KIT Mutation in Gastric Gastrointestinal Stromal Tumor in a Patient With Familial Paraganglioma Syndrome Type 4.

OBJECTIVE: Familial paraganglioma syndrome type 4 is associated with mutations in the succinate dehydrogenase complex subunit B (SDHB) gene. We report the case of a patient with familial paraganglioma syndrome type 4 with the mutation c.600G>T; p.Trp200Cys who developed a gastric gastrointestinal stromal tumor (GIST) with a KIT mutation. METHODS: Clinical, radiographic, and genetic data have been presented. RESULTS: A 40-year-old man with familial paraganglioma syndrome type 4 and recurrent paraganglioma presented with epigastric pain. He had undergone resection of a paraganglioma superior to the right adrenal gland at 19 years of age, resection of two para-aortic paragangliomas at 39 years, and resection of a paraganglioma in the interatrial septum at 40 years. Computed tomography scan showed a 3.2 × 3.8-cm gastric body intraluminal polypoid mass. A partial gastrectomy was performed, which revealed a GIST with a KIT mutation (NM_000222.2[KIT]:c.2466T>A[p.Asn822Lys]). CONCLUSION: This case provides further evidence that mutations in SDHB and KIT are not mutually exclusive with GISTs. It also identifies the need for endoscopic evaluation for GIST in patients with familial paraganglioma syndrome type 4 with unexplained gastrointestinal symptoms.

Geminate consonant grapheme-colour synaesthesia (ideaesthesia).

BACKGROUND: Synaesthesia is a neurological condition which manifests clinically as an involuntary experience of a sensory or cognitive pathway upon stimulation of a second unrelated sensory or cognitive pathway CASE PRESENTATION: We report a 55 year old male who presented with a life-long history of grapheme-colour synaesthesia in which the triggering grapheme was the double letter 'll' (a geminate consonant), but not 'l' as a single letter. This patient's synaesthesia was also font specific (becoming more evident with serif fonts) and influenced by migraine headache (being suppressed during the prodrome and aura of a migraine headache) CONCLUSION: These results suggest that geminate consonants are uniquely processed rather than treated as two individual consonants. Also, the existence of a mechanistic relationship between synesthetic and migrainous events sequence was verified.

Synthesis and biological evaluation of prodigiosene conjugates of porphyrin, estrone and 4-hydroxytamoxifen.

To generate the first series of prodigiosene conjugates, the tripyrrolic skeleton was appended to estrone, tamoxifen and porphyrin frameworks by way of ester linkers and various hydrocarbon chain lengths. The ability of the conjugates to inhibit various types of cancer cells was evaluated in vitro. The porphyrin conjugates did not exhibit significant activity. The estrone conjugates exhibited modest activity, for the most part. However, significantly greater growth inhibition activity against certain breast, colon, lung, leukemia, melanoma and prostate cell lines was noted. This unusual effect for this first generation model class of compound warrants further investigation and comparison to cases where estrogens are linked to prodigiosenes via connection points that do not feature in estrogen receptor binding. The 4-hydroxytamoxifen conjugates exhibit nanomolar range activity against the MCF-7 breast cancer cell line, paving the way to expand the scope and connectivity of prodigiosene-tamoxifen conjugates.