Enteric duplication cysts in paediatric population along with literature review / Quistes de duplicación entérica en población pediátrica y revisión de la literatura

The clinical presentation of enteric duplication cysts is dependent on the location of the cyst with symptoms varying from nausea and vomiting to abdominal distension, pain and perforation. Four patients were identified who were diagnosed with enteric duplication cysts within the period from 2019 to 2023. Three of the patients presented with signs of intestinal obstruction-abdominal distension and pain, while one had an antenatally detected abdominal mass. There were three boys and one girl with ages ranging from 4 months to 14 years. Three cases of ileal and one case of caecal duplication cyst were reported. Most of the cases showed ileal/caecal mucosa while one case demonstrated ectopic gastric mucosa. The treatment of these cysts includes surgical excision. Although radiological investigations help in arriving at a provisional diagnosis, the final diagnosis can be confirmed only after histopathological examination. Early treatment prevents complications and results in a good prognosis for the patient. (AU)

La presentación clínica de los quistes de duplicación entérica depende de la ubicación del quiste, y los síntomas varían desde náuseas y vómitos hasta distensión abdominal, dolor y perforación. Se identificaron cuatro pacientes que fueron diagnosticados con quistes de duplicación entérica en el período de 2019 a 2023. Tres de los pacientes presentaron signos de obstrucción intestinal (distensión abdominal y dolor), mientras que uno tenía una masa abdominal detectada prenatalmente. Eran tres niños y una niña con edades comprendidas entre 4 meses y 14 años. Se notificaron tres casos de quiste de duplicación ileal y un caso de quiste de duplicación cecal. La mayoría de los casos mostraron mucosa ileal/cecal, mientras que un caso mostró mucosa gástrica ectópica. El tratamiento de estos quistes incluye la escisión quirúrgica. Aunque las investigaciones radiológicas ayudan a llegar a un diagnóstico provisional, el diagnóstico final solo puede confirmarse después del examen histopatológico. El tratamiento precoz previene complicaciones y redunda en un buen pronóstico para el paciente. (AU)

Metastasizing pleomorphic adenoma of the parotid gland: A common tumour with a very unusual presentation / Metástasis de adenoma pleomorfo de la glándula parótida: un tumor frecuente con una presentación muy poco habitual

Metastasizing pleomorphic adenoma is recognized as a subtype of pleomorphic adenoma in WHO classification 5th edition of salivary glands. The controversy pertaining to the entity is the benign features of the disease even at a metastatic site. We present a rare case of left recurrent pre-auricular swelling in a young male reported as metastasizing pleomorphic adenoma. A nineteen-year-old male presented with left preauricular swelling seven years ago which was diagnosed as pleomorphic adenoma and underwent complete excision of tumour. The tumour recurred twice – two and five years after the surgery. At the second recurrence, the level II neck dissection showed multiple encapsulated deposits of pleomorphic adenoma having similar morphology in the cervical soft tissue with no features of high-grade transformation. (AU)

La metástasis de adenoma pleomorfo está reconocida como un subtipo de adenoma pleomorfo según la clasificación de tumores de las glándulas salivales de la Organización Mundial de la Salud (OMS), 5ª edición. La controversia sobre la entidad se refiere a las características benignas de la enfermedad, incluso en lugares de metástasis. Presentamos un raro caso, en un varón de 19 años, de inflamación preauricular izquierda recurrente que se comunica como una metástasis de adenoma pleomorfo. El paciente presentó inflamación preauricular izquierda hace siete años, que se diagnosticó como adenoma pleomorfo, y se sometió a una resección completa del tumor, el cual presentó dos recidivas, dos y cinco años después de la cirugía. En la segunda recidiva, la resección a nivel II del cuello mostró múltiples depósitos encapsulados de adenoma pleomorfo de morfología similar en el tejido blando cervical, sin características de transformación de alto grado. (AU)

Seasonal variation of HbA1c levels in diabetic and non-diabetic patients.

