5th Decade Research Articles

Incidence of head and neck cancer among Baquba Teaching Hospital Patients

Background: Squamous cells lining the tissues of the head and neck region, such as the nasal cavity, paranasal sinuses, oral cavity, lip, salivary glands, and hypopharynx, give growth to a group of malignancies together recognized as squamous cell carcinoma of the head and neck, which is the seventh utmost communal cancer diagnosis around the world. Objective: Determine the prevalence of head and neck cancer in Diyala province during 2022-2023 and their distribution according to age and gender of patients. In addition, this study aimed to identify the numbers of each type of head and neck cancer. Patients and Methods: A retrospective study achieved on the prevalence of head and neck cancer in the region accomplished in oncology center of Baquba teaching hospital in Diyala province, Iraq. Head and neck cancer patients recorded from 2022 to 2023. During this dated, a total of 172 patients were recorded. A search was accomplished on numerous databases, moreover, the information evaluated by age, gender and cancer type. Results: Regarding patients during 2022 (first group) which is contained of (94) patients with different head and neck cancer, 38(40.4%) were males and 56(59.6%) were females with statistically significant relationship. The patients during 2023 (second group) comprises of (78) patients with different head and neck cancer, 43(50.1%) were men and 35(44.9%) were women with statistically no significant correlation. Conclusion: Oral and pharyngeal cancer is more common in men than in women. The most common age group is 4th and 5th decade for head and neck cancer.

Surgical Outcome of Tumors of Spinal cord, Nerve roots, Meninges, and Vertebral column – Our Experience in Tertiary level Hospital

Background: Spinal cord tumors can result in dramatic neurological and functional disabilities in the patients. We aimed to know the different types of spinal tumors and the correlation between clinical presentation and pathological findings and compare the outcomes of these tumors postoperatively. Methods: A total of 410 patients were included in the retrospective study group. The duration of the study was January 2016 to October 2022 (82 months). After a thorough clinical evaluation, patients were subjected to magnetic resonance imaging (MRI) and then surgery. They were described based on age, sex, location of the tumor, type of the tumor, symptoms, histopathological type, surgical resection, and complications. Results: The study included 229 (56%) males and 181 (44%) females and their ages ranged from 6 years to 74 years. Out of the 410 patients, 203(49.51%) had intradural extramedullary, 121(29.51%) had extradural and 86(20.98%) had intradural intramedullary spinal tumors. A predilection towards the thoracic region (39.50%) and cervical region (28.40%). Lumbar region (20.10%) and Sacral region (4.10%), Cervicodorsal region (1.40%), Dorsolumbar region (3.00%), and Craniovertebral junction (3.50%) were seen. The tumors were excised completely in 72.68% of the patients while neartotal resection was done in 17.82%, subtotal resection in 7.32%, and only biopsy in 2.2% of patients. Histopathologically most of the tumors were Schwannoma (38.78%), then Meningioma (11.71%), Ependymoma (11.70%), Astrocytoma (10.98%), and others were found. There was significant improvement (33.66%) in the modified McCormicks score at discharge follow-up. Conclusions: Intradural extramedullary is the most common spinal cord tumor. The majority of the cases presented with sensorimotor symptoms and pain is the predominant clinical complaint. Spinal cord tumors are most commonly observed in the 2nd to 4th decade of life with a gradual decline in the incidence towards the extremes of age group. Surgery is the definitive treatment and the aim of the surgery is gross total resection Bang. J Neurosurgery 2024; 13(2): 112-120

The clinical outcome, pathologic spectrum, and genomic landscape for 454 cases of salivary mucoepidermoid carcinoma

Mucoepidermoid carcinoma (MEC) is the most common malignant salivary tumor. A complete understanding of the high heterogeneity of MEC in histology and genetics would help in accurate diagnosis and treatment. Therefore, We evaluated the clinical features, treatment outcomes, and pathological parameters of 454 MECs and analyzed their genomic features using whole-exome sequencing and whole-transcriptome sequencing. We found that MECs predominantly occurred in females and those in their 4th–5th decades. The parotid gland was the most frequently affected site. All patients underwent complete mass resection with lobectomy; 414 patients were alive without relapse at follow-up, after an average period of 62 months (1–116 months). The disease progressed after initial treatment in 40 patients. The lungs were the most common site of distant metastasis. For classical MECs, histologic gradings of the AFIP, modified Healey, and MSK systems were significantly associated with recurrence and lymph nodal metastasis; these gradings were significantly related to lymph nodal metastasis for the subtypes. Older age, minor salivary gland involvement, clinical symptoms, high TNM stage, high-grade tumor, and improper surgical modality were the main prognostic factors. BAP1 was the most frequently mutated gene in MEC. Mutations in CDKN2A, MET, and TP53 were more frequently found in aggressive tumor phenotypes. MAML2 rearrangement was observed in 42% of patients, and EWSR1 rearrangement in 8%. Specific genetic events (in TP53 and FBXW7) with CRTC1::MAML2 fusion superimposed might be associated with unfavorable prognosis. This study provides new insights into precision therapeutic strategies for MEC.

