Familial gastrointestinal stromal tumor (GIST) syndrome is a rare autosomal dominant genetic disorder. We report on a kindred in which 3 family members carry a germline mutation (c.1727T>C, p.L576P) in exon 11 of the KIT gene. This mutation was not reported so far in familial GISTs. Apart from multiple GISTs in 2 of the mutation carriers, all of them had multiple hyperpigmented skin macules and a history of achalasia-like stenosis of the esophagus in early childhood. In the index patient >100 tumors and a diffuse Cajal cell hyperplasia of the small bowel occurred. Sequencing of DNA extracted from tumor tissue of one of his GISTs revealed the KIT mutation in exon 11 (c.1727T>C). By array comparative genomic hybridization whole chromosomal gains 3, 5, 7, 9, 12, 15, and 18 were detected. In addition, we could identify a gain on chromosome 4, spanning the KIT gene. Together with the family described here, 24 unrelated cases with proven germline mutations in KIT have been reported. In these families the diagnosis was established from the age of 30 years onwards. Because in 1 patient reported here the GIST was a coincidental finding at the age of 15 years, the tumors might occur at a very young age and remain unnoticed until they-either due to increasing size, ulceration, or malignant progression-become symptomatic. Therefore, we propose to start screening patients with known KIT mutations from a younger age.

Candidal vertebral osteomyelitis represents an extremely rare invasive mycosis and can be difficult to treat due to poor drug penetration into bony tissue. We report on a case of vertebral osteomyelitis caused by Candida krusei in a patient who had neutropenia as a result of chemotherapy for acute myelogenous leukaemia. The patient received prophylactic liposomal amphotericin B during chemotherapy but became febrile and experienced severe lumbar pain. Magnetic resonance imaging revealed vertebral osteochondrosis. C. krusei was recovered from blood cultures and voriconazole monotherapy was initiated but proved unsuccessful. The patient was then started on caspofungin monotherapy, which was discontinued after Candida krusei was no longer recoverable from blood cultures. However, as lumbar pain increased and spinal biopsy confirmed the presence of Candida krusei, caspofungin therapy was resumed. Oral posaconazole was added to the regimen when the patient did not improve after 30 days of caspofungin therapy. Combined antimycotic therapy resulted in a successful outcome.

HLA-A2 positive patients exhibit poorer tumor differentiation. This might account for a non-significant difference in OAS. The use of HLA-A2 negative patients as control cohort in CRC vaccinations would rather underestimate potential treatment-related survival effects. Therefore, we suggest they constitute a valid auxiliary control group.

No abstract

No abstract