Transducer-like enhancer of split 1 (TLE1) expression as a diagnostic immunohistochemical marker for synovial sarcoma and its association with morphological features

Synovial sarcoma (SS) is a malignant soft tissue tumour of uncertain histogenesis which is defined by the translocation t(X;18) that produces the fusion oncogenes SYT-SSX. The emergence of transducer-like enhancer of split 1 (TLE1) as a new immunohistochemical (IHC) marker for SS has offered an alternative to pathologists in differentiating SS from other histological mimics, especially in the setting of limited molecular facilities. We investigated the utility of IHC TLE1 expression against histomorphological features and other IHC markers in SS and non-SS tumours. Twenty-six cases of histologically diagnosed SS and 7 non-SS (for which SS was in the differential diagnosis) were subjected to TLE1 IHC staining, which was graded from 0 to 3+. Of the 26 SS cases, 12 each were biphasic and monophasic types and 2 were poorly-differentiated. TLE1 was expressed in 22/26 (84.6%) SS cases, of which 11/12 (91.7%) were biphasic, 10/12 (83.3%) monophasic and 1/2 (50%) poorly-differentiated tumours. Two of 7 (28.6%) non-SS cases were positive for TLE1. Immunopositivity of SS and non-SS cases for EMA were 20/26 (76.9%) and 2/7 (28.6%) respectively and for CK7 were 7/26 (26.9%) and 0/7 (0%) respectively. All cases were negative for CD34. Consistent histomorphological features for SS included mild nuclear pleomorphism, alternating tumour cellularity, fascicular growth pattern and thick ropy stromal collagen. In conclusion, TLE1 is not a stand-alone diagnostic IHC marker for SS. However, in the absence of molecular studies, it can contribute added diagnostic value in combination with morphological evaluation and other IHC markers such as EMA and CD34

Hypertension in the absence of urinary abnormalities – an unusual presentation of anaphylactoid purpura

Henoch-Schonlein Purpura (HSP) or anaphylactoid purpura, currently named IgA vasculitis is the most common form of systemic vasculitis in children. In adults and young infants, HSP tends to have atypical presentations with higher rates of severe gastrointestinal problems and delayed renal complications. While hypertension is a known complication of HSP nephritis, it is rarely seen in individuals with normal renal function and urinary findings. We report a case of a 7-year-old boy with HSP, who presented with abdominal pain and severe hypertension without other features of glomerulonephritis

Transducer-like enhancer of split 1 (TLE-1) expression as a diagnostic immunohistochemical marker for synovial sarcoma and its association with morphological features

Synovial sarcoma (SS) is a malignant soft tissue tumour of uncertain histogenesis which is defined by the translocation t(X;18) that produces the fusion oncogenes SYT-SSX. The emergence of transducer-like enhancer of split 1 (TLE1) as a new immunohistochemical (IHC) marker for SS has offered an alternative to pathologists in differentiating SS from other histological mimics, especially in the setting of limited molecular facilities. We investigated the utility of IHC TLE1 expression against histomorphological features and other IHC markers in SS and non-SS tumours. Twenty-six cases of histologically diagnosed SS and 7 non-SS (for which SS was in the differential diagnosis) were subjected to TLE1 IHC staining, which was graded from 0 to 3+. Of the 26 SS cases, 12 each were biphasic and monophasic types and 2 were poorly-differentiated. TLE1 was expressed in 22/26 (84.6%) SS cases, of which 11/12 (91.7%) were biphasic, 10/12 (83.3%) monophasic and 1/2 (50%) poorly-differentiated tumours. Two of 7 (28.6%) non-SS cases were positive for TLE1. Immunopositivity of SS and non-SS cases for EMA were 20/26 (76.9%) and 2/7 (28.6%) respectively and for CK7 were 7/26 (26.9%) and 0/7 (0%) respectively. All cases were negative for CD34. Consistent histomorphological features for SS included mild nuclear pleomorphism, alternating tumour cellularity, fascicular growth pattern and thick ropy stromal collagen. In conclusion, TLE1 is not a stand-alone diagnostic IHC marker for SS. However, in the absence of molecular studies, it can contribute added diagnostic value in combination with morphological evaluation and other IHC markers such as EMA and CD34

