68Ga-FAPI-04 PET/CT Findings in Patients with Liver Cirrhosis.

Fibroblast activation protein (FAP) is expressed as a pro-inflammatory agent from fibrous tissue in liver cirrhosis and in the tumor microenvironment. Cirrhosis is the last stage of any chronic liver disease, and the natural course of cirrhosis is the progression from the asymptomatic phase to the symptomatic decompensated phase with the development of ascites. Although various clinical features suggest cirrhosis in patients with chronic liver disease, non-invasive methods should follow the clinical approach before a definitive diagnosis. Herein, we present three cases of liver cirrhosis with fibroblast activation protein inhibitor (FAPI) uptake to demonstrate the usefulness of 68Ga-FAPI-04 positron emission tomography/computed tomography (PET/CT) scan in cirrhosis.

68 Ga-FAPI-04 PET/CT In Primary Signet Ring-Like Cell Carcinoma of Prostate With Bone Metastases.

ABSTRACT: We presented a 69-year-old man with liver cirrhosis who underwent 68 Ga-fibroblast activation protein (FAPI)-04 PET/CT imaging for an ongoing study. In addition to the significant activity in liver cirrhosis on FAPI PET, a primary prostate tumor was incidentally detected with bone metastases. Further, FAPI-negative metastases were not observed on CT evaluation. In this context, we think that FAPI may be helpful with the potential theranostic aspect, especially in selected patients when current treatment options are not applicable or unresponsive. However, we should await the results of prospective studies investigating both prognostic and theranostic use of FAPI and demonstrating its effectiveness in cancer therapy.

Complex Fibroadenoma Mimicking Breast Cancer on 68Ga-FAPI-04 and 18F-FDG PET/CT.

ABSTRACT: A 47-year-old woman had complaint of palpable swelling in the left breast for the last 3 weeks. 18F-FDG PET/CT for staging of concomitant invasive carcinoma in the right breast and 68Ga-labeled fibroblast activation protein inhibitor 04 PET/CT imaging in an ongoing study were performed. Increased radiopharmaceutical uptake was observed in both PET/CT imaging in complex fibroadenoma located in the left breast.

68Ga-PSMA and 68Ga-FAPI-04 PET/CT Findings With 18F-FDG PET/CT in a Patient With Recurrent Prostate Cancer.

ABSTRACT: A 79-year-old man with prostate cancer was evaluated with 68Ga-prostate-specific membrane antigen (PSMA), 68Ga-FAPI-04, and 18F-FDG PET/CT scans since a rise in prostate-specific antigen was seen at last control while receiving chemotherapy. Abnormal FDG uptakes were observed in the tumoral areas of the left half of the prostate and walls of the bladder, although PSMA and FAPI activity were absent or lower in the relevant tumoral areas. Restaging 68Ga-PSMA and 18F-FDG PET/CT scans were obtained on the patient whose progression continued after transurethral tumor resection. Herein, we present a case proving intraindividual tumor heterogeneity in prostate cancer underwent PET/CT imaging with 3 different radiopharmaceuticals.

Findings of I-131 SPECT/CT, 18F-FDG, and 68Ga-FAPI-04 PET/CT Imaging in a Patient Treated with Radioiodine Therapy for Metastatic Papillary Thyroid Carcinoma.

A 50-year-old man undergone total thyroidectomy and histopathology revealed papillary thyroid carcinoma with a tumor size of 4.5 cm. The patient was referred to a nuclear medicine clinic for radioiodine therapy. Since the thyroglobulin level before the treatment was 495 ug/L, low-dose (185 MBq) I-131 scan was performed. In addition to multiple liver metastases, bone metastases were detected in the sacrum and right 7th rib in I-131 whole body scanning and single photon emission computed tomography/computed tomography (CT) imaging at the time of initial staging. We present a case of multiple metastatic papillary thyroid carcinoma whose radioiodine treatment response and clinical outcome were evaluated with 18F-fluorodeoxyglucose and Gallium-68 FAPI-04 positron emission tomography/CT.