Background: Hemoglobin A1c (HbA1c) serves as a pivotal marker for long-term glycemic control. The Diabetes Control and Complications Trial (DCCT) established its relevance, yet gaps exist in understanding potential seasonal variations in HbA1c levels among diabetic patients. The study highlights the need to explore potential seasonal variations in HbA1c levels and their impact on diabetic patients. Materials and methods: This is an observational study conducted in a tertiary care hospital from January to December 2019, the study analyzed HbA1c levels in 8138 patients. Blood samples were collected using Potassium EDTA-containing vials and processed with an automated analyzer. Seasonal variations were explored using time series analysis. Results: Mean HbA1c levels peaked during the monsoon (June to September) and were lowest in autumn (October to November). Subgroup analysis revealed differences in patients with HbA1c values below and above 6.5 %. Those with controlled blood sugar showed higher levels in winter (December to February) and monsoon (June to September), while patients with HbA1c values ≥ 6.5 % exhibited significantly lower levels in monsoon (June to September) and autumn (October to November) compared to summer (March to May). Conclusion: In contrast to global trends, Indian patients demonstrated distinct seasonal variations in HbA1c levels. The highest levels during the monsoon (June to September) may be linked to reduced outdoor activity and dietary changes. The study emphasizes the need for tailored diabetes management considering seasonal influences. Further extensive, longitudinal studies across diverse Indian regions are recommended to comprehensively grasp the impact of seasonal changes on diabetes outcomes.

Malignant Transformation of an Ovarian Mature Cystic Teratoma to a Malignant Melanoma.

Ovarian mature cystic teratomas comprise tissue derived from all three germ layers and constitute 10-20% of all ovarian neoplasms. Malignant transformation of mature cystic teratomas (MCT) is very rare with an incidence of 0.17-2%. The most frequently reported malignancies include squamous cell carcinoma and adenocarcinoma. Herein, we describe a case of a 56-year-old female who presented with abdominal pain and underwent total abdominal hysterectomy with bilateral oophorectomy and omentectomy for a ruptured dermoid cyst. Histological examination showed nests of pleomorphic cells with prominent nucleoli and melanin pigment in the background of a mature cystic teratoma. These cells showed immunoreactivity for Melan-A and HMB-45, thus confirming the diagnosis of malignant transformation of a mature cystic teratoma to a malignant melanoma.

Squamous Cell Carcinoma of the Middle Ear-A Common Tumor at an Uncommon Site.

Squamous cell carcinoma of the middle ear is a very rare tumor. Early detection is uncommon as the tumor usually manifests as persistent ear discharge and otalgia, often misdiagnosed as chronic suppurative otitis media. We present a rare case of squamous cell carcinoma of the middle ear which clinically presented as chronic suppurative otitis media. Therefore, clinicians should have a high index of suspicion for clinically refractive cases of otorrhea, otalgia, excess bleeding, and non-responsiveness to treatment. All polyps and granulation tissue in EAC and middle ear should be submitted for histopathological examination especially in cases refractory to treatment.

Evaluation of Histomorphological Changes in Breast Cancer Post-Neoadjuvant Chemotherapy.

Breast cancer, a leading cause of global female mortality, demands comprehensive diagnostic and therapeutic strategies. This study delves into the nuanced realm of post-neoadjuvant chemotherapy breast cancer specimens, emphasizing the imperative need for pathologists to discern stromal and nuclear alterations adeptly. The investigation, encompassing 100 female patients with a mean age of 47.5 years, elucidates the demographic and clinicopathological parameters. Predominantly presenting as palpable lumps (85%), invasive ductal carcinoma emerged as the predominant histological type (98%). The primary focus of the study revolves around the morphological changes post-neoadjuvant chemotherapy, with a meticulous qualitative analysis encompassing stromal elements (fibrosis, elastosis, calcification) and nuclear features (pyknosis, hyperchromasia). Notably, the response to chemotherapy, classified by the International Union against Cancer criteria, delineates a substantial pathological complete response (55%), partial response (35%), and limited non-response (10%). The therapeutic landscape includes a majority of cases undergoing extensive chemotherapy cycles, primarily featuring the cyclophosphamide, doxorubicin, and paclitaxel regimen. Remarkably, this investigation unveils fibrosis (63%) and elastosis/collagenization (51%) as prevalent stromal changes, while pyknosis (58%) and hyperchromasia (48%) dominate nuclear alterations. In conclusion, this retrospective study provides a comprehensive overview of post-neoadjuvant chemotherapy breast cancer specimens, shedding light on the intricate interplay of clinical parameters, treatment responses, and histopathological changes. The findings underscore the pivotal role of pathologists in accurately diagnosing and grading tumors in the evolving landscape of breast cancer management.