Small cell neuroendocrine carcinoma: a rare second primary malignancy after treatment of nasopharyngeal carcinoma

Small cell neuroendocrine carcinoma (SCNEC) of the nasopharynx and nasal cavity is a rare condition. It is an aggressive malignancy with a high recurrence rate. Despite its rarity in the sinonasal region, it may occur as a second primary malignancy. Patients with cancer of the head and neck region are more prone to develop a second primary tumor due to the field cancerization phenomenon, and a higher incidence is seen in those who have previously received radiation therapy. A detailed clinical and histopathological examination is pivotal to diagnose SCNEC as a second primary malignancy. We wish to highlight such a peculiar case from our center

Diagnostic pitfall in fine needle aspiration cytology of pilomatrixoma with unusual clinical presentation

Pilomatrixoma (PMX) is a benign skin adnexal tumour with matrical differentiation. It frequently presents as a painless and slow growing solitary skin nodule primarily at the head, face and neck regions. Although there is increasing understanding on the clinical presentations and morphological features of PMX, difficulties are still expected in establishing the clinical and cytological diagnosis. We report a young girl who presented with a painless post-auricular swelling for one year with sudden increased in size. Computed Tomography (CT) scan and fine needle aspiration cytology (FNAC) findings were suggestive of a malignancy. Diagnosis of PMX was established and confirmed by tissue histopathological examination. The purpose of this study is to demonstrate the diagnostic pitfall of PMX in FNAC specimens, especially in patients with unusual clinical presentations

Protective effect of Tualang honey against cadmium-induced morphological abnormalities and oxidative stress in the ovary of rats

Background: To investigate the protective effects of Tualang honey against the toxicity effects induced by cadmium (Cd) on the ovary. Methods: A total of 32 female Sprague Dawley rats were taken and randomly divided into four groups (n = 8). Throughout the experimental period of 6 weeks, negative control-NC (vehicle deionized water), positive control-CD (Cd at 5 mg/kg), Tualang honey followed by Cd exposure-TH (Tualang honey at 200 mg/kg and Cd at 5 mg/kg) and Tualang honey control-THC (Tualang honey at 200 mg/kg) groups, were administered orally on a daily basis. Results: Rats exposed to Cd were significantly higher in ovarian weight, number of antral and atretic follicles as compared to the NC group. The disruptive effects of Cd on ovarian follicles were associated with a disruption in gonadotropin hormones and decreases in follicular stimulating hormone (FSH) and luteinizing hormone (LH). Moreover, a significant formation of oxidative stress in ovarian Cd-exposed rats has been proven by increasing the level of lipid peroxidation products (malondialdehyde) and decreasing the levels of enzymatic antioxidant (catalase). Interestingly, a daily supplementation of high antioxidant agents such as Tualang honey in these animals, caused significant improvements in the histological changes. Additionally, less atretic follicles were observed, restoring the normal level of LH and FSH (P < 0.001), and normalizing the ovarian malondialdehyde (P < 0.05) and catalase levels in comparison with CD group (P < 0.05). Conclusions: Tualang honey has protective effects against Cd-induced ovarian toxicity by reducing morphological abnormalities, restoring the normal levels of gonadotropin hormones and stabilizing equilibrium levels of lipid peroxidation and antioxidant enzyme in ovaries of rats. SITI SARAH BINTI MOHAMAD ZAID// SITI SURAYA BINTI RUSLEE, IKMAL HISYAM BIN BAKRIN, NOORDIN BIN MOHAMED MUSTAPHA, GOH YONG MENG