Endoscopic Findings of a Patient Having Cholelithasis in SOMCH, Sylhet, Bangladesh

Introduction: Cholelithiasis is one of the most frequently encountered disease and one of the major causes of abdominal morbidity throughout world [1]. Cholelithiasis is one of the most common and costly of all digestive diseases. Common causes of upper abdominal symptoms are peptic ulcer, acute and chronic gastritis and gallstones. Objective: To assess the endoscopic findings of a patient having cholelithasis in SOMCH. Methods: This was Retrospective Hospital based study conducted at Department of Surgery, Sylhet MAG Osmani Medical College Hospital, Sylhet, Bangladesh from January to December 2022 were (One hundred patients were included). All patients underwent OGD after being diagnosed as having cholelithiasis proved by Endoscopic. All patients above 18 years of age presenting with upper abdominal pain, dyspepsia with or without jaundice diagnosed ultrasonically as cholelithiasis and choledocholithiasis with cholelithiasis were included in the study and patients managed conservatively, patients with primary choledocholithiasis and with asymptomatic gallstones were excluded from the study. Results: Out of 100 subjects evaluated during the study period, 58 were females and 42 males. The most common age group affected was between 31-50 years (65%), followed by less than 30 years of age being 18% and more than 50 years being 17%. It should also be noted the higher rate of incidence (65%) in the age group of 31-50 years. Associated symptoms with cholelithiasis were pain in abdomen, which was observed in all the patients (100%). Of these, 74 patients (74%) presented with chronic upper abdominal pain and 26 patients (26%) presented with acute upper abdominal pain. Remaining 56% of the subjects had positive endoscopic findings. Endoscopic findings were positive in 56 had hiatus hernia, duodinitis, duodenal ulcer or other positive findings. Among patients with positive findings 14 had both oeophagitis as well as gastritis while 12 had both gastritis as well as gastric ulcer. All the 56 patients (100%) underwent surgery. Forty patients (71.4%) underwent laparoscopic cholecystectomy, 14 (25.0%) open cholecystectomy and 2 cholecystostomy for empyema gall bladder. Of the 56 patients 40 patients (71.4%) patient had chronic cholecystitis, 9 patients (16.07%) had acute cholecystitis, 4 patients (7.14%) had carcinoma gall bladder, 2 (3.57%) had xanthogranulomatous cholecystitis and 1(1.78%) had cholesterolosis of gallbladder. Of the 4 patients diagnosed of carcinoma gallbladder, 1 patient had carcinoma confined to muscularis mucosa with negative margins and no metastasis, hence no further surgical management was advised and the rest of the 3 patients had either metastasis or positive margins which were managed as per standard guidelines. Conclusion: Cholelithiasis is commonly seen in females in 4th and 5th decade mainly presenting with abdominal pain and dyspepsia. Endoscopy the most common finding was gastritis, oesophagitis and gastric ulcer in decreasing order. There was no hiatus hernia, duodinitis or duodenal ulcer in our study. Patients presenting with dyspepsia and gall-stones in rural setup should be directly treated surgically. Multiple gallstones are common and Laparoscopic cholecystectomy offers best surgical management with 6.57% of conversion rate to open cholecystectomy, with lesser complications.