BCOR Positive Central Nervous System Neuroepithelial Tumor Masquerading as a Meningioma.

The central nervous system tumor with BCL-6 interacting corepressor internal tandem duplication (BCOR-ITD) is a molecularly defined entity with an internal tandem duplication in exon 15 of the BCOR gene. It is histologically characterized by a solid pattern with spindle-shaped cells and a dense capillary network. Very few cases of this rare entity have been reported till date. We present a case of BCOR-positive CNS tumor in a 3-year-old child who presented with scalp swelling. A differential diagnosis of CNS tumor with BCOR expression should be considered whenever high-grade tumors with histopathological features of glial or ependymal tumors do not express the classical glial markers.

Comparison of Intraoperative Imprint Cytology versus Frozen Section for Sentinel Lymph Node Evaluation in Breast Cancer. A study along with Systematic Review and Meta-analysis of literature.

BACKGROUND: Sentinel lymph node (SLN) is the first lymph node to drain the lymph from a particular region involved by cancer. The commonly performed intraoperative methods for SLN evaluation are touch imprint cytology (TIC) and frozen section (FS). The present study aimed to determine the sensitivity, specificity and accuracy of TIC and FS with histopathological diagnosis as gold standard. MATERIALS AND METHODS: The nodes were bissected along their long axis and wet surface was imprinted on to clean glass slides followed by toluidine blue and rapid Papanicolaou staining. Subsequently the lymph node slices were cut at three levels using the cryostat machine and stained with Hematoxylin and eosin stain. The cytological and FS findings were compared and the specificity, sensitivity, accuracy, positive predictive value (PPV) and negative predictive value (NPV) of TIC and FS was evaluated taking histopathological diagnosis as gold standard. In addition, pooled sensitivity, specificity, positive predictive value, negative predictive value and diagnostic accuracy for touch imprint cytology and frozen section were assessed for the studies included in the meta-analysis. RESULTS: The specificity, sensitivity, diagnostic accuracy, positive predictive value and negative predictive value of touch imprint cytology were 100%, 88.2%, 90%, 100% and 60% respectively. The specificity, sensitivity, diagnostic accuracy, PPV and NPV of frozen section were 100%, 94.1%, 95%, 100% and 75% respectively. The sensitivity of TIC and FS for detection of micrometastasis was 60% and 80% respectively. The pooled sensitivity and specificity for touch imprint cytology were 85.24% (95% CI, 83.46%-86.90%), and 98.99% (95% CI, 98.69%-99.23%) respectively. The pooled sensitivity and specificity for frozen section examination were 90.45% (95% CI, 85.15%-94.34%), and 100% (95% CI, 99.24%-100%) respectively. CONCLUSION: Even though the sensitivity of FS was better than imprint cytology in detection of micrometastasis, TIC is a rapid inexpensive technique which can be utilized in remote areas in absence of cryostat machine. The sensitivity of the two techniques with respect to detection of macrometastasis was comparable. This meta-analysis highlights the accuracy of the touch imprint cytology and frozen section examination in the intra-operative detection of malignancy in breast cancer.

Cytomorphological Insights into Embryonal Rhabdomyosarcoma: A Rare Case in the Middle Ear.

