Victorine V. Muse

TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex

Background: Lymphangioleiomyomatosis (LAM) is a prominent finding in the setting of tuberous sclerosis complex (TSC). Objective: The present study was designed to compare cystic lung changes consistent with LAM in patients with a TSC1 disease-causing mutation, TSC2 disease-causing mutation, or no mutation identified (NMI). Methods and results: We conducted a retrospective review of the chest computed tomography (CT) of 45 female and 20 male patients with TSC and found cysts consistent with LAM in 22 (49%) women and two (10%) men. In the female population, changes consistent with LAM were observed in six of 15 (40%) patients with TSC1, 11 of 23 (48%) with TSC2, and five of seven (71%) with NMI. While the predominant size of cysts did not differ across these three groups, TSC2 women with LAM had a significantly greater number of cysts than did TSC1 patients (p = 0.010). Conclusions: These findings suggest a higher rate of LAM in TSC1 than previously recognised, as well as a fundamental difference in CT presentation between TSC1 and TSC2.

The 10 Pillars of Lung Cancer Screening: Rationale and Logistics of a Lung Cancer Screening Program

On the basis of the National Lung Screening Trial data released in 2011, the U.S. Preventive Services Task Force made lung cancer screening (LCS) with low-dose computed tomography (CT) a public health recommendation in 2013. The Centers for Medicare and Medicaid Services (CMS) currently reimburse LCS for asymptomatic individuals aged 55-77 years who have a tobacco smoking history of at least 30 pack-years and who are either currently smoking or had quit less than 15 years earlier. Commercial insurers reimburse the cost of LCS for individuals aged 55-80 years with the same smoking history. Effective care for the millions of Americans who qualify for LCS requires an organized step-wise approach. The 10-pillar model reflects the elements required to support a successful LCS program: eligibility, education, examination ordering, image acquisition, image review, communication, referral network, quality improvement, reimbursement, and research frontiers. Examination ordering can be coupled with decision support to ensure that only eligible individuals undergo LCS. Communication of results revolves around the Lung Imaging Reporting and Data System (Lung-RADS) from the American College of Radiology. Lung-RADS is a structured decision-oriented reporting system designed to minimize the rate of false-positive screening examination results. With nodule size and morphology as discriminators, Lung-RADS links nodule management pathways to the variety of nodules present on LCS CT studies. Tracking of patient outcomes is facilitated by a CMS-approved national registry maintained by the American College of Radiology. Online supplemental material is available for this article.

Case records of the Massachusetts General Hospital. Case 19-2008. A 63-year-old HIV-positive man with cutaneous Merkel-cell carcinoma.

From the Department of Radiation Oncology, Massachusetts General Hospital and Harvard Medical School (P.M.B.); the Department of Hematology–Oncology, Massachusetts General Hospital, and the Department of Medicine, Harvard Medical School ( J.R.C.); the Department of Radiology, Massachusetts General Hospital and Harvard Medical School (V.V.M.); and the Departments of Dermatology and Pathology, University of Iowa Carver College of Medicine, Iowa City (V.L.).

Dose reduction for chest CT: comparison of two iterative reconstruction techniques

Background Lowering radiation dose in computed tomography (CT) scan results in low quality noisy images. Iterative reconstruction techniques are used currently to lower image noise and improve the quality of images. Purpose To evaluate lesion detection and diagnostic acceptability of chest CT images acquired at CTDIvol of 1.8 mGy and processed with two different iterative reconstruction techniques. Material and Methods Twenty-two patients (mean age, 60 ± 14 years; men, 13; women, 9; body mass index, 27.4 ± 6.5 kg/m2) gave informed consent for acquisition of low dose (LD) series in addition to the standard dose (SD) chest CT on a 128 - multidetector CT (MDCT). LD images were reconstructed with SafeCT C4, L1, and L2 settings, and Safire S1, S2, and S3 settings. Three thoracic radiologists assessed LD image series (S1, S2, S3, C4, L1, and L2) for lesion detection and comparison of lesion margin, visibility of normal structures, and diagnostic confidence with SD chest CT. Inter-observer agreement (kappa) was calculated. Results Average CTDIvol was 6.4 ± 2.7 mGy and 1.8 ± 0.2 mGy for SD and LD series, respectively. No additional lesion was found in SD as compared to LD images. Visibility of ground-glass opacities and lesion margins, as well as normal structures visibility were not affected on LD. CT image visibility of major fissure and pericardium was not optimal in some cases (n = 5). Objective image noise in some low dose images processed with SafeCT and Safire was similar to SD images (P value > 0.5). Conclusion Routine LD chest CT reconstructed with iterative reconstruction technique can provide similar diagnostic information in terms of lesion detection, margin, and diagnostic confidence as compared to SD, regardless of the iterative reconstruction settings.