A Rare Case of Homozygous Hemoglobin G-Philadelphia & Alpha Thalassemia

Abstract Introduction/Objective Hemoglobin (Hb) G-Philadelphia (GPh) is an alpha chain gene variant caused by a missense mutation resulting in a change from Glu to Asp at position 68. This change leads to alterations in the Hb structure and oxygen affinity. The mutation is inherited in an autosomal codominant pattern allowing for an asymptomatic carrier state. While the most common alpha chain variant, GPh heterozygosity is still infrequent, estimated at 1:5000 in African Americans. In African Americans, GPh is frequently linked to an alpha thalassemia deletion. On its own it is considered a benign variant that does not result in significant health issues. Homozygous HbGPh frequency is estimated at 1 in 25 million. Methods/Case Report A postpartum woman in her 4th decade of life was found to have a Hb of 10.8 and a mean corpuscular volume of 74. Initial work up included Hb electrophoresis that quantified HbA at 0%, Hb F at 0%, HbA2 at 0%, and 2 Hb variants representing 96.1% and 3.8% of the total globin. The major Hb variant migrated in the D or G position by alkaline and acid gel Hb electrophoresis. The minor variant was consistent with HbG2. Due to this abnormal Hb electrophoresis, a sample was sent out for a Hb evaluation reflexive cascade (HERC). HERC analysis by high-performance liquid chromatography and capillary gel electrophoresis found 99.9% of Hb consistent with the alpha chain variant HbG. Analysis of the alpha globin gene region revealed 2 copies of an alpha globin gene deletion that was interpreted as alpha-thal trait (-a/-a). This result is consistent with homozygous alpha-thal-2 and homozygous HbGPh (alpha^G/thal + alpha^G/thal). Results (if a Case Study enter NA) NA Conclusion Alpha^G/thal + alpha^G/thal presents a unique and complex challenge for diagnosis due to its rarity and because HbG2 is not always visualized by alkaline gel electrophoresis. The presence of a Hb G or D variant, a HbG2 variant, and the lack of both HbA and HbA2 are key electrophoretic findings. Clinically, alpha^G/thal + alpha^G/thal behaves essentially like a homozygous alpha-thal-2 trait with persistent microcytosis and erythrocytosis. Thus, co- inheritance of the alpha-thal trait will be suggested by a thalassemic complete blood count pattern.

Aging Skeletal Muscles: What Are the Mechanisms of Age-Related Loss of Strength and Muscle Mass, and Can We Impede Its Development and Progression?

As we age, we lose muscle strength and power, a condition commonly referred to as sarcopenia (ICD-10-CM code (M62.84)). The prevalence of sarcopenia is about 5–10% of the elderly population, resulting in varying degrees of disability. In this review we emphasise that sarcopenia does not occur suddenly. It is an aging-induced deterioration that occurs over time and is only recognised as a disease when it manifests clinically in the 6th–7th decade of life. Evidence from animal studies, elite athletes and longitudinal population studies all confirms that the underlying process has been ongoing for decades once sarcopenia has manifested. We present hypotheses about the mechanism(s) underlying this process and their supporting evidence. We briefly review various proposals to impede sarcopenia, including cell therapy, reducing senescent cells and their secretome, utilising targets revealed by the skeletal muscle secretome, and muscle innervation. We conclude that although there are potential candidates and ongoing preclinical and clinical trials with drug treatments, the only evidence-based intervention today for humans is exercise. We present different exercise programmes and discuss to what extent the interindividual susceptibility to developing sarcopenia is due to our genetic predisposition or lifestyle factors.

Role of bone scan for investigation of breast cancer and its applicability in future management.

Objective: To find out the usefulness of bone scan in all stages of breast cancer. Study Design: Prospective Observation Study. Setting: Surgical Unit I & III Ghulam Muhammad Mahar Medical College Hospital, Sukkur. Period: October 2020 till September 2022. Methods: A total of 300 patients were selected who were newly diagnosed with breast cancer (Biopsy Proven). Data was collected for all these patients which included age, risk factors for breast cancer, findings on local examination, histopathology findings, stage of the cancer and result of the bone scan. Results: In our study, 78% patients were in 4th and 5th decade of life with mean age of 53.46±7.66 years. ‘Age above 40’ was the commonest risk factor for breast cancer followed by positive family history for breast cancer. Tumor size ranged from 2 to 13.2 cm with mean size of 6.06±1.92 cm. In our study, most common type of carcinoma was invasive ductal carcinoma (71.3%) followed by invasive lobar carcinoma (50%). Only 32 (10.67%) out of 300 patients had positive bone scan. Majority of the bone scan positive cases belonged to the Stage IIIB, IIIC and IV. Conclusion: It is concluded in our study that routine use of bone scan in cases of stage 1 and 2 breast cancer is not recommended; only stage 3A or advances cases should undergo bone scan.

