RESUMO
BACKGROUND/AIM: Cholangioblastic variant of intrahepatic cholangiocarcinoma (CVICC) is an exceedingly rare primary biliary tract tumor and typically occurs in young patients with a median age of 24.5-year-old. It can mimic metastatic well-differentiated neuroendocrine tumors in the liver with its similar histologic and immunophenotypic features. CASE REPORT: We hereby report a CVICC in a 68-year-old female patient with distinctive biphasic cytologic features. The patient was diagnosed and treated as a metastatic well differentiated neuroendocrine tumor. The recurrent liver tumor was resected and the tumor cells were strongly positive for Inhibin A and cytokeratin 19 (CK19), focally and weakly positive for synaptophysin and chromogranin, and negative for Insulinoma associated protein 1 (INSM1). Ribonucleic acid (RNA) sequencing showed that the tumor bared a characteristic Nipped-B-like protein (NIPBL)-Nucleus accumbens-associated protein 1 (NACC1) gene fusion. CONCLUSION: To the best of our knowledge, this is the first documented case in an elder patient of this entity with NIPPL-NACC1 gene fusion. Acknowledgment of the biphasic cytology, screening with Inhibin A in suspicious cases, and coupled with a molecular study may facilitate accurate classification of this aggressive tumor and lead to proper clinical management.
Assuntos
Neoplasias dos Ductos Biliares , Colangiocarcinoma , Neoplasias Hepáticas , Feminino , Humanos , Idoso , Adulto Jovem , Adulto , Sinaptofisina/metabolismo , Queratina-19/metabolismo , Cromograninas/metabolismo , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Colangiocarcinoma/genética , Colangiocarcinoma/cirurgia , Colangiocarcinoma/diagnóstico , Neoplasias Hepáticas/patologia , Neoplasias dos Ductos Biliares/genética , Neoplasias dos Ductos Biliares/cirurgia , Neoplasias dos Ductos Biliares/metabolismo , Ductos Biliares Intra-Hepáticos/patologia , RNA/metabolismo , Proteínas Repressoras/metabolismo , Proteínas de Ciclo Celular/metabolismo , Proteínas de Neoplasias/metabolismoRESUMO
OBJECTIVES: The National Cancer Institute (NCI) National Clinical Trials Network performs phase II and III clinical trials, which increasingly rely on the submission of diagnostic formalin-fixed, paraffin-embedded tissue blocks for biomarker assessment. Simultaneously, advances in precision oncology require that clinical centers maintain diagnostic specimens for ancillary, standard-of-care diagnostics. This has caused tissue blocks to become a limited resource for advancing the NCI clinical trial enterprise and the practice of modern molecular pathology. METHODS: The NCI convened a 1-day workshop of multidisciplined experts to discuss barriers and strategic solutions to facilitate diagnostic block submission for clinical trial science, from the perspective of patient advocates, legal experts, pathologists, and clinical oncologists. RESULTS: The expert views and opinions were carefully noted and reported. CONCLUSIONS: Recommendations were proposed to reduce institutional barriers and to assist organizations in developing clear policies regarding diagnostic block submission for clinical trials.
Assuntos
Ensaios Clínicos como Assunto , Técnicas Histológicas , Manejo de Espécimes , Humanos , National Cancer Institute (U.S.) , Inclusão em Parafina , Fixação de Tecidos , Estados UnidosRESUMO
STUDY OBJECTIVE: To evaluate the ability of narrow band imaging (NBI) in conjunction with standard white light imaging to improve the detection and diagnosis of endometriosis during laparoscopic evaluation compared with white light imaging alone. Sensitivity of NBI in detecting endometriosis was assessed and compared with white light imaging. DESIGN: Randomized controlled trial. CLASSIFICATION OF STUDY DESIGN: LEVEL I: Evidence obtained from a properly designed, randomized, controlled trial. SETTING: The trial was conducted in 2 medical centers. PATIENTS: One hundred sixty-seven women undergoing laparoscopic evaluation for suspected endometriosis and/or infertility were recruited. Of these, 150 were assessable to determine sensitivity of NBI compared with white light imaging for the detection of endometriotic lesions. INTERVENTIONS: Patients were randomized in a 3:1 ratio to receive white light imaging followed by NBI or white light imaging only. The pelvis was systematically visualized with each assigned imaging modality; lesions were recorded under each visualization and then resected. All patients had white light imaging on the first visualization followed by either a second white light examination (control arm) or NBI examination (intervention arm). MEASUREMENTS: Pathology of resected lesions was the criterion standard for evaluating sensitivity and was conducted at each institution. The method of detection of the lesion (white light or NBI) was masked. Central pathology review was conducted for a randomly selected 10% sample of specimens and for those lesions visualized under only 1 imaging modality among patients assigned to the intervention arm. The sensitivity was assessed for each modality (white light and NBI) and compared using a McNemar's test. MAIN RESULTS: Among the group randomized to receive both white light and NBI, 4 patients had lesions detected with NBI but no lesions detected with white light. Among the 255 lesions confirmed as endometriosis by pathologic review, all were detected by NBI for a sensitivity of 100%; 79% were detected by white light imaging (p < .001). CONCLUSION: The addition of NBI to white light imaging increased the number of endometriotic lesions identified during laparoscopy and the diagnosis of endometriosis compared with the use of white light imaging alone.
Assuntos
Endometriose/diagnóstico , Laparoscopia , Imagem de Banda Estreita , Imagem Óptica , Adulto , Feminino , Humanos , Illinois/epidemiologia , Aumento da Imagem , Maryland/epidemiologia , Procedimentos Cirúrgicos Minimamente Invasivos , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: Endometriosis-associated ovarian cancer arising from the surgical incision site is an unusual clinical entity. CASE: A 37-year-old woman presented with a chief complaint of progressive swelling of the mons pubis. The patient was status post laparotomy for endometrioma/endometriosis 10 years ago. MRI showed a heterogeneous multiseptated large cystic mass within the mons pubis measuring 14 x 13.4 x 10.6 cm. Initial cytoreductive surgery revealed no evidence of tumor in the peritoneal cavity. The surgery was suboptimal due to severe adhesions to the symphysis pubis. The secondary cytoreductive surgery performed after six cycles of taxotere and carboplatin was optimal. Macroscopically, the tumor was a dusky pink-purple and contained a dense white-gray to light yellow gelatinous area. The tumor was a malignant cystic and glandular neoplasm. Immunohistochemical stains included CK7(+), CK5/6(-), EMA(+), Ber-Ep4(+), Calretinin(-), ER(-), and PR(-). CONCLUSION: Primary peritoneal clear cell adenocarcinoma arising from an abdominal scar associated with prior endometrioma/endometriosis surgery was first reported.