Using Bronchoscopic Lung Cryobiopsy and a Genomic Classifier in the Multidisciplinary Diagnosis of Diffuse Interstitial Lung Diseases.

BACKGROUND: Challenges remain for establishing a specific diagnosis in cases of interstitial lung disease (ILD). Bronchoscopic lung cryobiopsy (BLC) has impacted the diagnostic impression and confidence of multidisciplinary discussions (MDDs) in the evaluation of ILD. Reports indicate that a genomic classifier (GC) can distinguish usual interstitial pneumonia (UIP) from non-UIP. RESEARCH QUESTION: What is the impact of sequentially presented data from BLC and GC on the diagnostic confidence of MDDs in diagnosing ILD? STUDY DESIGN AND METHODS: Two MDD teams met to discuss 24 patients with ILD without a definitive UIP pattern. MDD1 sequentially reviewed clinical-radiologic findings, BLC, and GC. MDD2 sequentially reviewed GC before BLC. At each step in the process the MDD diagnosis and confidence level were recorded. RESULTS: MDD1 had a significant increase in diagnostic confidence, from 43% to 93% (P = .023), in patients with probable UIP after the addition of GC to BLC. MDD2 had an increase in diagnostic confidence, from 27% to 73% (P = .074), after the addition of BLC to GC. The concordance coefficients and percentage agreement of categorical idiopathic pulmonary fibrosis (IPF) and non-IPF diagnoses were as follows: GC vs MDD1: 0.92, 96%; GC vs MDD2: 0.83, 92%; BLC1 vs MDD1: 0.67, 83%; BLC2 vs MDD2: 0.66, 83%. INTERPRETATION: GC increased diagnostic confidence when added to BLC for patients with a probable UIP pattern, and in appropriate clinical settings can be used without BLC. In contrast, BLC had the greatest impact regarding a specific diagnosis when the likelihood of UIP was considered low following clinical-radiographic review.

A 56-Year-Old-Man With Common Variable Immunodeficiency and Worsening Dyspnea.

CASE PRESENTATION: A 56-year-old man with a history of common variable immunodeficiency (CVID), in addition to recurrent bronchitis and pneumonia, presented with progressively worsening shortness of breath over a period of a few months. He was able to conduct his activities of daily living at baseline; however, his condition declined over a period of months to the point of shortness of breath with climbing a flight of stairs. The patient also developed a frequent dry cough and wheezing. He denied fever, chest pain, weight loss, and hemoptysis. He had been diagnosed with CVID in 1968, at 7 years of age, after recurrent episodes of bronchitis and pneumonia, and was treated with IV immunoglobulin monthly for decades. The patient was a lifelong nonsmoker and had no significant environmental or occupational exposures. He was referred to our hospital for further management.

An ectopic intrathyroidal thymic tissue and intrathymic parathyroid tissue in a patient with Graves disease.

Ectopic intrathyroidal thymic tissue, with coinciding intrathymic parathyroid tissue, is a very rare occurrence that is most often found incidentally in adults during surgery. We report a 23-year-old female who presented with Graves disease refractory to medical treatment. Radioactive iodine uptake demonstrated increased, diffuse uptake in the region of the thyroid. The patient underwent a total thyroidectomy and right inferior parathyroidectomy which was found enlarged intraoperatively. Histopathologically, surgical specimen demonstrated characteristics of intrathyroidal thymic tissue and intrathymic parathyroid tissue. Intrathyroidal thymic tissue can be identified preoperatively on ultrasonography, but the significance of this finding is unknown.

Gastric Adenocarcinoma of the Fundic Gland Type Treated by Endoscopic Mucosal Resection: A Case Report and Review of the Literature.

Gastric adenocarcinoma of the fundic gland type (GA-FG) is a rare entity that has only recently been described and defined. There is ongoing controversy regarding the malignant potential of this lesion. We report the case of a GA-FG in a 49-year-old Caucasian man who was referred to endoscopy for management of an incidentally found gastric polyp. Endoscopy showed a single polypoid lesion in the gastric fundus which was successfully removed with endoscopic resection. Grossly, the polyp measured 1.1 cm in greatest dimension. Microscopic examination showed irregularly branched neoplastic glands covered with a nonneoplastic foveolar epithelium. The continuity between the neoplastic glands and the fundic glands is clearly identified, indicating the tumor arose from the fundic glands. The tumor cells exhibited occasional oxyntic cytoplasm with enlarged atypical nuclei. The tumor invaded the submucosa with complete disruption of the muscularis mucosae and mild lymphocytic and fibroblastic stromal reaction. No necrosis, mitosis, or lymph-vascular invasion was identified. Although some authors have proposed reclassification of GA-FGs as oxyntic gland polyps/adenomas, in light of several reported cases with submucosal invasion as well as lymphatic invasion, we maintain that this neoplasm is best categorized as an extremely well-differentiated adenocarcinoma to reflect its invasive potential.

Rare primary mucosal melanoma of the larynx.

Few cases of primary mucosal melanoma of the larynx have been documented in the literature, so only a limited amount of data exists regarding its diagnosis and treatment. The prognosis is poor, as patients often present at a late stage with regional or distant metastases. We describe the case of a 66-year-old man who presented with hoarseness and dysphagia. Laryngoscopy identified a dark discoloration of the supraglottic larynx and incomplete mobility of the right vocal fold; an excisional biopsy confirmed the diagnosis. We discuss the epidemiology, clinical features, diagnosis, interpretation of imaging findings, and management of this rare malignant melanoma.