Effect of Leflunomide Use on 68Ga-DOTATATE Biodistribution in a Case With Neuroendocrine Tumor.

ABSTRACT: A 58-year-old man who underwent surgery for a well-differentiated neuroendocrine tumor of pancreatic origin was evaluated with 68Ga-DOTATATE PET/CT imaging in the follow-up period. After PET/CT findings consistent with disease remission, the patient was started on leflunomide treatment with the diagnosis of rheumatoid arthritis. The patient received leflunomide for 6 months. Then, 68Ga-DOTATATE PET/CT scan was repeated to evaluate the primary disease outcome. Besides the disease remission, we also observed alterations in DOTATATE uptakes of some tissues and organs. In this case, we present the changes in 68Ga-DOTATATE PET/CT scan findings after leflunomide use.

Prognostic Significance of 18F-FDG PET/CT Imaging in Survival Outcomes in Patients with Renal Cell Carcinoma.

Objectives: Renal cell carcinoma (RCC) comprises 85%-90% of primary renal malignant tumors originating from the renal tubular epithelium and has different genetic characteristics. This study aimed to investigate the potential predictive role of 18F-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) and metabolic parameters in overall survival (OS) analysis in patients with RCC. Methods: 18F-FDG PET/CT images of 100 patients performed for initial staging before surgical or oncological treatments were analyzed retrospectively. Maximum standard uptake value (SUVmax-T) of the primary tumor was calculated and its relationship to patient survival was analyzed. The median follow-up time was 5.61 years (0.01-8.7 years). Results: SUVmax-T levels in the patients ranged from 2.1 to 48.9 (median 5.9, mean 9.0±7.9). SUVmax-T was significantly higher in RCC-related death more positive than in the negative cases (p<0.001). However, there was not any statistical significance for gender and pathological subtypes on the survival outcomes of patients (p=0.264 and p=0.784). The patients' 1-year, 3-year, and 5-year OS rates were 71%, 61%, and 57%, respectively. The highest action of SUVmax-T for estimating OS was a cut-off level of 5.4, which maintained sensitivity and specificity of 81% and 75%, respectively. However, cancer staging remained independent significance for OS (p<0.001). Conclusion: SUVmax of primary tumor and cancer stage were demonstrated as significant prognostic factors for OS in patients with RCC. Evaluation of 18F-FDG accumulation with PET/CT may help plan treatment strategies and predict survival outcomes of these patients at diagnosis.

Diagnostic impact of F-FDG PET/CT imaging on the detection of immune-related adverse events in patients treated with immunotherapy

Introduction: Immunotherapy is an effective treatment method for cancer cells with humoral and cellular immune mechanisms of action but triggers an inflammatory response and disrupts standard protective immune tolerance. Early detection of immune-related adverse events (irAEs) on PET/CT is crucial for patient management and subsequent therapy decisions. In this study, we aimed to evaluate the impact of 18F-FDG PET/CT on detecting of irAEs in patients receiving immunotherapy.Patients and methodsForty-six patients with advanced RCC (n: 32), malign melanoma (n: 9), lung cancer (n: 4), and laryngeal carcinoma (n: 1), who underwent 18F-FDG PET/CT imaging for response assessment after immunotherapy, were enrolled in the study. Newly detected findings associated with irAEs on posttreatment PET/CT images were compared with the pretreatment PET/CT, both qualitatively and semi-quantitatively.ResultsTwenty-eight (61%) patients developed irAEs as observed on PET/CT. Enteritis/colitis was the most frequent irAE visualized on PET/CT with 13 patients (28.2%), followed by gastritis (17.3%), thyroiditis (13%), and myositis/arthritis (13%). Hepatitis (6.5%), pneumonitis (6.5%), sarcoid-like reaction (4.3%), and hypophysitis (4.3%) were observed to a lesser extent. The median time between the appearance of irAEs on PET/CT and the initiation of immunotherapy was 4.3 months. There were no significant differences in age, sex, and treatment response status of patients with and without irAEs.Conclusion18F-FDG PET/CT plays a fundamental role in cancer immunotherapy with the potential to show significant irAEs both in the diagnosis and in follow-up of irAEs. IrAEs were present on PET/CT images of more than half of the patients who received immunotherapy in our study. (AU)

Comparison of 18F-FDG and 68Ga-FAPI PET/CT in Gastric Kaposi Sarcoma.

