The radiological appearances of two cases of solitary plasmacytoma in the occipital bone are described. One arose in the lateral part and the other in the squama. They showed characteristic radiological features on CT, MRI and angiography. Bone scintigraphy and gallium scintigraphy were also available. Solitary plasmacytoma of the skull is a rare condition and usually occurs in the calvarium. The skull base is an extremely rare site and only four cases have been reported. The literature of solitary plasmacytoma of the skull is reviewed.
Symptomatic renal metastasis is very rare in osteosarcoma. A few reported cases had pulmonary metastases before renal involvement. We present a case of metastatic renal osteosarcoma without pulmonary involvement. The patient presented with hematuria 8 years after initial treatment of osteosarcoma of the left distal femur. Computed tomography revealed a bilateral calcified renal mass. The patient died of disease 4 months after detection of the metastases. At autopsy, metastatic osteosarcoma was discovered in the bilateral kidney, both renal veins, inferior vena cava and right atrium. There was no pulmonary involvement. We emphasize the need for renal evaluation for the follow-up of patients with osteosarcoma.
Hypogammaglobulinemia is a rare complication of
STAT1
gain-of-function (GOF) mutations. We report an adult patient diagnosed with hypogammaglobulinemia caused by B-cell depletion during the treatment of disseminated cryptococcosis. The patient carried the
STAT1
GOF mutation (c.820C>T, p.R274W). The flow cytometric analysis of his bone marrow revealed that B-cell differentiation was blocked in the stages between pre-B1b and pre-B2 cells. On the other hand, his brother who carried the same mutation displayed normal B-cell counts, thereby indicating that the unrecognized variants in same or other gene might be associated with abnormal B-cell differentiation in the patients. In conclusion, impaired B-cell differentiation in the bone marrow can cause hypogammaglobulinemia in patients with
STAT1
GOF mutations.
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