8275 Recurrent Retroperitoneal Paraganglioma

Abstract Disclosure: J. Kang: None. V. Gupta: None. J.S. Subauste: None. Paragangliomas are rare, highly vascular neuroendocrine neoplasms that may originate from sympathetic or parasympathetic paraganglia and may secrete catecholamines. They are closely related to pheochromocytomas which are considered to be their intra-adrenal counterparts. A 65-year-old African American male with type 2 diabetes and tobacco use presented to his primary care physician with night sweats and unintentional weight loss of about 30 pounds in 3 months. Review of systems and laboratory workup was unremarkable. CT Chest/Abdomen/Pelvis with contrast showed a homogenous, well-circumscribed 4.6cm retroperitoneal mass causing mass effect on portal vein, Inferior vena cava, and right renal artery. Interventional radiology performed fine needle aspiration with intra-procedural blood pressure rising to 201/70 mmHg. Pathology showed paraganglioma, staining positive for synaptophysin, chromogranin A, CD 56 and S-100 protein. Plasma metanephrines were elevated at 2818 pg/mL, plasma normetanephrines at 1247 pg/mL with consistent 24-hour urine results. Workup for other adrenal hormones was negative. No family history of pheochromocytoma/paraganglioma or any clinical manifestations of Von-Hippel-Lindau syndrome or Neurofibromatosis were present. He was started on alpha blockade followed by beta blocker and surgical resection was planned. In the interim, escalating requirements of insulin were noted. Intra-operative course was complicated by systolic blood pressure rising to 290s which resolved after mass was removed. Immunohistochemical studies sent to Mayo, Rochester showed retained cytoplasmic SDHB expression in tumor cells. Hence, no further genetic testing was performed. Post excision, plasma-free metanephrines normalized with significant improvement in blood pressure and diabetes. He was followed with yearly plasma-free metanephrines for surveillance. Although asymptomatic, a three-fold rise of plasma metanephrines was noted five years later. CT Abdomen was concerning for recurrence. Dotate/PET scan showed dotate-avid para-aortic soft tissue lesion measuring 2.3 cm between the celiac artery and the superior mesenteric artery which was surgically excised with pathology consistent with paraganglioma (Ki67<1%). Diagnosis of paragangliomas is often in 3rd - 5th decade. About 30% are hereditary and associated with Von-Hippel-Lindau, Neurofibromatosis-1, MEN2A/B among other syndromes. They are mostly benign but SDHB pathogenic variants are likely to be malignant. Genetic testing should be considered in all paraganglioma patients to screen for germline pathogenic variants in SDH and other genes. Diagnosis of secretory paraganglioma is by urinary and/or plasma fractionated metanephrines and catecholamines. Treatment of choice is surgery when amenable to resection with preoperative medical blockade to prevent perioperative complications. Presentation: 6/1/2024

7229 A Rare Case of Igg4 Hypophysitis Presenting as Hypogonadotropic Hypogonadism

Abstract Disclosure: C. Dimech: None. G. Jaiswal: None. Hypophysitis is a rare pituitary disorder including a broad range of inflammatory processes which affect the pituitary gland and infundibulum. Previously reported as 1 per 9 million individuals, the true incidence of hypophysitis per year is largely unknown due to the increase of novel etiologies such as immunoglobulin G4 (IgG4)- related disease. IgG4-related hypophysitis (IgG4-RH) was first clinically described in 2004 and later biopsy proven in 2007. The main clinical features are elevated serum IgG4 level and IgG4-positive lymphocyte infiltration of tissues on histopathology. IgG4-RH is reported to account for 1.3% of primary hypophysitis with 3.2:1 incidence ratio of men to women, in the 6th decade of life. Here we present a case of a 68-year-old Caucasian male who presented for evaluation of hypogonadotropic hypogonadism. As fasting morning testosterone levels were significantly low, MRI pituitary was completed which revealed a homogenously enhancing pituitary gland with thickened, nodular enhancement of the pituitary infundibulum. Subsequent lab work-up revealed normal function of remaining anterior pituitary without evidence of central vasopressin deficiency. Evaluation of underlying etiologies was unremarkable except for significantly elevated IgG4 levels (472mg/dL). Based on the significantly elevated IgG-4 levels (>135 mg/dl) and the radiographic findings of the pituitary infundibulum, the diagnosis of possible IgG4-RH was made. The patient was initiated on treatment with rituximab and glucocorticoid therapy with prednisone. Following 3 months of medical therapy, MRI pituitary showed resolution of stalk inflammation, confirming diagnosis of IgG4- RH. Presentation: 6/1/2024

