This was a case of a young lady presenting with 10 year history of a mass in the right eye. It was found to be an adenocarcinoma of the lacrimal gland from histopathological biopsy. She underwent wide excision, orbital exenteration and reconstruction with a free rectus abdominis flap. Unfortunately, she had a tumour recurrence which was not controlled by radiotherapy and a second excision. The behavior of the tumour was aggressive, resulting in widespread metastases. She passed away within a year of her presentation. Of note, the histopathology report from the second excision turned out to be sarcomatoid carcinoma. This is described in the literature as dedifferentiation, or high grade transformation (HGT). Occurrence of dedifferentiation in salivary gland tumours is well-established, but not as well-described in lacrimal gland tumours. In this case, there was a severely delayed presentation of a lacrimal gland adenocarcinoma in a young person, which underwent dedifferentiation into a sarcomatoid carcinoma. This phenomena is associated with aggressive tumour biology behavior and poor prognosis, despite surgery and radiotherapy.
Ventriculostomy or external ventricular drain (EVD) placement by free-hand technique has a high malplacement rate. It is a blind procedure that often requires multiple attempts and revisions. To date, no neurological complication due to EVD malplacement has been reported in the literature. In this report, we present the first case of coma induced by a malplaced EVD and the patient regained consciousness after the drain was adjusted. Our discussion focused on various techniques that can improve the accuracy of EVD insertion. EVD insertion under image guidance provides better accuracy with limited disadvantages. We hypothesized that the patient's coma was due to the mass effect and irritation of the malplaced EVD exerted onto the ventral periaqueductal grey matter and the ascending neurons from upper brainstem.
Glioma is the most common primary brain tumour of the central nervous system. Many genetic alterations
and mutations have been identified in glioma using various approaches. We performed DNA sequencing on
the tumours of 16 patients with Grade I, II, III and IV glioma. The AmpliSeq Cancer Primers Pool was used
to generate the amplicons. The targeted-ion sphere particles were prepared using the Ion One Touch and
Ion Enrichment systems. DNA sequencing was performed on the Ion Torrent Personal Genome Machine
(PGM) and the data were analysed using the Torrent Suite Software.
In total, 14 mutations were identified in the following genes: KDR (Q472H), MLH1 (V384D), MET (N375S),
PTPN11 (E69K), BRAF (V600E), TP53 (D149E, E154K, V157F), IDH1 (R132H), PIK3CA (H1047R), CSF1R
(c1061_1061 ins A), KIT (M541L), PTEN (c1373_1373 del A) and PDGFRA (E556V). In addition, there were
four novel mutations identified; TP53 (E154K, and D149E), CSF1R (c1061_1061 ins A) and PDGFRA
(E556V). The pathogenicity prediction showed that only three mutations were pathogenic: PTPN11 (E69K),
BRAF (V600E) and Tp53 (E154K). These mutations result in changes of the proteins’ structure and could
affect their functions. Pathway analyses suggested that these genes are closely related to the pathogenesis of
GBM through several pathways such as proliferation and invasion, metabolism and angiogenesis.
In conclusion, PGM in combination with the AmpliSeq Cancer Panel could be utilised as a potential
molecular diagnostic tool not only for glioma but also for other cancers.