PIIS0031302518304471
PIIS0031302518304471
PIIS0031302518304471
be particularly useful in cases where direct immunofluorescence 22. FINDING LIVE DEER PLACENTA STEM CELLS IN
studies are negative. The reason for this is not clearly established. COMMERCIAL FOOD SUPPLEMENT CAPSULES
However, it may relate to increased stability of C4d compared USING CYTOLOGY, HISTOLOGY,
with other immunoreactants. IMMUNOHISTOCHEMISTRY, FLOW CYTOMETRY,
Reference ELEMENTAL ANALYSIS AND ELECTRON
1. Bullous pemphigoid: use of C4d immunofluorescent staining in a case
MICROSCOPY
with repeated negative conventional direct immunofluorescence
studies. Am J Dermatopathol 2017; 39: 932–4. L. D. Santos1,2, S. Gune1,2, M. Killingsworth1,2, M. Harvery1,2,
R. Wuhrer2, L. Nguyen1, X. J. Wu1, S. Sabapathy1,
C. Evangelista1, N. McNamara1, J. L. C. Yong1,2
21. RECURRENT HOTSPOT SF3B1 MUTATIONS IN 1
NSW Health Pathology, South (Liverpool), Australia; and
MUCOSAL MELANOMA: FREQUENCY AND IMPACT 2
Western Sydney University, Sydney, Australia
ON SURVIVAL
C. Quek1,2, P. Shang1, R. Rawson1,2,3, P. Ferguson1,2,3, Background: A company selling food supplement in Asia claims
R. Saw1,2,3, G. Long1,2,4,5, G. Mann1,2,6, R. Scolyer1,2,3, each capsule contains live deer placenta stem cells (0.2 g from
J. Wilmott1,2 freeze-dried 50:1 concentrated 10 g placenta), four oil types plus
1
Melanoma Institute Australia, Sydney, Australia; 2Sydney fruit, herb, marine organism and shark’s liver (weight from 0.005
Medical School, The University of Sydney, Australia; 3Royal to 0.2 g; total 0.885 g) and these live stem cells (SC) remain
Prince Alfred Hospital, Sydney, Australia; 4Royal North Shore bioactive for 2–4 years which provide live stem cell therapy.
Hospital, Sydney, Australia; 5Mater Hospital, Sydney, Aims: To confirm the presence of live deer placenta SC in the
Australia; and 6Centre for Cancer Research, Westmead Institute food supplement capsules.
for Medical Research, Sydney, Australia Methods: We conducted a prospective study using eight
randomly selected capsules. We described and weighed the
Background: Mucosal melanomas are a rare subtype of mela- capsules and contents, which were examined using cytology,
noma that account for ~1% of all melanomas. Mucosal mela- histology, frozen sections (FS), histochemistry, immunohisto-
noma patients often have poor clinical outcomes due to advanced chemistry (IHC), flow cytometry (FC), elemental analysis (EA)
stage at diagnosis and lack of effective systemic drug therapies. and electron microscopy (EM). EM and haemocytometer were
In contrast to cutaneous melanomas, mucosal melanomas are used for particles measurement and counting respectively.
rarely BRAF mutant. Identifying recurrently mutated driver Results and conclusions: The average weight of the capsules,
genes in mucosal melanoma will open novel opportunities for viscid contents and tough shells was 1.824, 1.124 and 0.7 g,
effective systemic therapies. respectively. Direct (Papanicolaou/Diff Quick) smears and wet
Aims: The study aimed to determine the frequencies of somatic mounts showed numerous oil globules and crystal-like structures;
SF3B1 mutations in mucosal melanomas, and to examine their no SC. Histology and FS (+oil red O) revealed similar crystal-like
clinical utility as molecular markers for diagnostic applications materials; no SC. IHC showed negative CD31/CD34/CD44/
and prognosis. CD117/CD133/S100 immunostaining. FC revealed insignificant
Methods: Using a novel dual-strand (DS) sequencing technique, CD45+CD34+ cells. EA showed osmium-rich, high lipid pro-
DNA was isolated from formalin-fixed paraffin-embedded portion heterogeneous material and protein-rich rhomboidal-
mucosal melanoma tissue from 27 patients. The amplicon li- shaped material with high uranium concentration. EM showed
braries were constructed for sequencing via Illumina MiniSeq lipid, collagen and bacteria. The presence of intracapsular oil,
system. Sequences were aligned to the UCSC hg19 assembly bacteria and fluid/water appeared detrimental/fatal to SC, if truly
using Burrows-Wheeler Aligner, and were subsequently marked they were present. In conclusion, we did not find live deer placenta
for duplicate reads using Picard. Somatic variants were detected SC. We confirmed the presence of oil and other solid materials.
using Illumina Amplicon DS Somatic Variant Caller.
Results and conclusions: We previously demonstrated that
splicing factor SF3B1 is a significant hotspot mutation in a large 23. PREVALENCE AND EXPRESSION PROFILE OF
cohort (n = 183 patients) of melanomas from various primary IMMUNE CHECKPOINT RECEPTORS IN UNTREATED
tumour sites.1 In this study, we analysed a targeted cohort of HUMAN MELANOMA
mucosal melanomas (n = 27) that was carefully selected to Jarem J. Edwards1,2,6, Annie Tasker1,6,
confirm their origin from mucosal sites. The genetic profiles Benjamin M. Allanson1,4, Robyn P. M. Saw1,2,3,
revealed common somatic variants in SF3B1 (9 of 27: 33%), KIT John F. Thompson1,2,3, Umaimainthan Palendira2,4,
(11 of 27: 40%), TP53 (15 of 27: 56%), CWH43 (16 of 27: 59%), Alexander M. Menzies1,2,5, Georgina V. Long1,2,5,*,
ATRX (16 of 27: 59%), SETD2 (18 of 27: 67%), CASP8 (23 of Richard A. Scolyer1,2,3,*, James S. Wilmott1,2,6,*
27: 85%), and CHD4 (24 of 27: 89%). Recurrent and novel 1
Melanoma Institute Australia, The University of Sydney, North
SF3B1 mutations at respective codon R625H/L and C1123Y Sydney, Australia; 2Sydney Medical School, The University of
predominantly occurred in vulvovaginal primary melanomas, Sydney, Sydney, Australia; 3Royal Prince Alfred Hospital,
and frequently were associated with commutations in SETD2 Sydney, Australia; 4Centenary Institute, The University of
(p = 0.011). Factors including gender (female) and SF3B1 mu- Sydney, Sydney, Australia; 5Royal North Shore Hospital,
tation were associated with poor survival outcomes. Sydney, Australia; and 6Charles Perkins Centre, The University
Reference of Sydney, Sydney, NSW, Australia; *contributed equally to
1. Hayward NK, Wilmott JS, Waddell N, et al. Whole-genome land-
this work
scapes of major melanoma subtypes. Nature 2017; 545: 175–180.