ABSTRACT: Herein, we present the results of 18F-FDG PET/CT and 68Ga-FAPI-4 PET/CT of a patient with metastatic Kaposi sarcoma. A 47-year-old man with suspected gastric cancer was referred to 18F-FDG PET/CT for diagnosis and staging. PET/CT detected increased 18F-FDG uptake in metastatic lymphadenopathies and liver lesions. 68Ga-FAPI-4 PET/CT was performed for ongoing clinical trial. Although 68Ga-FAPI-4 PET/CT may be a better alternative than 18F-FDG for the imaging of primary tumoral infiltrations in the stomach, 18F-FDG seems to be a more useful agent for the Kaposi sarcoma in determining the extent of the disease and the localization of metastatic lesions.

The Value of 18F-FDG PET/CT Imaging in the Evaluation of Interim Neoadjuvant Chemotherapy Response in Locally Advanced Breast Cancer.

Objectives: Neoadjuvant chemotherapy (NAC) is the frequently used treatment option for locally advanced breast cancer (LABC). This study investigated the potential value of 18fluorine-fluorodeoxyglucose (18F-FDG) positron emission tomography/computed tomography (PET/CT) to estimate the pathological complete response (pCR) using maximum standardized uptake value (SUVmax) and change (ΔSUVmax) after 3-4 cycles of NAC. Additionally, it was established the relationship between PET/CT imaging findings and histopathological features in LABC patients whose treatment response was evaluated with interim PET/CT. Methods: Patients were evaluated with pretreatment and interim PET/CT scans and operated after on NAC. Data on the age of patients, menopausal status, tumor placement, histopathological and molecular subgroups were noted. SUVmax and ΔSUVmax of the primary tumor and axillary lymph node (ALN) were calculated from PET/CT review. Results: Pretherapy mean SUVmax of the primary tumor and ALNs were 8.13±4.25 and 7.22±3.58, respectively. The highest mean primary tumor ΔSUVmax and ALN ΔSUVmax values were observed to be human epidermal growth factor receptor 2 positivity (p<0.001). SUVmax-T, SUVmax-N, ΔSUVmax-T, and ΔSUVmax-N values were significantly correlated with the ki-67 index (p<0.001). ΔSUVmax-T and ΔSUVmax-N values of pCR (+) patients were statistically higher than the ΔSUVmax-T and ΔSUVmax-N values of pCR (-) patients (p<0.001). Conclusion: An earlier and more accurate response to NAC can be performed using interim 18F-FDG PET/CT imaging. ΔSUVmax levels of the breast tumor and ALNs may act as predictive for pCR in LABC patients receiving NAC.

Diagnostic impact of 18F-FDG PET/CT imaging on the detection of immune-related adverse events in patients treated with immunotherapy.