Case 33-2008: A 63-Year-Old Woman with Dyspnea on Exertion

Dr. Andrew Tinsley (Medicine): A 63-year-old woman was admitted to this hospital because of dyspnea on exertion. The patient had been in her usual state of health until approximately 3 weeks before admission, when dyspnea developed. Approximately 1 week later, she began to have tightness in the chest on exertion, as well as burning pain in the left subscapular region that radiated down the left arm and was relieved by massage therapy, acetaminophen, and ibuprofen. The dyspnea gradually increased in severity, until she became short of breath while walking up one flight of stairs or moving a lawn chair a few feet. She had a mild dry cough but no fever, chills, hemoptysis, nausea, vomiting, diaphoresis, night sweats, weight loss, anorexia, joint pain, or rashes. On the afternoon before admission, the patient went to the emergency department of another hospital because of progressive dyspnea. On examination, she appeared comfortable. She rated the subscapular pain as 3 on a scale of 0 to 10, in which 10 is the most severe. The blood pressure was 104/72 mm Hg, the pulse 105 beats per minute, the temperature 36.4°C, the respiratory rate 20 breaths per minute, and the oxygen saturation 93% while the patient was breathing ambient air. There were rales in both lungs, extending halfway up from the bases. The remainder of the examination was normal. An analysis of arterial blood while the patient was breathing ambient air revealed a pH of 7.40, a partial pressure of carbon dioxide of 38 mm Hg (reference range, 35 to 45), a partial pressure of oxygen of 69 mm Hg (reference range, 75 to 100), and a serum total carbon dioxide content of 22.5 mmol per liter (reference range, 20 to 26). Other laboratory-test results are shown in Table 1. An electrocardiogram revealed sinus tachycardia but was otherwise normal. A chest radiograph revealed mild, diffuse air-space disease in both lungs and no pleural effusions; the heart was normal in size. Computed tomography (CT) of the chest showed multiple patchy infiltrates peripherally in both lung bases. The central airways were clear; the pulmonary artery was 2.2 cm in diameter, and there was no evidence of pulmonary embolus or lymphadenopathy. She was transferred to this hospital. The patient had had ulcerative colitis for more than 10 years, with recurrent episodes of cramps, diarrhea, tenesmus, urgency of defecation, and mucus. She had been treated intermittently with balsalazide, hydrocortisone enemas, azathioprine, and tapering courses of oral prednisone. Nine months earlier, persistent bloody diarrhea developed that did not respond to prednisone; 6 months before admission, Case 33-2008: A 63-Year-Old Woman with Dyspnea on Exertion

Diagnostic Yield of CT-Guided Percutaneous Transthoracic Needle Biopsy for Diagnosis of Anterior Mediastinal Masses.

