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Breast cancer is one of the most common cancers in Malaysia. Recently, a new nomenclature was introduced for breast cancers with human epidermal growth factor receptor 2 (HER2) immunohistochemistry (IHC) 1+, or 2+ with negative in situ hybridization (ISH), i.e., HER2-low breast cancer. In current clinical practice, these breast cancers are reported as HER2-negative. Clinical trials have shown that HER2-low breast cancer benefits from targeted therapy with anti-HER2 antibody-drug conjugates. Unfortunately, various challenges and obstacles are faced by local pathologists in HER2 testing, which may jeopardize the standard of care for patients with HER2-low breast cancer. This consensus guideline aims to elucidate standard practices pertaining to HER2 testing and HER2-low interpretation in Malaysia. Topics discussed among a panel of local experts include tissue sampling and handling, assay and antibody selection, result interpretation and reporting, and quality assurance. Practice recommendations made in this consensus guideline reflect current international guidelines and, where appropriate, adapted to the Malaysian landscape.
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An acutely locked knee is an incapacitating condition that requires urgent orthopedic intervention. Common causes of the locked knee include a tear of the meniscus, stump of a ruptured anterior cruciate ligament (ACL), loose body, and osteochondral injury. This report describes a rare case of an acutely locked knee due to the concurrent presence of a loose body and a degenerative osteophyte, highlighting the diagnostic challenges and treatment strategies employed for successful management. Notably, to our knowledge, there is no preceding report documenting the same etiology.
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Convergence-retraction nystagmus alongside behavioral changes can be rare manifestations of a potentially life-threatening midbrain lesion. After experiencing headaches for three months, a 13-year-old boy was diagnosed with depression due to exhibiting reduced speech, hypersomnia, and psychomotor slowing for three weeks. It was preceded by headache for three months. Examination revealed visual acuity of 6/6 bilaterally, convergence-retraction nystagmus worst on upgaze, limited bilateral ocular motility in upgaze, and light-near dissociation on pupil examination, all of which point towards Parinaud's syndrome. However, there was no lid retraction to suggest Collier's sign. Fundus examination revealed papilledema. Magnetic resonance imaging showed a large pineal mass extending to both thalami, dilated ventricles due to obstructive hydrocephalus, and cerebral edema. An urgent external ventricular drain was inserted, and biopsy revealed pineal gland germinoma. Chemotherapy and radiotherapy resulted in adequate tumor shrinkage. This case report highlights that subacute behavioral changes may mask a potentially life-threatening intracranial tumor, especially when associated with abnormal eye movement.
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Sebaceous carcinoma (SC) is a rare malignant skin neoplasm derived from the meibomian gland of adnexal epithelium, which is frequently confused with basal cell carcinoma (BCC), exhibiting sebaceous differentiation and commonly found in the head and neck regions. We report a case of penile sebaceous carcinoma, an extremely rare anatomical site for SC. A 68-year-old man presented with a 4-month history of painless, non-healing ulcerated nodules over the left side of the penile shaft. Wedge biopsy showed adenocarcinoma with signet ring differentiation. We proceeded with wide local excision (WLE) of the lesion with the inclusion of the indurated skin and 5 mm of normal margin, followed by primary closure of the scrotal defect and split skin grafting of the penile shaft by using a thigh skin donor. The final histopathological examination revealed sebaceous carcinoma with pagetoid spread. The patient achieved recurrence-free survival without any form of adjuvant therapy after 4 years of follow-up.
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A 57-year-old Malay nullipara initially presented with a right breast lump that was increasing in size but defaulted follow-up. Two years later, she developed a contralateral breast lump. She only returned to the hospital when the right breast lump had become painful, 4 years from its onset. The biopsy of the right breast lump was a phylloides tumor and that of the left breast lump was a carcinoma. She had bilateral palpable axillary lymph nodes. She underwent bilateral mastectomy and axillary dissection. The pathology report confirmed the right breast lesion to be a malignant phylloides and the left breast lesion to be a carcinoma (pT3N2). She declined adjuvant treatment. A year after the surgical operation of the metachronous lesions, she had a right chest wall recurrence with widespread pulmonary metastases. She was given palliative chemotherapy but succumbed several months later.