INTRODUCTION: Immunotherapy is an effective treatment method for cancer cells with humoral and cellular immune mechanisms of action but triggers an inflammatory response and disrupts standard protective immune tolerance. Early detection of immune-related adverse events (irAEs) on PET/CT is crucial for patient management and subsequent therapy decisions. In this study, we aimed to evaluate the impact of 18F-FDG PET/CT on detecting of irAEs in patients receiving immunotherapy. PATIENTS AND METHODS: Forty-six patients with advanced RCC (n: 32), malign melanoma (n: 9), lung cancer (n: 4), and laryngeal carcinoma (n: 1), who underwent 18F-FDG PET/CT imaging for response assessment after immunotherapy, were enrolled in the study. Newly detected findings associated with irAEs on posttreatment PET/CT images were compared with the pretreatment PET/CT, both qualitatively and semi-quantitatively. RESULTS: Twenty-eight (61%) patients developed irAEs as observed on PET/CT. Enteritis/colitis was the most frequent irAE visualized on PET/CT with 13 patients (28.2%), followed by gastritis (17.3%), thyroiditis (13%), and myositis/arthritis (13%). Hepatitis (6.5%), pneumonitis (6.5%), sarcoid-like reaction (4.3%), and hypophysitis (4.3%) were observed to a lesser extent. The median time between the appearance of irAEs on PET/CT and the initiation of immunotherapy was 4.3 months. There were no significant differences in age, sex, and treatment response status of patients with and without irAEs. CONCLUSION: 18F-FDG PET/CT plays a fundamental role in cancer immunotherapy with the potential to show significant irAEs both in the diagnosis and in follow-up of irAEs. IrAEs were present on PET/CT images of more than half of the patients who received immunotherapy in our study.

Role of 18F-FDG PET/CT in the assessment of therapy response and clinical outcome in metastatic renal cell carcinoma treated with tyrosine kinase inhibitors or immunotherapy.

OBJECTIVE: This study aimed to determine the role and prognostic significance of 18F-FDG PET/CT on treatment response and survival outcomes in metastatic renal cell carcinoma patients treated with immunotherapy or tyrosine kinase inhibitors (TKIs). PATIENTS AND METHODS: Forty patients scheduled for a standard treatment protocol with TKIs (n = 17; group-1) or PD-1 inhibitors (nivolumab, n = 23; group-2) were evaluated by 18F-FDG PET/CT. Peak standardized uptake value corrected for lean body mass (SULpeak) and maximum standardized uptake value (SUVmax) were calculated, and their relationship to treatment response was evaluated. RESULTS: Complete response (CR) in three patients, partial response (PR) in two patients and stable disease (SD) in eight patients were observed in group-1, and the results were as follows for group-2: PR in seven and SD in five patients. At a mean of 17.5-month observation period (range, 7-47), 35.2% of patients progressed, and 23.5% achieved a CR, and no recurrence was observed on PET/CT scans during follow-up. Among all patients enrolled in the study, the 5-year OS in patients with progressive disease (PD) was significantly shorter than patients with clinical benefit (CB = CR and PR and SD) (P = 0.016). Significant differences in both ΔSULpeak and ΔSUVmax were found between PD versus CB (P = 0.001 and P < 0.001, respectively). CONCLUSION: 18F-FDG-PET/CT can accurately assess therapy response and predict patient outcome in metastatic RCC. 18F-FDG PET/CT may facilitate patient management by evaluating the biological and immunological responses to treatment in patients treated with TKIs or ICIs.

Peritoneal Tuberculosis Mimicking Peritoneal Carcinomatosis on 68 Ga-FAPI-04 and 18 F-FDG PET/CT.

ABSTRACT: We report a case of tuberculosis peritonitis in a 26-year-old woman who presented with abdominal pain, fatigue, and weight loss for the last 4 months. Abdominal US and CT demonstrated intra-abdominal massive ascites, misty mesentery, and diffuse peritoneal thickening. In addition, 3 nodular lesions were detected in the right lung. 18 F-FDG PET/CT showed hypermetabolism in lung nodules, mesenteric area, peritoneal thickening, and ascites. 68 Ga-FAPI-04 (fibroblast activation protein-specific inhibitor) PET/CT imaging was also performed; high uptakes were detected in the same regions of 18 F-FDG PET/CT. Tuberculosis diagnosis was made after histopathological examination of wedge resection of the right lung.

The relationship between HER2 expression and 18F-FDG in gastric carcinoma.