Cutis Verticis Gyrata secondary to cerebriform intradermal naevus: a rare entity and its management

Cutis verticis gyrata (CVG) is a rare skin disorder characterised by thick skin folds and grooves, resembling the gyri and sulci of the cerebral cortex. It can be classified as primary essential, primary non-essential and secondary CVG. The rarity of the condition poses a challenge in the diagnosis and ultimately requires good communication between the clinician and the dermatopathologist for diagnosis. Many names have been given to the condition, including Robert-Unna syndrome, cutis verticis plicata, paquidemia verticis gyrata, cutis sulcata, cutis striata or “bulldog” scalp syndrome. To date, the treatment is still limited to plastic surgeons with excision of the folds, scalp reduction and reconstruction. In this article, we are sharing a rare case and the surgical management of a middle age gentleman with cutis verticis gyrata secondary to cerebral intradermal nevus (CIN) over his occipital scalp

Lipoma arborescens of the knee: a case report of rare entity

Lipoma arborescens is a non-neoplastic, reactive condition due to chronic synovial inflammation and irritation, characterized by frond-like or villous proliferation of mature adipose tissue covered by hyperplastic synovium. The knee is the most commonly affected site particularly the suprapatellar pouch. We report a case of lipoma arborescens affecting the right knee of an elderly Chinese gentleman associated with bilateral knee and hand osteoarthritis. He presented with progressive worsening of right knee swelling and pain. Partial synovectomy of the right knee was performed and no lesion recurrence was noted at one year post-operation. The clinical and imaging findings, pathological features, together with differential diagnoses were discussed

Antinuclear antibodies in non-systemic autoimmune rheumatic disease dermatological conditions

Antinuclear antibodies (ANA) indirect immunofluorescence assay (IFA) is the first line immunological investigation, mainly for systemic autoimmune rheumatic disease (SARD). However, ANA is also being requested in certain dermatological conditions particularly in those with immune dysregulation as underlying pathogenesis. It is not uncommon to get positive ANA results in patients with non-SARD dermatological conditions. However, the clinical significance and usefulness of ANA has not been well established. This review summarises the available studies on ANA IFA in non-SARD dermatological conditions which include atopic dermatitis (AD), psoriasis, vitiligo and autoimmune bullous diseases. It aims to determine the prevalence of ANA, the commonly reported ANA titres and patterns, as well as any clinical associations between ANA and non-SARD dermatological conditions

Endocrine mucin-producing sweat gland carcinoma - newly described skin appendageal tumours

Introduction: Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a recently described adnexal tumour with a predilection for the face particularly the eye-lids. Considered to be a precursor lesion of mucinous adenocarcinoma, it may represent part of a morphological spectrum. We described a case of this entity, which we believe is the first case to be reported in Malaysia. Case report: A 59-year-old Chinese male presented with a slow-growing cystic lesion over the left lower lateral canthal region. The lesion became progressively larger and nodular within the last 6 months. Histologically, the lesion is a well-circumscribed intradermal tumour with pushing borders extending into the subcutaneous tissue. The tumour cells were arranged in lobules of solid, papillary and cribriform architecture. The cells displayed uniform, medium-sized, round to oval nuclei with stippled chromatin pattern and ample eosinophilic granular cytoplasm. Intracellular mucin (as highlighted by mucicarmine stain) was observed in areas with focal extracellular mucin seen. Mitotic figures were not particularly impressive. By immunohistochemistry study, the tumour cells expressed ER, PR, CK7, GCDFP-15, mammaglobin and EMA diffusely. Chromogranin A and synaptophysin highlighted a significant number of tumour cells. Discussion: The morphology and immunohistochemical profile similarities between EMPSGC and solid papillary carcinoma of the breast (SPCOTB) makes the former considered as the cutaneous analogue of the latter. In fact, one should rule out the possibility of metastatic SPCOTB before considering the diagnosis of EMPSGC