INTRODUCTION: Rhabdomyosarcoma, though rare in the middle ear, necessitates prompt recognition for optimal management. They are malignant mesenchymal neoplasms arising from the embryonic mesenchymal cells of striated skeletal muscles. CASE PRESENTATION: We present a case of a 5-year-old child with massive right mastoid swelling and bloody ear discharge. Cytological examination via fine needle aspiration biopsy revealed features suggestive of a malignant mesenchymal tumor, confirmed on imaging and subsequent histopathology as embryonal rhabdomyosarcoma (ERMS) FNCLCC grade 2. Characteristic cytological findings included spindle-shaped cells in a myxoid stroma with tigroid background, aiding in early diagnosis. Despite radical mastoidectomy and adjuvant chemotherapy, ERMS in the middle ear remains challenging due to its aggressive nature and potential complications. CONCLUSION: This case underscores the importance of cytological evaluation in identifying rare soft tissue tumors like ERMS, facilitating timely intervention and improved outcomes. Early recognition and multidisciplinary management are crucial in addressing the complexities of ERMS in uncommon sites like the middle ear.

Intraparotid plexiform neurofibroma: A rare diagnostic challenge.

Isolated intraparotid neurofibromas are exceptionally rare and often associated with neurofibromatosis type 1 (NF1). Diagnosing these tumors proves challenging because of the clinical resemblance to primary salivary gland masses. This case report details an 18-year-old with a painful, enlarging parotid mass, diagnosed through fine needle aspiration biopsy (FNAB) revealing myxoid stroma and spindle cells. Magnetic resonance imaging confirmed a plexiform neurofibroma involving the parotid gland and facial nerve. Histopathology validated the diagnosis, emphasizing the importance of cytological and radiological correlation. Notably, the absent NF1 association makes this case unique. Surgical excision with facial nerve reconstruction was performed, highlighting the complexity of managing such rare intraparotid neurofibromas. Awareness of this entity is crucial for accurate diagnosis and appropriate management.

Diagnostic accuracy of International System for Reporting Serous Fluid Cytopathology: A systematic review and meta-analysis in malignancy diagnosis.

This study conducts the first meta-analysis to assess the aggregated risk of malignancy associated with each category of the International System for Reporting Serous Fluid Cytopathology (ISRSFC) for reporting serous effusion cytology, while also evaluating diagnostic accuracy. PubMed/MEDLINE and Embase were systematically searched using the keywords "(pleural, peritoneal, and pericardial effusions) AND (serous effusion cytology) OR (International System for Reporting Serous Fluid Cytopathology)". Articles underwent risk of bias assessment using the QUADAS-2 tool. After excluding inadequate samples, a meta-analysis determined sensitivity and specificity for different cutoff points, including "atypical considered positive," "suspicious of malignancy considered positive," and "malignant considered positive." Summary receiver operating characteristic curves assessed diagnostic accuracy, and the diagnostic odds ratio was pooled. Sixteen retrospective cross-sectional studies, totaling 19,128 cases, were included. Sensitivity and specificity for the "atypical and higher risk categories" considered positive were 77% (95% confidence interval [CI], 68%-84%) and 95% (95% CI, 93%-97%) respectively. For the "suspicious for malignancy and higher risk categories" considered positive, sensitivity and specificity were 57% (95% CI, 49%-65%) and 100% (95% CI, 99%-100%) respectively. Sensitivity and specificity for the "malignant" category considered positive for malignancy were 70% (95% CI, 60%-77%) and 99% (95% CI, 98%-99%), respectively. The pooled area under the curve ranged from 85% to 89.5% for each cutoff. This meta-analysis underscores the ISRSFC's accuracy in reporting serous fluid cytology. It emphasizes the diagnostic importance of the "suspicious" and "malignant" categories in identifying malignancy, and the role of the "benign" category in ruling out malignancy.

Metastasizing pleomorphic adenoma of the parotid gland: A common tumour with a very unusual presentation.

