT) studied by FNA in which both orchiectomy specimens and histologic diagnoses were available. In 22 cases (75.86%) the yield was sufficient and contained cells suitable for cytologic diagnosis; in these 22 cases a diagnoses of malignancy was reached. In four cases (13.79%) the yield was sparse and a diagnostic cells were partially obscured by haemorrhage and necrosis; these cases were categorized as suspicious of malignancy. In these cases (10.34%) the yield was not suitable for cytologic evaluation because haemorrhage and necrosis hampered evaluation of diagnostic cells. The cytologic findings that enable a reliable diagnosis of TGCT are described and those cytologic features that may lead the less experienced cytopathologist into an erroneous diagnosis are discussed. Pure TGCT can be confidently diagnosed with FNA and mixed TGCT can be successfully diagnosed, although it is difficult to recognized every cytologic subtype observed in the histologic sections. Despite the advantages of FNA for the prompt diagnosis of TGCT, FNA can not fully replace the histologic diagnosis and should rather be considered as a helpful tool in the work-up of testicular tumours.

Basal-cell carcinoma: cytologic and immunocytochemical findings in fine-needle aspirates.

The smears of fine-needle aspirates corresponding to 137 histologically proven basal-cell carcinomas (BCCs) were reviewed. Satisfactory for evaluation were 127 smears; the remaining 10 were unsatisfactory. In 124 cases (97.6%), the cytologic diagnoses coincided with the histologic ones. The remaining 3 were false negatives, and the subsequent histologic correlation demonstrated superficial BCC missed by the needle. The cytologic criteria that permitted a diagnosis of BCC were: variable-sized and irregular-shaped cohesive epithelial clusters, round to oval monomorphic nuclei, bland chromatin pattern, and sparse cytoplasm. In 35 cases, a panel of antibodies was used in the smears and in the respective histologic sections. Epithelial clusters of BCC showed an intense and diffuse positivity for AE-3 and BerEP4, while UEAI and AE-1 were negative. Although HMB45 and S100-A tested negative in the epithelial clusters, a faint and sparse focal positivity for HMB45 and S-100A was seen in some clusters. This positivity is believed to correspond to just a few normal melanocytes and Langerhans cells trapped in the neoplastic epithelial clusters. In the histologic correlates, the same results were obtained, although HMB45 positivity was more conspicuous at the periphery of the neoplastic nests.