7191 When Pain Is Misdiagnosed: A Case of Parathyroid Carcinoma Masked as Fibromyalgia

Abstract Disclosure: H. Pham: None. P.V. Kumar: None. S. Taylor: None. Parathyroid carcinoma is a rare and aggressive cause of hyperparathyroidism, typically associated with <1% of primary hyperparathyroidism cases. Incidence occurs mainly in the 5th decade of life, with less than 4% of all cases presenting in patients under age 30. Here, we highlight a case involving a 28-year-old woman with fibromyalgia who presented for worsening right shoulder pain in the setting of progressive, poorly characterized pain for the past year. Her initial physical exam was unremarkable aside from a non-tender left sided neck enlargement. However, her laboratory results were significant for corrected serum calcium of 15 mg/dL, serum phosphorus of 2.3 mg/dL, parathyroid hormone (PTH) >2500 pg/mL, and alkaline phosphatase 1604 units/L. X-ray of her right shoulder demonstrated mottled bone concerning for degenerative disease. Thyroid ultrasound revealed a complex cystic lesion posterior to the left thyroid lobe measuring 5.3 x 3.9 x 2.9 cm, worrisome for giant parathyroid adenoma. CT abdomen/pelvis showed diffuse osteosclerosis and innumerable lytic lesions, consistent with osteitis fibrosa cystica, as well as bilateral nephrolithiasis, likely medullary nephrocalcinosis. Her hypercalcemia was treated with aggressive hydration with normal saline and IV pamidronate. She underwent surgical resection of her parathyroid adenoma, which was unfortunately complicated by symptomatic hypocalcemia requiring prolonged care in the ICU. Her calcium levels did improve within a few days, and she was subsequently discharged with close outpatient follow-up. Final pathology report showed predominant thickened trabecular growth pattern with focal vascular invasion consistent with parathyroid carcinoma. Our patient’s case represents a rare presentation of parathyroid carcinoma in a young patient without any additional risk factors. Although atypical, her severe symptomatic hypercalcemia, nephrolithiasis, presence of large neck mass, and diffuse skeletal disease warranted immediate concern for malignant hyperparathyroidism instead of benign adenoma. Delayed diagnosis in our patient led to prolonged bone disease and severe complications. While hungry bone syndrome typically manifests post-parathyroidectomy in patients with end-stage renal disease, our patient experienced this complication in the setting of advanced, untreated hyperparathyroidism. We should consider hypercalcemia and hyperparathyroidism in our differential diagnosis for chronic pain, especially if pain remains uncontrolled with conservative measures. The most appropriate initial test for evaluation of hypercalcemia is a PTH level to distinguish between PTH-dependent and PTH-independent etiologies. Parathyroid carcinoma, even in young patients, should be considered when PTH is >3x upper limit of normal, serum calcium is >14, or skeletal and renal involvement is present. Presentation: 6/3/2024

A study of noise-induced annoyance and fatigue in open-plan offices: comparison between hearing-impaired and normal-hearing listeners

Several studies outline a future scenario of longer working lives and later retirement, meaning that there could be a large number of elderly workers in offices. Add to this the natural effect of hearing loss due to ageing (presbycusis; which usually presents after the 5th decade of life) and you have an open door to questions regarding the acoustic comfort of this group. In a first study, it was shown that the effect of intelligible speech on performance in a serial recall task is similar for listeners with normal hearing and presbycusis. The aim of this new experiment is to assess whether any differences might occur when people are involved in a more ecologically valid task (long exposure to noise - 3 h/condition - and similar tasks to those performed in open-plan offices). Given the validation of a hearing loss simulator in previous studies, this one will be used to reproduce the group of people with mild hearing loss (onset of presbycusis). Therefore, the same group of people (32 participants) with normal hearing will perform the experiment under two listening conditions, with and without the simulator. Each listening condition will have two noise conditions, irrelevant speech, each with a different intelligibility level.

Monostotic fibrous dysplasia of jaw bones: a case series

Abstract Background Fibrous dysplasia (FD) is a benign fibro-osseous lesion, a skeletal developmental anomaly of the bone-forming mesenchyme. The diagnosis of fibro-osseous lesions, particularly those of the jaw bones, poses significant challenges to clinicians and pathologists since it requires a correlation of clinical, radiological, histological, and surgical findings. Accurate and specific diagnosis is crucial as treatment modalities differ with different fibro-osseous lesions. Methods This retrospective analysis presents a case series of a rare condition of monostotic FD in the maxillofacial region affecting jaw bones diagnosed and/or treated over period of 10 years. Results Five cases of monostotic FD were diagnosed and treated between a period of 2013 and 2023. The cases from the 2nd to 8th decade were included in the analysis with equal involvement of males and females. Out of five cases, four cases were involving maxilla and 1 showed involvement of mandible. Conclusion FD is a rare entity affecting the jaw bones which often lead to disfigurement of face. Early detection is warranted to decrease potential complications. In addition, genetic analysis could help in understanding the occurrence in certain population.