OBJECTIVE The purpose of this study was to evaluate the diagnostic yield and accuracy of CT-guided percutaneous biopsy of anterior mediastinal masses and assess prebiopsy characteristics that may help to select patients with the highest diagnostic yield. MATERIALS AND METHODS Retrospective review of all CT-guided percutaneous biopsies of the anterior mediastinum conducted at our institution from January 2003 through December 2012 was performed to collect data regarding patient demographics, imaging characteristics of biopsied masses, presence of complications, and subsequent surgical intervention or medical treatment (or both). Cytology, core biopsy pathology, and surgical pathology results were recorded. A per-patient analysis was performed using two-tailed t test, Fishers exact test, and Pearson chi-square test. RESULTS The study cohort included 52 patients (32 men, 20 women; mean age, 49 years) with mean diameter of mediastinal mass of 6.9 cm. Diagnostic yield of CT-guided percutaneous biopsy was 77% (40/52), highest for thymic neoplasms (100% [11/11]). Non-diagnostic results were seen in 12 of 52 patients (23%), primarily in patients with lymphoma (75% [9/12]). Fine-needle aspiration yielded the correct diagnosis in 31 of 52 patients (60%), and core biopsy had a diagnostic rate of 77% (36/47). None of the core biopsies were discordant with surgical pathology. There was no statistically significant difference between the diagnostic and the nondiagnostic groups in patient age, lesion size, and presence of necrosis. The complication rate was 3.8% (2/52), all small self-resolving pneumothoraces. CONCLUSION CT-guided percutaneous biopsy is a safe diagnostic procedure with high diagnostic yield (77%) for anterior mediastinal lesions, highest for thymic neoplasms (100%), and can potentially obviate more invasive procedures.

Case records of the Massachusetts General Hospital. Case 33-2008. A 63-year-old woman with dyspnea on exertion.

Dr. Andrew Tinsley (Medicine): A 63-year-old woman was admitted to this hospital because of dyspnea on exertion. The patient had been in her usual state of health until approximately 3 weeks before admission, when dyspnea developed. Approximately 1 week later, she began to have tightness in the chest on exertion, as well as burning pain in the left subscapular region that radiated down the left arm and was relieved by massage therapy, acetaminophen, and ibuprofen. The dyspnea gradually increased in severity, until she became short of breath while walking up one flight of stairs or moving a lawn chair a few feet. She had a mild dry cough but no fever, chills, hemoptysis, nausea, vomiting, diaphoresis, night sweats, weight loss, anorexia, joint pain, or rashes. On the afternoon before admission, the patient went to the emergency department of another hospital because of progressive dyspnea. On examination, she appeared comfortable. She rated the subscapular pain as 3 on a scale of 0 to 10, in which 10 is the most severe. The blood pressure was 104/72 mm Hg, the pulse 105 beats per minute, the temperature 36.4°C, the respiratory rate 20 breaths per minute, and the oxygen saturation 93% while the patient was breathing ambient air. There were rales in both lungs, extending halfway up from the bases. The remainder of the examination was normal. An analysis of arterial blood while the patient was breathing ambient air revealed a pH of 7.40, a partial pressure of carbon dioxide of 38 mm Hg (reference range, 35 to 45), a partial pressure of oxygen of 69 mm Hg (reference range, 75 to 100), and a serum total carbon dioxide content of 22.5 mmol per liter (reference range, 20 to 26). Other laboratory-test results are shown in Table 1. An electrocardiogram revealed sinus tachycardia but was otherwise normal. A chest radiograph revealed mild, diffuse air-space disease in both lungs and no pleural effusions; the heart was normal in size. Computed tomography (CT) of the chest showed multiple patchy infiltrates peripherally in both lung bases. The central airways were clear; the pulmonary artery was 2.2 cm in diameter, and there was no evidence of pulmonary embolus or lymphadenopathy. She was transferred to this hospital. The patient had had ulcerative colitis for more than 10 years, with recurrent episodes of cramps, diarrhea, tenesmus, urgency of defecation, and mucus. She had been treated intermittently with balsalazide, hydrocortisone enemas, azathioprine, and tapering courses of oral prednisone. Nine months earlier, persistent bloody diarrhea developed that did not respond to prednisone; 6 months before admission, Case 33-2008: A 63-Year-Old Woman with Dyspnea on Exertion

Case records of the Massachusetts General Hospital. Case 12-2013. An 18-year-old woman with pulmonary infiltrates and respiratory failure.