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Skin exposure to ultraviolet (UV) rays in the sun causes premature ageing and may predispose to skin cancers. UV radiation generates excessive free radical species, resulting in oxidative stress, which is responsible for cellular and DNA damage. There is growing evidence that phytonutrients such as flavonoids and carotenoids may impede oxidative stress and prevent photodamage. We conducted a systematic review of the literature to explore the effects of certain phytonutrients in preventing skin photodamage. We searched the electronic Medline (Ovid) and Pubmed databases for relevant studies published between 2002 and 2022. The main inclusion criteria were articles written in English, and studies reporting the effects of phytonutrient-containing plants of interest on the skin or skin cells exposed to UV radiation. We focused on tea, blueberries, lemon, carrot, tomato, and grapes, which are rich in flavonoids and/or carotenoids. Out of 434 articles retrieved, 40 were identified as potentially relevant. Based on our inclusion criteria, nine articles were included in the review. The review comprises three combined in vitro and animal studies, four human studies, one in vitro research, and one mixed in vitro and human study. All the studies reported positive effects of flavonoids and carotenoid-containing plant extract on UV-induced skin damage. This evidence-based review highlights the potential use of flavonoids and carotenoids found in plants in preventing the deleterious effects of UV radiation on the skin. These compounds may have a role in clinical and aesthetic applications for the prevention and treatment of sunburn and photoaging, and may potentially be used against UV-related skin cancers.
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Neoplasias Cutáneas , Quemadura Solar , Animales , Humanos , Rayos Ultravioleta/efectos adversos , Flavonoides/farmacología , Carotenoides/farmacología , Piel , Neoplasias Cutáneas/prevención & controlRESUMEN
Ceruminous adenoma is described as a glandular neoplasm of ceruminous glands. It is seen for less than one percent of all external ear tumours. Ceruminous adenoma cases were reported to have recurrence and residual tumour, however there was no malignant transformation known in ceruminous adenoma up to this date. Here, we report a young adult woman with two years history of progressive reduced hearing and tinnitus of the right ear. She was proven to have right moderate conductive hearing loss with pure tone audiometry. There was a cystic mass with serous content arising from the posterior wall of the right ear canal. We proceeded with wide local excision of the mass via trans-canal approach. Ceruminous adenoma was confirmed with histopathology and immunohistochemistry of CK7 staining. The hearing impairment was resolved completely post excision and there was no recurrence of the tumour on one year follow-up. We concluded wide local excision with appropriate margin of the mass is adequate to prevent recurrence in ceruminous adenoma cases.
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BACKGROUND: Human epidermal growth factor receptor 2 (HER2) over-expression in breast cancer is associated with aggressive tumor behavior and predicts response to targeted therapy. Accurate HER2 result is paramount for optimal patient management. However, routine HER2 immunohistochemistry (IHC) testing are subjected to intra- and inter-laboratory variability. OBJECTIVE: This study aims to determine inter-laboratory variation in HER2 IHC testing through a slide-exchange program between five main reference laboratories. METHOD: A total of 20 breast carcinoma cases with different known HER2 expression and gene status were selected by the central laboratory in five testing rounds. Three unstained tissue sections from each case were sent to participating laboratories, which immunostained and interpreted the HER2 immunohistochemistry result. One of the stained slides was sent to one designated participating laboratory for evaluation. Results were analyzed by the central laboratory. RESULTS: A complete concordance was achieved in six IHC-positive and six IHC-negative cases, its gene status of which was confirmed by in-situ-hybridization (ISH) study. The discordant results were observed in six equivocal cases, one negative case and one positive case with a concordance rate of 50-88.3%. Interestingly, the negative discordant case actually displays tumor heterogeneity. Good inter-observer agreement was achieved for all participating laboratories (k = 0.713-1.0). CONCLUSION: Standardization of HER2 testing method is important to achieve optimum inter-laboratory concordance. Discordant results were seen mainly in equivocal cases. Intra-tumoral heterogeneity may impact the final HER2 IHC scoring. The continuous quality evaluation is therefore paramount to achieve reliable HER2 results.