OBJECTIVE: The aim of this retrospective study was to evaluate the relationship between human epidermal growth factor receptor 2 (HER2) expression and fluorine-18-fluorodeoxyglucose (18F-FDG) uptake in positron emission tomography with computed tomography (PET/CT) in gastric carcinoma. MATERIALS AND METHODS: Gastric carcinoma patients who had 18F-FDG PET/CT scans before treatment were enrolled in this study. Ninety PET/CT images were evaluated before resection or neoadjuvant treatment of 69 patients with gastric carcinoma who had HER2 examination tests. The maximum standardized uptake value (SUVmax) at early (SUV1) and delayed images (SUV2) if any were calculated. In addition, liver SUVmax was measured from the normal liver parenchyma at the dual time (SUV1 liver and SUV2 liver). Tumor-to-liver SUVmax ratio (TLR), retention indexes (RI) from SUVmax, and TLR values obtained from dual-time images were calculated. RESULTS: Histological type of 69 patients were 85.5% adenocarcinoma, 10.1% signet ring cell carcinoma, 2.9% adenosquamous carcinoma, 1.4% mucinous adenocarcinomas. Human epidermal growth factor receptor 2 negative group included 56 (81.2%) patients and the positive group had 10 (14.35%) patients. We did not find any statistical difference for the values of SUVmax and tumor-to-liver SUVmax on all histological types of gastric carcinoma on the dual-phase PET scan. High-level SUV1 was found in the HER2 positive group (8.01±3.11) than negative group (6.15±3.76) in early PET/CT imaging (P=0.043) for adenocarcinoma patients. A positive correlation was observed between HER2 and SUV1 in adenocarcinoma patients (r=0.254,P=0.042). An inverse correlation was determined for histological grade with SUV1 (r=-0.29,P=0.048), TLR1 (r=-0.29,P=0.048) and TLR2 (r=-0.324, P=0.03). CONCLUSION: Patients with HER2 expression in gastric adenocarcinomas had higher SUVmax values, but no significant difference was found between the groups when the tumor/liver ratio was measured by SUVmax from normal liver parenchyma when background activity was excluded. Signet ring cell carcinoma type and the presence of the signet ring component had no effect on 18F-FDG uptake.

Contribution of 18F-FDG PET/CT imaging in the diagnosis and management of HIV-positive patients.

INTRODUCTION AND OBJECTIVES: The human immunodeficiency virus [HIV] is a lentevirus, primarily infects certain cells of the immune system, thereby greatly weakens the body's own defenses against diseases. This study was aimed to explore the value and significance of 18F-FDG PET/CT in the assessment of patients with HIV infection and to examine the presence of quantitative alterations in 18F-FDG uptake among patients with HIV-related infections or malignant diseases in HIV-positive patients. PATIENTS AND METHODS: Forty patients with HIV infection were scanned on PET/CT system. The data were registered according to immune status, antiretroviral therapy, and definitive diagnosis. All pathologic lesions and disease related areas were described, 18F-FDG uptake patterns were evaluated. Semiquantitative analysis of 18F-FDG uptake was performed and SUVmax were calculated. RESULTS: Twenty-eight patients [70%] were diagnosed with HIV-related infection or malignant diseases. The sensitivity of PET/CT was shown to be 100% and the specificity 92% for concomitant diseases requiring additional treatment to antiretroviral therapy. The SUVmax and CD4 counts were not statistically different between HIV-related reactive lymphadenopathy, HIV-related malignancy, and HIV-related infections. CONCLUSIONS: The pattern of distribution of nodal/extranodal uptake on 18F-FDG PET/CT may facilitate distinction between HIV-related generalized lymphadenopathies, HIV-related opportunistic infections, and malignancies. In this context, 18F-FDG PET/CT should be preferred for routine use in the management of patients infected with HIV.

The impact of IV contrast enhanced 18F-FDG PET/CT on the staging of bladder cancer.

