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Biomedical subjects

Edward J Gutmann

Publications and source records attributed to Edward J Gutmann.

6 recordsLinked to original sources

Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing.

The sensitivity of conventional DNA sequencing in tumor biopsies is limited by stromal contamination and by genetic heterogeneity within the cancer. Here, we show that microreactor-based pyrosequencing can detect rare cancer-associated sequence variations by independent and parallel sampling of multiple representatives of a given DNA fragment. This technology can thereby facilitate accurate molecular diagnosis of heterogeneous cancer specimens and enable patient selection for targeted cancer therapies.

Base Sequence↗

Barrett's esophagus with high-grade dysplasia simulating metastatic adenocarcinoma in a fine needle aspiration biopsy.

An endoscopic ultrasound examination, performed to rule out invasive esophageal carcinoma in a patient with a history of Barrett's esophagus with high-grade dysplasia, disclosed an enlarged paraesophageal lymph node which was aspirated. The aspirate contained markedly atypical clustered large cells that displayed prominent nucleoli and mitoses, as well as lymphoid cells, suggestive of adenocarcinoma metastatic to a lymph node. The neoplastic-appearing cells were, in fact, dysplastic glandular cells that the needle traversed en route to a reactive lymph node. The case represents a rare instance in which Barrett's esophagus with high-grade dysplasia was discerned on fine needle aspiration (FNA) biopsy and highlights a potential pitfall in FNA.

Adenocarcinoma↗

Initial diagnosis of breast cancer via cytological examination of a pleural effusion: a rare event facilitated by recognition of an unusual morphological pattern.

It is uncommon for breast carcinoma to present as a malignant serous effusion. Here, we describe a case in which the initial diagnosis of an occult invasive ductal carcinoma of the breast was made via cytological examination of a pleural effusion. Recognition of a cribriform architecture with intraluminal necrosis and microcalcifications in a cell block preparation was critical in making that diagnosis. To our knowledge, this specific morphological pattern of breast carcinoma in a cell block preparation from an effusion has not been reported previously.

Adenocarcinoma↗

Lymphangioma of the posterior mediastinum in an adult: diagnosis via cytopathologist-assisted fine-needle aspiration biopsy with cell block.

Lymphangiomas are uncommon in the posterior mediastinum. We report a case of a lymphangioma in this location that was diagnosed by computed tomographic-guided fine-needle aspiration biopsy. The cell block of the lesion closely simulated a normal structure immediately adjacent to the target and could have been misdiagnosed as "normal tissue." On-site evaluation of the aspirate by a cytopathologist promoted pathologist-radiologist communication that helped prevent the potential error and facilitated making the correct diagnosis in the case.

Biopsy, Fine-Needle↗