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Neoplasias de la Mama/genética , Neoplasias de la Mama/metabolismo , Carcinoma/genética , Carcinoma/metabolismo , Genes erbB-2 , Inmunohistoquímica/estadística & datos numéricos , Receptor ErbB-2/metabolismo , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Variación Genética , Humanos , Inmunohistoquímica/métodos , Persona de Mediana Edad , Reproducibilidad de los ResultadosRESUMEN
Mitochondria play important roles in regulating cell bioenergetics status and reactive oxygen species (ROS) generation. ROS-induced mitochondrial damage is among the main intracellular signal inducers of autophagy. Autophagy is a cellular catabolic process that regulates protein and organelle turnover, while a selective form of autophagy, mitophagy, specifically targets dysfunctional mitochondrial degradation. This study aims to measure the levels of autophagy, mitophagy, oxidative stress, and apoptosis in invasive breast carcinoma tissues using immunohistochemistry (IHC). Tissue microarrays of 76 patients with breast cancer were stained with six IHC markers (MnSOD, Beclin-1, LC3, BNIP3, Parkin, and cleaved caspase 3). The expression intensity was determined for each tumor tissue and the adjacent tumor-matched control tissues. Intermediate and strong staining scores of MnSOD, Beclin-1, LC-3, BNIP-3, and Parkin were significantly higher in tumor tissues compared to the adjacent matched control. The scoring intensity was further classified into tissues with negative staining and positive staining, which showed that positive scores of Beclin-1 and Parkin were significantly high in tumor tissues compared to other markers. Positive association was also noted between BNIP-3 and Beclin-1 as well as LC-3 and cleaved caspase-3 immunostaining. To our knowledge, this is one of the first studies that measure both mitophagy and autophagy in the same breast cancer tissues and the adjacent matched control. The findings from this study will be of great potential in identifying new cancer biomarkers and inspire significant interest in applying anti-autophagy therapies as a possible treatment for breast cancer.
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Plexiform neurofibroma represents an uncommon variant of neurofibromatosis type 1, constituting only 5%-30% of all cases. Plexiform neurofibroma is usually diagnosed during childhood and arises from multiple nerves, manifesting as bulging and deforming masses that can also involve connective tissue and skin folds. We report a case of a two-year-old girl who presented with worsening stridor since birth and later exhibited progressively increasing left neck swelling at the age of 10 months old. Ultrasound and magnetic resonance imaging (MRI) showed a lobulated solid mass in the left deep neck space extending to the midline and having a mass effect on the airway with involvement of the supraglottic region. Tracheostomy was done, and a biopsy of the supraglottic lesion revealed a plexiform neurofibroma. The patient was conservatively managed after a discussion with her parents concerning the associated potential of operative morbidity. The patient's parents had learned about tracheostomy care, and the patient was scheduled for yearly MRI surveillance. MRI was performed again three months after the initial diagnosis and showed stable lesion. Plexiform neurofibroma is a slow-growing tumor. A treatment decision must consider the benefits of surgery and the morbidity of the progressing disease. Hence, airway management is crucial prior to the final decision of such cases.
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OBJECTIVES: The objective of this study is to describe the imaging features of medulloblastoma (MB) and correlate the MR characteristics with the different histological subtype of MB with 2-year survival. MATERIALS AND METHODS: This is a retrospective descriptive study. A total of 29 patients diagnosed with MB from January 2005 to December 2015 were included in this study. The MRI brain and spine studies of these patients were retrieved and reviewed by a pediatric radiologist and a neuroradiologist independently, both blinded from the histological type of the MB. The HPE slides were also retrieved and reviewed by a pathologist. RESULTS: 80% of desmoplastic MB showed the presence of intracranial leptomeningeal seeding and 57.1% of anaplastic MB showed the presence of necrosis. The presence of intracranial leptomeningeal seeding (P = 0.002) and necrosis (P = 0.019) was predictive of the histological subtypes. There is a significant correlation between the enhancement pattern and the 2-year outcome (P = 0.03) with 6 out of 8 patients whose tumors showed minimal enhancement having disease progression within 2 years. A significant correlation was also seen between the presence of necrosis with a poorer outcome (P = 0.03) and between the HPE subtype and 2-year outcome (P = 0.03) with anaplastic MB having the poorest prognosis. CONCLUSION: MR imaging features of intracranial leptomeningeal seeding and the presence of necrosis were correlated with a specific histologic subtype of MB. The enhancement pattern as well as necrosis correlated with 2-year poorer outcome of the disease.
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Aortic malignant neoplasms are rare; these may be primary or secondary (metastatic). Increasing use of cross-sectional imaging has allowed better detection and diagnosis of these conditions. We encountered a young woman presenting with acute abdomen who was found on cross-sectional imaging to have a malignant tumor involving the aortic bifurcation. An en bloc excision of the tumor was performed, with distal aorta reconstruction using an aortoiliac Dacron graft; this was complicated with infection and graft occlusion, necessitating total removal and extra-anatomic bypass. A pathologic diagnosis of metastatic adenocarcinoma involving the aortic bifurcation, with an unknown primary, was made.
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Metastatic renal cell carcinoma (RCC) presenting with multiple deposits in the head and neck region is unusual. It is not uncommon for a RCC to metastasise to a distant site after years of a tumour-free period, but most of it would be expected to have a single site of deposit. We report a rare case of a patient who had a nephrectomy 10 years earlier for RCC and presented with tumours in the frontal sinus and posterior pharyngeal wall. Radiological imaging and histology confirmed metastatic RCC at both sites.