OBJECTIVE: The aim of this retrospective study was to compare the diagnostic accuracies of conventional radiological imaging (CI) methods magnetic resonance imaging or computed tomography (MRI or CT) and intra venous (IV) contrast enhanced (CE) fluorine-18-fluorodeoxyglucose positron emission tomography/CT (18F-FDG PET/CT) for the staging of bladder cancer (BC). MATERIALS AND METHODS: The 18F-FDG CE-PET/CT results of 35 consecutive patients with BC were analyzed. Diagnostic value of CE-PET/CT and CI are compared for their accuracy in revealing primary tumors, nodal-distant metastasis, and the final tumor staging. The imaging results were compared with the gold standard, including of histopathology and clinical follow-up. We also investigated the effect of maximum standardize uptake value (SUVmax) and lymph node metastasis on survival. RESULTS: The CE-PET/CT had a diagnostic accuracy of 89% (31/35), compared to 57% (19/35) for CI. The results of CE-PET/CT imaging lead to upstaging in 37% (13/35) patients compared to CI staging. For primary tumor detection, the sensitivity of CE-PET/CT was 97% (34/35). Contrast enhanced-PET/CT detected nodal metastases in 19 (54%) patients, whereas CI detected in 9 (26%) patients. Contrast enhanced-PET/CT detected distant metastases in 14 (40%) patients, while conventional methods showed distant metastases in 9 (26%) patients. Maximum SUV of primary tumor does not have a significant effect on survival, whereas the median survival time of patients without lymph node metastasis is longer than patients who have lymph node metastasis (P=0.038). CONCLUSION: These data suggest that 18F-FDG CE-PET/CT had good diagnostic performance compared to conventional imaging for detecting primary tumor, nodal and distant metastasis in BC. Upstaging by CE-PET/CT changed the management of patients.

Role of contrast-enhanced 18F-FDG PET/CT imaging in the diagnosis and staging of renal tumors.

PURPOSE: The objectives of this prospective study are to compare intravenous contrast-enhanced (CE) fluorine-18-fluorodeoxyglucose (F-FDG) PET/computed tomography (CE F-FDG PET/CT) with conventional methods (CT/MRI) and to evaluate the relationship of maximum standardized uptake value (SUVmax) with Fuhrman grade in patients with renal tumors. PATIENTS AND METHODS: A total of 62 patients [35 males and 27 females; mean age 55.8±12.7 (range: 27-81) years] were enrolled in the study. CE F-FDG PET/CT scanning included whole-body (early) and abdominal imaging (late) 1 and 2 h after intravenous F-FDG administration, respectively. SUVmax was calculated for primary tumors. CE F-FDG PET/CT and CT/MRI findings were compared with respect to primary tumors and staging. RESULTS: The sensitivity of CE F-FDG PET/CT in primary tumor detection was 98%, which was very close to that of CT/MRI (100%). CE F-FDG PET/CT resulted in correct staging in 84% of the cases, compared with 68% of the cases with conventional methods (52 vs. 42 patients). SUVmax values of early PET for the primary tumors were significantly correlated with the Fuhrman grades (P<0.001). CE F-FDG PET/CT enabled the detection of synchronous tumors in four patients, one of which was incorrectly diagnosed as having metastasis by CT. Distant metastases were detected in 16 patients with CE F-FDG PET/CT and in 13 patients with routine conventional methods. CONCLUSION: CE F-FDG PET/CT showed similar results compared with CT/MRI in the detection of primary tumors, but it was superior to conventional methods in the detection of metastasis and staging. Given the highly significant correlation between SUVmax values and the Fuhrman grading, CE F-FDG PET/CT may play a significant role in the evaluation of patient prognosis.

The value of whole-body contrast-enhanced 18F-FDG PET/CT imaging in the diagnosis and staging of patients with laryngeal carcinoma.