Metastasizing pleomorphic adenoma is recognized as a subtype of pleomorphic adenoma in WHO classification 5th edition of salivary glands. The controversy pertaining to the entity is the benign features of the disease even at a metastatic site. We present a rare case of left recurrent pre-auricular swelling in a young male reported as metastasizing pleomorphic adenoma. A nineteen-year-old male presented with left preauricular swelling seven years ago which was diagnosed as pleomorphic adenoma and underwent complete excision of tumour. The tumour recurred twice - two and five years after the surgery. At the second recurrence, the level II neck dissection showed multiple encapsulated deposits of pleomorphic adenoma having similar morphology in the cervical soft tissue with no features of high-grade transformation.

Enteric duplication cysts in paediatric population along with literature review.

The clinical presentation of enteric duplication cysts is dependent on the location of the cyst with symptoms varying from nausea and vomiting to abdominal distension, pain and perforation. Four patients were identified who were diagnosed with enteric duplication cysts within the period from 2019 to 2023. Three of the patients presented with signs of intestinal obstruction-abdominal distension and pain, while one had an antenatally detected abdominal mass. There were three boys and one girl with ages ranging from 4 months to 14 years. Three cases of ileal and one case of caecal duplication cyst were reported. Most of the cases showed ileal/caecal mucosa while one case demonstrated ectopic gastric mucosa. The treatment of these cysts includes surgical excision. Although radiological investigations help in arriving at a provisional diagnosis, the final diagnosis can be confirmed only after histopathological examination. Early treatment prevents complications and results in a good prognosis for the patient.

Pleomorphic Lipoma of the Parotid Gland: A Potential Cytological Pitfall.

Pleomorphic lipoma is an uncommon benign adipocytic tumor that arises from the subcutis. It has no risk of recurrence, metastasis or malignant transformation. The cytological findings of pleomorphic lipoma are often overdiagnosed as suspicious of malignancy owing to the pleomorphic morphology of the floret giant cells. We present a rare case of pleomorphic lipoma of the parotid gland which was misdiagnosed as a malignant tumor on fine needle aspiration cytology. Histopathological examination and positive expression for CD34 helped to arrive at the final diagnosis. Awareness about this rare entity will prevent overdiagnosis as a malignant tumor and unnecessary radical resections for this benign tumor.

Synchronous Papillary and Follicular Carcinoma with Scalp and Nodal Metastasis: A case report with review of literature.

Collision tumor comprise of existence of two histologically distinct and separate neoplasms in any organ. Thyroid gland is an uncommon site for these tumors, with frequently involved organs being liver, adrenal and stomach. Even among the synchronous tumors of thyroid, papillary and medullary carcinoma are most commonly reported. The present case reports a rare presentation of a collision tumor comprising of papillary and follicular carcinoma with scalp metastasis from the follicular carcinoma and lymph nodal metastasis from the papillary component. It is essential for the clinician to be aware of such an entity so as to guide further treatment and management.

Enigmatic echoes: Exploring brainstem neurenteric cysts - A case series and literature review.

INTRODUCTION AND IMPORTANCE: Neurenteric cysts (NCs) are rare congenital anomalies within the central nervous system, originating from the endodermal layer due to inappropriate embryonic notochordal plate and endoderm separation. Despite constituting a minute fraction of CNS tumors, their diverse clinical presentations and brainstem occurrence pose diagnostic challenges. CASE PRESENTATION: This study presents a series of three brainstem NCs, detailing demographics, clinical presentations, radiological features, and operative findings. Patients aged 2-40 years exhibited varied symptoms including headaches, vomiting, cranial nerve deficits, and motor/sensory deficits. Literature review of 27 cases showed a mean age of 26.8 years, predominantly in females, with diverse cystic characteristics on MRI. Surgical intervention achieved mostly complete resection, with varying outcomes including recurrence and malignant transformation. CLINICAL DISCUSSION: This study sheds light on the rare entity of brainstem NCs, emphasizing their diagnostic complexity. NCs, though constituting a minute fraction of CNS tumors, present a diagnostic challenge due to their diverse clinical presentations and rarity in the brainstem. CONCLUSION: This study provides insights into brainstem NCs, emphasizing diagnostic complexity and the importance of MRI in accurate diagnosis and surgical intervention. Enhanced collaboration is needed to refine management strategies for these intriguing lesions.