39-YEAR-OLD FEMALE WITH MILD RESPIRATORY DISTRESS AND HYPOXIA.

The diagnosis of cryptogenic organizing pneumonia is usually delayed for several weeks due to treatment for presumed infectious pneumonia. We present a case of cryptogenic organizing pneumonia in a 39-year-old female who presented with shortness of breath and cough. She had both rapid clinical and radiological response to treatment with corticosteroids.

Phenytoin-Associated Granulomatous Pulmonary Vasculitis.

Phenytoin was introduced in 1938 for the control of seizure disorders and remains widely used today. Since that time, many cases of phenytoin-induced allergic reactions and clinical pulmonary disease have been reported. However, pulmonary vascular pathology from phenytoin use has been only very rarely described. We report a case of phenytoin-associated vasculitis in a 39-year-old African American man presenting with progressive dyspnea and abnormal chest imaging. The importance of reviewing the medication history along with familiarity with the array of drug-associated lung diseases is crucial to recognize and treat pneumotoxicity.

Pelvic pleomorphic rhabdomyosarcoma presenting as oliguria in a 61-year-old woman.

Rhabdomyosarcomas (RMSs) are malignant soft-tissue tumors arising from skeletal muscle progenitor cells. They are most commonly diagnosed in children and adolescents and are rare in adults. These tumors arise from a variety of anatomical sites, including the head and neck, urogenital tract, and extremities. Classification of RMSs depends on histopathologic and immunohistochemical features. Embryonal and alveolar subtypes are more common in children and adolescents, whereas the pleomorphic subtype is seen almost exclusively in adults. Adult RMS is associated with poor outcomes and high recurrence rate. Because of the low incidence of adult RMS, most published reports of RMS in adults are either case series or retrospective analyses, and most treatment protocols are extrapolated from clinical trials performed in children. The present report describes a 61-year-old woman with RMS whose presentation included atypical symptoms.

Calvarial plasmacytoma, an unusual manifestation of multiple myeloma.

The case presented is that of a 63-year-old female with an unusually large solitary calvarial plasmacytoma as an initial manifestation of a multiple myeloma. We were able to follow the progression of the disease clinically and with diagnostic imaging.

Ectopic secretion of parathyroid hormone in a neuroendocrine tumor: a case report and review of the literature.

Very few cases have been reported in which the production and secretion of intact PTH by a non-parathyroid tumor has been authenticated. This paper describes the case of a 73 year old white female with a clinical and biochemical profile characteristic of primary hyperparathyroidism. Sestamibi scan and comprehensive neck ultrasono-graphy failed to localize a cervical lesion. Because the clinical manifestations were striking, neck exploration was performed. Dissection of the central compartment identified a lesion. PTH levels dropped to normal within ten minutes after its removal. Intraoperative parathyroid hormone assays facilitated the successful surgical removal of the lesion. Pathological examination yielded a diagnosis of a neuroendocrine tumor. These results document the ectopic production of intact PTH by a neuroendocrine tumor and present a novel neoplastic cause of primary hyperparathyroidism. This is the second report of an ectopic neuroendocrine tumor in the head and neck which secreted intact PTH.

Black thyroid associated with thyroid carcinoma.

Objective. Black thyroid is a rare pigmented change seen almost exclusively in patients upon minocycline ingestion, and the process has previously been thought to be generally benign. There have been 61 reported cases of black thyroid. We are aware of 13 cases previously reported in association with thyroid carcinoma. This paper reports six patients with black thyroid pigmentation in association with thyroid carcinoma. Design. The medical records of six patients who were diagnosed with black thyroid syndrome, all of whom underwent thyroid surgery, were reviewed. Data on age, gender, race, preoperative fine needle aspiration biopsy (FNA), thyroid function levels, and pathology reports were collected. Main Outcome. The mean age was 60 years. There were 5 females, 4 of whom were African American. All patients were clinically and biochemically euthyroid. Black pigmentation was not diagnosed in preoperative FNA, and only one patient had a preoperative diagnosis of papillary thyroid carcinoma. The other patients underwent surgery and were found to have black pigmentation of the thyroid associated with carcinoma. Conclusions. FNA does not diagnose black thyroid, which is associated with thyroid carcinoma. Thyroid glands with black pigmentation deserve thorough pathologic examination, including several sections of each specimen.

Splenic papillary angioendothelioma in a 6-year-old girl.

Papillary angioendothelioma is a rare, low-grade neoplasm of lymphatic channels that usually presents intradermally. We report the case of a 6-year-old girl with isolated splenomegaly and symptoms of early satiety and weight loss, whom was found to have a splenic papillary angioendothelioma. Preoperative abdominal computed tomography scan showed an irregular, heterogeneous mass; a tagged red cell scan ruled out a hemangioma, whereas a positron emission tomography scan showed mildly increased uptake. Subsequent surgery and pathologic assessment revealed a papillary angioendothelioma (Dabska tumor) within lymphatic spaces. The child has no evidence of recurrence or metastases 1 year postoperatively.