PURPOSE: This study aimed to determine whether intravenous contrast-enhanced dual-phase fluorine-18--fluorodeoxyglucose (F-FDG) PET/CT scans provide additional diagnostic information compared with the MRI/CT in patients with laryngeal carcinoma during the initial staging. PATIENTS AND METHODS: Forty-five consecutive patients (44 men, one woman; mean age±SD, 67.0±9.0 years, range: 45-80 years) with carcinoma of the larynx who had MRI/CT and intravenous contrast-enhanced PET/CT were enrolled. Each patient was scanned on the PET/CT system 1 h (early) and 2 h (delayed) after injection. The maximum standardized uptake values of the primary tumor, nodal, and distant metastatic lesions were measured using the dual-time-point method. Double-blinded F-FDG PET/CT and MRI/CT staging data were compared. The diagnostic accuracy of each modality was compared for primary tumors, nodal metastasis, and the tumor staging. RESULTS: For primary tumor detection, the sensitivity of PET/CT was higher (100%) than MRI/CT (93.3%). The accuracy for N status was 88.8% for PET/CT, being superior to MRI, which had an accuracy of 66.6%. The sensitivity and specificity for the detection of nodal metastasis were 100 and 84.6% for PET/CT compared with 100 and 50% for MRI/CT, respectively. As an initial TNM-staging method, the PET/CT had a diagnostic accuracy of 86.6% compared with 44.4% for MRI/CT. CONCLUSION: The results suggest that contrast-enhanced dual-phase PET/CT imaging contributes additional diagnostic information compared with the conventional methods for the initial evaluation of primary laryngeal tumors. F-FDG PET/CT has a good diagnostic performance for the detection of regional nodal and distant metastasis, and also synchronous tumors in patients with laryngeal carcinoma.

Spinal muscular atrophy type III: Molecular genetic characterization of Turkish patients.

Spinal Muscular Atrophy (SMA) is a neurodegenerative disease with autosomal recessive inheritance. Homozygous loss of exon 7 of the Survival of motor neuron 1 (SMN1) gene is the main cause of SMA. Although progressive muscle weakness and atrophy are common symptoms, disease severity varies from severe to mild. Type III is one of the milder and less frequent forms of SMA. In this study, we report molecular genetic characteristics of 24 Turkish type III SMA patients. Homozygous loss of SMN1 exon 7 and 8 was analysed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and multiplex ligation dependent probe amplification (MLPA). SMN2, homologue of SMN1, and Neuronal apoptosis inhibitory protein (NAIP) genes were also evaluated considering their influence on disease severity. We determined that male patients who were born in consanguineous families were predominant in our cohort and these patients mostly carry the homozygous loss of SMN1 exon 7 and 8 and four copies of SMN2 gene without NAIP deletions.

Can Positron Emission Tomography and Computed Tomography Be a Substitute for Bone Marrow Biopsy in Detection of Bone Marrow Involvement in Patients with Hodgkin's or Non-Hodgkin's Lymphoma?

INTRODUCTION: Positron emission tomography and computed tomography (PET/CT) has become an important part of staging and treatment evaluation algorithms of lymphoma. We aimed to compare the results of PET/CT with bone marrow biopsy (BMB) with respect to bone marrow involvement (BMI) in patients with Hodgkin's lymphoma (HL) and aggressive non-Hodgkin's lymphoma (aNHL). METHODS: The medical files of a total of 297 patients diagnosed with HL or aNHL and followed at the hematology clinics of 3 major hospitals in Istanbul between 2008 and 2012 were screened retrospectively and 161 patients with classical HL and aNHL were included in the study. The patients were referred for PET/CT and BMB at the initial staging. BMB was performed as the reference standard for the evaluation of BMI. RESULTS: There were 61 (38%) HL and 100 (62%) aNHL patients. Concordant results were revealed between PET/CT and BMB in 126 patients (78%) (52 HL, 74 aNHL), 20 with positive PET/CT and BMB results and 106 with negative PET/CT and BMB results. There were discordant results in 35 patients (9 HL, 26 aNHL), 16 of them with positive BMB and negative PET/ CT results and 19 of them with negative BMB and positive PET/CT results. DISCUSSION AND CONCLUSION: We observed that PET/CT is effective to detect BMI, despite it alone not being sufficient to evaluate BMI in HL and aNHL. Bone marrow trephine biopsy and PET/CT should be considered as mutually complementary methods for detection of BMI in patients with lymphoma. In suspected focal involvement, combining biopsy and PET/CT might improve staging results.