Reconstruction of Pathology Induced Anterior Maxillary Defect: A Case Report

A cyst is defined as a pathologic cavity lined by epithelium. Nasopalatine duct cysts (NPDC) are of non-odontogenic origin arising from epithelial remnants from two embryonic nasopalatine ducts. These cysts may form anywhere along the ducts’ course, which runs from posterior palatal midline to the soft tissue palatine papilla also known as the incisive papilla. NPDC often develop between the 4th and 5th decades of life with men being affected more than women (2:1 ratio). They are typically asymptomatic but present with palatal swelling in the anterior maxillary region. Larger cysts may create a labial expansion in addition to a midpalate expansion which is usually compressible due to resorption of bone beneath the mucosa. Radiography often shows a well demarcated round or pear-shaped radiolucency superimposed on the incisive canal, tooth displacement or divergence of roots may be observed. This pathology is usually greater than 6mm in size which differentiates it from the incisive canal. Differential diagnoses often include a periapical granuloma or radicular cyst from nonvital central incisors, however a palatal radiolucency and expansion represents a NPDC until proven otherwise. Typical treatment includes enucleation and curettage with low recurrence rates.

Plummer-Vinson syndrome: Clinical, therapeutic and evolutionary aspects: a Moroccan case series

Plummer Vinson syndrome (PVS) is a rare entity characterized mainly by upper dysphagia, irondeficiency anemia, and the presence of an esophageal ring on endoscopic examination. We conducted a retrospective study over a period of 18 years describing the epidemiological and clinical profile, endoscopic management and the medium and long-term evolution. A total of 96 patients were enrolled, with a median age of 41,5 years and a clear female predominance (19/77). dysphagia was present in almost all our patients (97,9%), and an anemic syndrome in half the cases (52%). Female gender was significantly associated with PVS occurrence (p=0.002). The frequency of the disease was significantly higher after the age of 30 years with a peak in frequency in the 4th decade (p<0.034). Upper endoscopy found a membranous ring located in the cervical area in all cases. 1 patient had, in addition to the plummer vinson ring, a lower esophageal membranous called Schatzki ring with a small sliding hiatal hernia. PVS was associated with other autoimmune diseases mostly represented by celiac disease and autoimmune thyroiditis. Treatment was based on iron supplementation followed by endoscopic dilatation with Savary dilators in 91,6% (n=88) and balloons for 8,3% of cases (n=8). long-term outcome was favorable in 79.1% of patients with no clinical recurrence. 20,8% patients relapsed after a median of 29,2 months [2-72 months] requiring a second dilation. PVS was complicated by squamous cell carcinoma in 5,2% (n=5).

PATTERN OF HER-2 EXPRESSION WITH SPECIAL REFERENCE TO LOW HER-2 EXPRESSION IN IHC SAMPLES OF BREAST CANCER PATIENTS AT TERTIARY CANCER HOSPITAL HCG AHMEDABAD

Background: Breast cancer is the 2nd most common cancer worldwide and number one cancer in women. As per American Society of Clinical Oncology 2018 guidelines, HER2 classification is binary HER2 positive and HER2 negative. DESTINY-Breast04 trial (2022), the FDA expanded the approval of the HER2 antibody-drug conjugate (T-Dxd) from metastatic breast cancer patients with HER2 protein over-expression/amplification, to also include metastatic patients with HER2 IHC 1+ or 2+ & ISH negative results. This clinical trial adopted a new terminology, HER2 Low, which successfully prolonged both progression-free survival (PFS) and overall survival (OS). Material and Method: A descriptive and retrospective analysis was performed, including all patients diagnosed with Invasive breast cancer in HCG cancer Centre, Ahmedabad- Triesta Laboratory between 1st July 2022 to 31st June 2023. Total of 395 patients of both genders were studied. All those individuals who were diagnosed with Invasive breast carcinoma according to WHO and CAP guideline by H&E, IHC and FISH test were included in our study and those with missing data were excluded from our study. Result: This was a descriptive and retrospective study where 395 cases were diagnosed as breast cancer. HER2 low pattern was found commonly in 4th and 6th decades of life. In our study, out of 395 cases, 34.9% (n = 138) were HER2-negative, 39.5% (n = 156) were HER2-low, and 25.6% (n = 101) were HER2-positive. Among 156 HER2-low cases, 15.4% (24/156) cases were hormone negative, and 84.6% (132/156) cases were hormone positive. Conclusion: We observed that approximately 40 % of the cases were recategorized to be HER2 low which were classified HER2 negative according to old guidelines. Approximately 84% cases of HER2 low group were hormone positive. With the development of novel ADCs and other targeted agents, the treatment strategies for HER2-low breast cancer are expanding, and hence detecting low expression levels of HER2 is important.

