Microinvasive squamous cell carcinoma of the uterine cervix is a recognized entity and is defined as carcinoma with invasion of less than 5 mm penetration of the stroma and seldom metastasized. Our patient was a 70-year-old, multiparous woman who had a microinvasive, cervical, squamous cell carcinoma. The tumor had spread superficially into the entire endometrial cavity up to the fundus, totally replacing the columnar epithelium. This is an extremely rare phenomenon, with fewer than 20 cases reported so far in the literature.
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.
Nor Azian Abdul Murad, Sue-Mian, Then, Mohd Ridhwan Abdul Razak, Conjeevaram, Rajendrarao Thambidorai, Sri Noraima Othman, Rosniza Mohamad Hussain, et al.
Hirschsprung’s disease (HSCR) is a disorder associated with congenital absence of ganglion cells in the
gastrointestinal tract. Molecular analyses have identified variants in various genes including RET, GDNF,
EDN3 and EDNRB that are involved in the development, migration and survival of neural cells. Variants
in the receptor tyrosine kinase (RET) are most common and have been identified in 10-20% of sporadic
HSCR patients. The objective of this study was to screen for RET gene variants in Malaysian patients with
HSCR. Thirty-two patients with HSCR and 30 normal controls were recruited for this study. Mutations
were screened using the Polymerase Chain Reaction – Denaturing High Performance Liquid
Chromatography (PCR-dHPLC) approach. Mutations identified were then confirmed using Sanger
sequencing. We identified one novel rare variant in exon 4 (A268A c807 G>C) in one patient. We also
identified the common coding sequence variantsA45A (c135G>A), A432A (c1296A>G), L769L (c2307 T>G)
and the G691S in our cohort of patients. In conclusion, our Malaysian patients with HSCR diseases showed
the presence of similar RET gene common variants which have been described in other populations. We
have also identified a novel variant in exon 4 (A268A).
Synovial sarcoma is a rare soft tissue sarcoma of the head and neck region involving the parapharyngeal space. The diagnosis of synovial sarcoma can be very challenging to the pathologists. We present a rare case of parapharyngeal synovial sarcoma in a young female patient who had a two-month history of left cervical intumescent mass at level II. The fine needle aspiration cytology of the mass was proved inconclusive. Transcervical excision of the mass was performed and the first case of parapharyngeal sarcoma was identified in our center by fluorescence in situ hybridization (FISH) technique. Repeat imaging revealed residual tumor. The patient successfully underwent a second excision of the residual tumor and received adjuvant radiotherapy.
Ketamine can be abused as a recreational drug, and there has been a recent surge in its usage. The effects of ketamine on the urinary system were unknown until the recent publication of a few case reports. Many doctors are still unaware of this new clinical entity, termed ketamine-associated ulcerative cystitis. We report a case that we encountered and discuss the diagnosis and disease management in addition to a review of the literature.