Desmoplastic Melanoma of the Chest Wall: a Diagnostic Dilemma.

Desmoplastic melanoma is an extremely rare subtype of malignant melanoma comprising only 1% of all the cutaneous melanomas. Being amelanotic and owing to its histopathological features of spindle cells lying in a collagenized stroma, it is often misdiagnosed as a dermatofibroma or scar tissue. The present case study describes a case of desmoplastic melanoma of the chest wall where the final diagnosis could be arrived at only after an extensive immunohistochemical panel to exclude other spindle cell proliferations.

Epithelioid Hemangioma of the Nasal Cavity: a Diagnostic Challenge.

Epithelioid hemangioma also known as angio-lymphoid hyperplasia with eosinophilia is a rare benign vascular neoplasm of unknown etiology. It very rarely involves the nasal cavity. It always poses a diagnostic challenge for clinicians and is usually misdiagnosed as Kimura's, IgG4-related disease, or malignant vascular tumors. The present case report describes an extremely rare presentation of epithelioid hemangioma inside the left nasal cavity causing complete obstruction and nasal septal deviation towards the right side in a young male. Hematoxylin and eosin-stained sections depicted a lobular proliferation of small capillary-sized vessels lined by plump epithelioid endothelial cells surrounding central vessels and scattered around them. These cells had abundant eosinophilic to amphophilic cytoplasm and enlarged nuclei with fine chromatin and central nucleoli. On immunohistochemistry, CD34 and CD31 highlighted the vascular proliferation and epithelioid endothelial cells. Erythroblast transformation-specific (ETS)-related gene (ERG) showed strong nuclear positivity in neoplastic plump epithelioid endothelial cells. EH is a benign vascular proliferation, but a high chance of recurrence is seen if complete resection is not done. As a result, the treatment of choice is complete surgical excision with clear margins. The case highlights a non-conventional presentation of epithelioid hemangioma and the importance of histomorphological features in diagnosing this entity.

Germ Cell Tumor Presenting as a Mesenteric Cyst: a Case Report and Literature Review.

Mesenteric cysts, typically benign and asymptomatic, are incidental findings during abdominal investigations for nonspecific symptoms. Their origin is commonly in the mesentery of the small bowel, mesocolon, or retroperitoneum. This paper reports a rare case of a 22-year-old male with a mesenteric cyst presenting as a right lower abdominal mass. Ultrasonography revealed a heterogenous collection, leading to surgical excision. Histopathology unexpectedly revealed an extragonadal yolk sac tumor (YST) originating in the mesentery, a rarity often misdiagnosed as a cyst. YST, primarily found in gonads, is infrequently reported extragonadally. This study contributes to the limited literature on primary peritoneal YST, discussing clinicopathological parameters and presenting a detailed case. The pathogenesis of extragonadal germ cell tumors, including YST, remains debated, with migration and stagnation of germ cells during embryonic development proposed as a prevalent theory. Histopathological examination of extragonadal YST mirrors gonadal YST, featuring various patterns. Immunohistochemistry, crucial for diagnosis, reveals positive expression for SALL-4, glypican-3, PLAP, AFP, and panCK. SALL-4 emerges as the most sensitive marker for extragonadal YST. This case underscores the importance of accurate postoperative histopathology and immunohistochemistry in distinguishing mesenteric YST from cysts, as misdiagnosis can impact prognosis. The rarity of extragonadal YST emphasizes the need for comprehensive understanding and recognition in clinical practice. The study contributes valuable insights into diagnosis and management, shedding light on a challenging aspect of surgical pathology.

Intrapulmonary Ancient Schwannoma: a Rare Tumour.

Schwannomas are benign encapsulated neoplasms which arise from Schwann cells of the neural sheath. Ancient schwannoma is a rare variant of schwannoma which is often misdiagnosed as a malignant neoplasm owing to degenerative changes. They are known to show degenerative nuclear atypia, cystic degeneration, hyalinization, myxoid change and haemorrhage. We present a rare case of an intrapulmonary ancient schwannoma in a 34-year-old female patient.