Magnetic resonance imaging findings in cervical pathologies and its’ correlation with patient´s body mass index in Anambra state, Nigeria: a cross-sectional study

Background: Subsequent to the multitude of cervical pathologies with aging, this study aims to determine the prevalence and pattern of magnetic resonance imaging (MRI) cervical pathologies and its correlation with body mass index (BMI). Methods: A cross-sectional retrospective study was conducted in some selected diagnostic centres in Anambra State, Nigeria using 141 MRI data that met the inclusion criteria. Data were collected from patients` request cards, MRI screening form and MRI scan reports. Both descriptive and inferential (Pearson`s correlation test) were used as tools for statistical analysis. The level of significance was set at the level of less than 0.05. Results: Out of the 141 sample size, the majority 93(66%) were males while females accounted for 48(34%). The greater number 36(25.4%) of patients were within the age range of 61-70years of age. Greater number 83 had normal BMI (18.5-<25) and the least 3 were underweight (<18.5), 50 were overweight (25-<30) and 5 were obese (>30).Out of the 141 patients, most 68(48.2%) had single pathology, 51(36.2%) had double pathologies and few patients 22(15.6%) had multiple pathologies. There was a negative correlation between pathology and BMI that is not statistically significant(r= -0.04, p = 0.63). Also, there was negative correlations between patterns of spinal involvement and BMI, which is not statistically significant ( r= -0.130, p = 0.126).Conclusion: There is prevalence of cervical pathologies mostly in males in their 6th decade and the 4th decade with more of single pattern pathologies. The common level of involvement is at C5 vertebra. Intervertebral osteochondrosis and spondylosis was found to be the commonest cervical pathology among the study population. However, there was no statistically significant correlation between cervical pathologies and its pattern of occurrence with body mass index

Intraocular pressure and gonioscopic findings in primary angle-closure disease in India-a big data study.

To describe the gonioscopic profile and intraocular pressure (IOP) in primary angle-closure (PAC) disease in patients presenting to a tertiary eye care network in India. A cross-sectional hospital-based study that included 31 484 new patients presenting between 2011 and 2021. Patients with a clinical diagnosis of PAC/suspect/glaucoma were included. The data was collected from an electronic medical record system. PAC glaucoma (PACG) (47.55%) was the most common diagnosis followed by PAC (39.49%) and PAC suspect (PACS; 12.96%). Female preponderance (54.6%) was noted with higher mean age at presentation among males (P<0.0001). PACS and PAC showed the highest prevalence in 6th decade but PACG was higher at 7th decade. The probability of angle opening was 95.93%, 90.32% and 63.36% in PACS, PAC and PACG eyes respectively post peripheral iridotomy (PI). Plateau iris syndrome (PIS) was noted in 252 eyes and all showed post dilated rise of IOP. A post dilated IOP rise was also noted with 8.86%, 33.95% and 57.19% eyes with PACS, PAC and PACG respectively with IOP rise between 6-8 mm Hg across the disease spectrum. The superior quadrant is the narrowest angle and difficult to open with indentation and post PI. The probability of angle opening is less in PIS especially the complete variety along with post dilated IOP rise. The post dilated IOP rise in angle closure eyes warrants a careful dilatation, especially with PIS.

Plexiform Variant of Ameloblastoma in Body of Mandible: Case Report and Review of Literature

Ameloblastoma is a benign but locally aggressive odontogenic epithelial neoplasm arising from remnants of dental lamina and dental organ [1,4]. This neoplasm is more prevalent between 2nd to 4th decade of life and mandible (11%) is more commonly involved than maxilla (1%) [2,5]. It has an aggressive behavior and recurrent course, It is rarely metastatic. Ameloblastoma represents 10% of odontogenic tumors and 1% of all tumors and cysts involving the maxillo mandibular region [1]. The World Health Organization (WHO) classification of 2017 describes ameloblastomas of the following four types: Solid/multicystic ameloblastoma (91%) unicystic ameloblastoma (6%); extraosseous/peripheral ameloblastoma (2%); and metastasizing ameloblastoma (1%). [3,8] A conclusive diagnosis can only be made by histopathology because it has wide range of histologic patterns and has radiographic characteristics with other lesions such the odontogenic keratocyst, giant cell tumour, aneurysmal bone cyst, and renal cell carcinoma metastasis.[5] Treatment for each type of ameloblastoma differs depending on its biological behaviour and rate of recurrence. This report presents a case of ameloblastoma involving the body of mandible with resorption of the root apices of canine, premolars and first molar. The lesion extends till the base of mandible with intact lower border. This was surgically excised preserving the lower border of mandible with safe sound margins of bone.