From the Departments of Medicine (D.P.H.), Radiology (V.V.M.), and Pathology (M.B.P.), Massachusetts General Hospital, and the Departments of Medicine (D.P.H.), Radiology (V.V.M.), and Pathology (M.B.P.), Harvard Medical School — both in Boston.

Percutaneous Lung Biopsy After Pneumonectomy: Factors for Improving Success in the Care of Patients at High Risk

OBJECTIVE The purpose of this study was to assess the risks and complications of CT-guided needle biopsy of lung nodules in patients with a single lung after pneumonectomy. MATERIALS AND METHODS A database search for the records of patients who had undergone lung biopsy over a 9-year period revealed that 1771 patients had done so. Fourteen (0.7%) of these patients (11 men, three women; mean age, 63 years; range, 42.4-79.6 years) had undergone pneumonectomy and been referred for biopsy of the contralateral lung. The images and medical records of these patients were reviewed in detail. RESULTS Lung biopsy was technically successful in 86% (12/14) of cases. All procedures were fine-needle aspiration, and a core biopsy specimen also was obtained in one case. Fifty percent (6/12) of the procedures were performed with local anesthesia alone and 50% with a combination of local anesthesia and conscious sedation. The pneumothorax rate was 25% (3/12). All pneumothoraces were small and asymptomatic, and none required a chest drain. There were no cases of hemoptysis. No other immediate or delayed complications were encountered. Malignancy was found in 83% (10/12) of cases. In one of the other two cases (8%) the result was false-negative, and in the other, the nodules resolved without chemotherapy and were presumed to be inflammatory. CONCLUSION Percutaneous lung biopsy performed on the single lung in patients who have undergone pneumonectomy is feasible and successful. Lung biopsy in these circumstances should be performed by an experienced radiologist with thoracic surgical backup.

Case 38-2013: A 30-Year-Old Man with Fever and Lymphadenopathy

Dr. Jennifer M. Rosenbluth (Medicine): A 30-year-old man was seen in an outpatient clinic at this hospital because of fever and lymphadenopathy. The patient had been well until approximately 2 weeks before presentation, when an enlarging, tender lump developed at the posterior base of the neck on the right side. Two days before presentation, fever to a temperature of 39.4°C, a mild headache, myalgias, chills, and fatigue developed. He took ibuprofen, but his condition did not improve, and he came to this hospital for evaluation. The patient reported no history of sore throat, coryza, or earache. He had had a low hemoglobin level in the past but was otherwise healthy. He reportedly had had a negative tuberculin skin test in the past, and he had not received an influenza vaccine during the previous year. He took no other medications and had no known allergies. He was born in India and came to the United States 4 years previously to attend school; his most recent visit to India was 6 months before presentation. He worked in an office and lived with a roommate. He was not sexually active and had no known exposures to sick contacts, animals, or blood products. He had stopped smoking 2 years before this presentation, drank alcohol occasionally, and did not use illicit drugs. His parents had diabetes mellitus; there was no family history of autoimmune or connective-tissue diseases. On examination, the temperature was 38.9°C, the blood pressure 129/80 mm Hg, and the pulse 104 beats per minute. A group of five tender lymph nodes, each approximately 1 cm in diameter, was present in the posteroinferior cervical chain on the right side; the lymph nodes in the posterior cervical chain on the left side and in both inguinal regions were nontender, and there were no abnormal lymph nodes in the supraclavicular or axillary regions. A systolic ejection murmur (grade 1 out of 6) was heard at the cardiac base; the remainder of the examination was normal. During evaluation, the temperature rose to 39.5°C and was associated with chills. Blood levels of glucose, total protein, albumin, and globulin were normal, as were results of tests of liver and renal function; testing for heterophile antibodies and rapid tests for streptococcal pharyngitis and influenza virus were negative. Additional test results are shown in Table 1. A blood culture was sterile. The administration of acetaminophen alternating with ibuprofen was recommended, as were fluids Case 38-2013: A 30-Year-Old Man with Fever and Lymphadenopathy