Spontaneous mutation of hemoglobin Lufkin in a white boy.

A 10-year-old white boy presented clinically with thalassemia major facies, pallor, jaundice, and hepatomegaly. Investigation revealed the patient has hemoglobin (Hb) Lufkin concurrent with beta(0) thalassemia. DNA sequencing of the beta globin gene confirmed a GGC to a GAC mutation at codon 29 (gly to asp) for Hb Lufkin on the patient and also revealed a beta(0) thalassemia mutation, IVS-1-1 (G to A), on both the patient and his mother. Both parents lack the Hb Lufkin mutation. Molecular studies, human leukocyte antigen, and red blood cells phenotypic studies indicate spontaneous mutation of Hb Lufkin in this patient.

F-18 FDG versus Ga-67 for detecting splenic involvement in Hodgkin's disease.

PURPOSE: The objectives of this investigation were to characterize splenic uptake patterns of F-18 fluorodeoxyglucose (FDG) and Ga-67 in newly diagnosed Hodgkin's disease, to correlate these uptake patterns with the presence or absence of splenic disease, and to compare the accuracy of these two studies for detecting splenic disease. METHODS: FDG positron emission tomography and Ga-67 whole-body and SPECT imaging were performed in 32 patients with previously untreated Hodgkin's disease. Two readers, blinded to clinical information and final diagnoses, independently reviewed the study results. For both FDG and Ga-67, the intensity of splenic uptake was compared with the intensity of hepatic uptake and graded as follows: 0, less than liver uptake; 1, equal to liver uptake; and 2, greater than liver uptake. Differences in interpretation were resolved by consensus. RESULTS: Twelve (38%) of 32 patients had splenic disease. Using splenic uptake greater than hepatic uptake as the criterion for a positive study, the sensitivity, specificity, and accuracy of FDG were 92%, 100%, and 97%, respectively. Using splenic uptake at least as intense as hepatic uptake as the criterion for a positive study, the sensitivity specificity, and accuracy of Ga-67 were 50%, 95%, and 78%, respectively. The differences in sensitivity and accuracy of FDG and Ga-67 were significant (P = 0.04, and 0.03, respectively). CONCLUSION: In newly diagnosed Hodgkin's disease, FDG accurately diagnoses splenic involvement and is significantly more sensitive and accurate than Ga-67 for this purpose.

Intracerebral presentation of Hodgkin disease mimicking meningioma in a young woman: case presentation with literature review.

Intracranial involvement of the Hodgkin disease (HD) is a rare entity. Until now, 9 cases of initial presentation of the HD as a brain tumor with appropriate morphologic and histochemical confirmation were reported. Of the 9 patients, 6 had isolated primary intracranial HD and 3 patients after further investigation were found to have extracranial involvement. Seven patients had nodular sclerosing histology, 1 had mixed cellularity, and in 1 case histology was not reported. We describe a patient with systemic nodular sclerosing HD, who initially presented with a brain mass mimicking meningioma and was found to have disseminated lymphadenopathy and bone involvement.

Coincidence-detection FDG-PET versus gallium in children and young adults with newly diagnosed Hodgkin's disease.

UNLABELLED: Coincidence-detection 18F-FDG-PET (PET) and 67Ga whole-body and SPECT (Ga) were compared in children and young adults with newly diagnosed Hodgkin's disease (HD). MATERIALS AND METHODS: Thirty patients with histologically confirmed HD underwent PET with attenuation correction 1 h after injection of 150-220 MBq 18F-FDG and whole-body and SPECT imaging 72 h after injection of 250-370 MBq 67Ga citrate. Two experienced readers retrospectively reviewed PET and Ga scans, grading 13 anatomic regions from one (normal) to five (abnormal). Numerical stages were assigned based on Ann Arbor classification. Comparison was made with disease sites (established by biopsy or two or more of the following: physical examination, conventional imaging studies, radionuclide studies, and follow-up studies) and clinical stages. Sensitivity, specificity, and accuracy were calculated and significance of differences determined using McNemar's test. RESULTS: PET detected 120/138 (87%) disease sites and Ga 109/138 (79%). PET and Ga were concordant for 103/138 (75%) sites. Accuracies were not significantly different for supradiaphragmatic disease. PET was more accurate than Ga for detecting splenic (0.91 vs 0.61, P = 0.012), infradiaphragmatic (0.89 vs 0.75, P = 0.042), and all disease sites combined (0.95 vs 0.91, P = 0.039). PET stage agreed with clinical stage in 79% of patients and Ga in 71%. CONCLUSION: PET was superior to Ga for evaluating children and young adults with newly diagnosed HD.

Reliability of splenic index to assess splenic involvement in pediatric Hodgkin's disease.

The purpose of this study was to determine the reliability of the splenic index (SI) in children with Hodgkin's disease (HD). Seventeen patients who underwent staging laparotomy for HD were included in this study. Pretreatment computed tomography scans of these patients were reviewed retrospectively to determine the SI. The specificity, sensitivity, positive and negative predictive values, and accuracy of the SI were calculated. The sensitivity and specificity of the SI were 50% and 66%, respectively. The SI alone accurately identified or ruled out involvement with HD in 10 of 17 patients. Positive and negative predictive values of the SI were 57% and 60%, respectively. Even with the use of the SI, computed tomography alone remains unreliable to determine splenic involvement in children with HD. Additional imaging studies, especially fluorodeoxyglucose positron emission tomography, may improve the clinical staging of HD.

An adolescent with ovarian osteosarcoma arising in a cystic teratoma.

A 14-year-old girl had an abdominal mass with the characteristics of an ovarian germ cell tumor on computed tomography scan. The mass, arising from the left ovary, was completely resected and found to be osteosarcoma arising from a mature cystic teratoma. A metastatic lesion in the abdomen did not respond to 2 courses of cisplatin, doxorubicin, ifosfamide, and high-dose methotrexate, and was resected. Seven months after completion of chemotherapy, there were simultaneous local recurrence and lung metastases. Previously, 10 cases of ovarian osteosarcoma have been reported in the literature: 5 were primary osteosarcoma of the ovary, 4 were associated with teratomas, and 1 was part of a malignant mixed mesodermal tumor of the ovary. Of the 10, there are only 2 long-term survivors, both of whom were treated with adjuvant chemotherapy following complete resection.