Challenges in Diagnosis of Melanoma from the Perspective of a Pathologist

Introduction: Melanoma is an aggressive melanocytic neoplasm with a continuously increasing incidence worldwide. Vast majority of melanoma arises from skin whereas a small subset of melanoma can arise as a primary malignancy of mucosal membranes. Gastrointestinal (GI) melanoma is usually metastatic in origin whereas primary GI melanomas are extremely rare. Anorectal Melanoma comprises of 1/% of all malignant neoplasms of this area. About 70% of these lesions are pigmented whereas 30% of them are amelanotic. Upto 25% of the patients with melanoma develops recurrent disease locally or in regional lymph nodes. Materials And Methods: This is a prospective study conducted in a tertiary care hospital comprising of six cases of Melanoma. We studied the cases according to their age, sex, clinical presentation, site, radiological findings, histopathological findings, immunohistochemical findings and treatment provided. Results: This study comprises of six cases of Melanoma among which five cases are primary one case is recurrent. Among the five primary cases, four cases have GI origin (sigmoid colon, rectum, anal canal) one case originated from skin involving left foot. There is a single case of recurrent MM involving right inguinal lymph nodes with a history of primary MM in the right lower limb. The patients belong to the age group of 6th to 8th decade with male preponderance. Histopathological examination of formalin fixed paraffin tissue sections was done followed by Hematoxylin &amp; Eosin and Immunohistochemical staining which confirmed the diagnosis of Melanoma. Conclusion: Melanoma is an aggressive melanocytic neoplasm that carries a poor prognosis. It commonly involves skin. Its occurrence in GI tract is rare in which primary lesions are exceedingly unusual. Diagnosis and Treatment require multidisciplinary team approach with surgery remaining as a cornerstone of treatment.

Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies

PURPOSETo describe phenotypic, genotypic, and histopathological features of inherited retinal dystrophies associated with the CRX gene (CRX-RDs). DESIGNRetrospective multicenter cohort study including histopathology. SUBJECTSThirty-nine patients from 31 families with pathogenic variants in the CRX gene. METHODSClinical data of 152 visits were collected from medical records with a median follow-up time of 9.1 years (IQR, 3.3-15.3 years; range, 0.0-48.8 years). Histopathologic examination of the eye of a 17-year-old patient with advanced early-onset CRX-RD was performed. MAIN OUTCOME MEASURESVisual acuity, retinal imaging, electroretinography (ERG), genotype-phenotype correlation, and histopathological examination were evaluated. RESULTSThe age at onset ranged from birth to the 8th decade of life. Median visual acuity was 1.00 logMAR (IQR, 0.69-1.48 logMAR; range, 0.06-3.00 logMAR) at a mean age of 52.0 ± 19.9 years (range, 4.6-81.9 years). Sufficient imaging was available for 36 out of 39 patients (92.3%), and all showed degeneration of at least the macula. Out of these 36 patients, 22 (61.1%) had only macular dystrophy. Another 10 patients (27.8%) had additional degeneration beyond the vascular arcades, and 4 patients (11.1%) panretinal degeneration. Two patients (5.1%) had Leber congenital amaurosis (LCA). In total, 21 different disease-associated heterozygous CRX variants were identified (10 missense, 8 frameshift, 2 deletion, 1 deletion-insertion variants). Missense variants in the CRX homeodomain and two variants deleting all functional domains, thus causing haploinsufficiency, generally tended to cause milder late-onset phenotypes.Histopathologic examination of the eye of a 17-year-old patient with advanced early-onset retinal dystrophy due to a heterozygous deletion of exons 3 and 4 of the CRX gene revealed loss of laminar integrity and widespread photoreceptor degeneration especially in the central retina, with extensive loss of photoreceptor nuclei and outer segments. CONCLUSIONThis study illustrates the large clinical and genetic heterogenic spectrum of CRX-RDs, ranging from LCA to mild late-onset maculopathy resembling occult macular dystrophy. Haploinsufficiency and missense variants tended to be associated with milder phenotypes. Patients showed degeneration predominantly affecting the central retina on imaging. The histopathological findings also mirror these clinical findings and features similar to previously reported animal models of CRX-RDs.