A case series of dermatopathological features in different types of morphea and their clinical correlates
The dermatopathological features in morphea (localized scleroderma) and their clinicopathologic correlations are not well described in the literature. To describe dermatopathological changes of different types of morphea and to investigate the association between clinical and histopathological features. A total of 18 cases of morphea who attended our tertiary care center in the last four years were evaluated. We noted clinical characteristics of all patients and dermatopathological changes like the pattern of sclerosis, degree of inflammation, cell types and all epidermal-dermal, and appendageal changes. Clinicopathological correlation was performed to interpret the clinical significance of dermatopathological changes in various types of morphea. Morphea was most commonly noted in the third decade and females. A circumscribed plaque was the most common clinical presentation. Full-thickness pattern of sclerosis was significantly associated with various clinical outcomes. Basal pigmentation and a reduced number of appendages were noted in more than 80% of patients. All patients had various grades of inflammation. Severe and moderate-grade inflammation with eosinophils and plasma cells was associated with pruritus and/or pain. The limitations are small sample size and single-centered case series. The dermatopathological examination of morphea may help in better monitoring and treatment of patients, including patterns of sclerosis and grades of inflammation, and cell types in skin pathology reports will aid in proper and better clinical management.
Correlation of P53 expression and epithelial-mesenchymal transition in non-small cell lung cancer
Investigation of a potential prognostic marker expressed in non-small cell lung cancer (NSCLC) can help patients benefit from new target therapeuticmodalities.
Unicuspid unicommissural aortic valves: A surgical pathology analysis
The unicuspid unicommisural aortic valve is an uncommon congenital malformation that often manifests as stenosis with or without regurgitation in adults in their third to fifth decades of life. This report characterizes the morphological features of surgically excised unicuspid valves in adults with clinical correlation. Among the surgically excised aortic valves over a period of 10 years, the clinical data and morphological features of unicuspid aortic valves were analyzed. The patients were grouped by the type of valvular function. Pathological features noted were the shape of the orifice, the status of the commissure and raphe, presence of fibrous thickening, calcification, and other complications. Twenty-three UAVs, excised over a 10-year period, represented 4.16% of the excised diseased aortic valves. There was a male preponderance with a mean age of 47.7 years. Majority of the patients (22 cases) had moderate to severe stenosis with varying degrees of regurgitation, and the valvular disease had been clinically attributed to rheumatic heart disease, bicuspid aortic valve, or senile degenerative changes. Most of the valves (18) had been cut at their commissural regions, and 2 rudimentary commissures or raphes were seen in 21 valves. Cuspal fibrosis/calcification was often associated with complications like ulceration, hemorrhage, and bland vegetations. Aneurysm of the ascending aorta had been present in 1 patient. The unicuspid unicommisural aortic valve while rare is usually clinically classified with the more common, congenitally bicuspid aortic valve. Clinical or imaging diagnosis can be challenging since calcification may obscure the morphology creating difficulties in distinguishing such valves from other congenital or acquired valvular pathologies, especially in older patients. Often it is only the gross examination that leads to the differentiation as was our observation.
ALK-positive large B-cell lymphoma: A study of six cases from an oncopathology center in North India
ALK-positive large B-cell lymphoma (ALK+ LBCL) is a rare neoplasm with an aggressive course and poor therapeutic response to the standard R-CHOP regimen. Owing to its negativity for usual B- and T-cell markers and immunopositivity for epithelial markers, it can be easily misdiagnosed if it is not contemplated. To study the clinicopathological parameters of cases of ALK+ LBCL diagnosed at our institution. A retrospective observational study of ALK+ LBCL was conducted at a tertiary cancer center of North India with cases diagnosed over a period of 3 years. Six cases of ALK+ LBCL were identified. The clinical findings at presentation included mean age of 38.8 years, male-to-female ratio of 5:1, extranodal presentation (1/6 cases), concurrent extranodal and nodal involvement (3/6), nodal presentation (2/6), high serum LDH (5/5), and bone marrow involvement (1/5). Histomorphology of diffuse (100%), alveolar/nested (16.6%), and sinusoidal pattern (1 case upon relapse) and immunoblastic and plasmablastic morphology (100%) and immunopositivity in all cases for ALK-1 protein (100%), CD138 (100%), MUM1 (100%), LCA (100%) along with negativity for EBER-ISH/EBV-LMP1 immunohistochemistry clinched the diagnosis. Fluorescence in situ hybridization analysis for ALK gene rearrangement was detected in 4/4 cases. Four patients received chemotherapy demonstrating relapse in 2 cases: residual disease and no response in one case each, along with death in 2 cases. A high degree of diagnostic suspicion is required for accurate recognition of ALK+ LBCL. Awareness of its histology, immunohistochemistry, and cytogenetics is pivotal for precise identification of this rare entity.
Eosinophilic dermatitis in a patient with chronic lymphocytic leukemia
Hematological malignancies are known to have cutaneous manifestations, either in the form of direct infiltration of skin by malignant cells or as a result of paraneoplastic syndrome. Many hematological malignancies, including chronic lymphocytic leukemia (CLL), are known to cause malignancy-induced Eosinophilic Dermatoses. We present a case of an elderly woman who presented with multiple pruritic patches. On clinical examination, the patient had multiple enlarged lymph nodes in the cervical and inguinal regions. The total leucocyte count was elevated and peripheral blood examination showed atypical lymphocytes. Flow cytometry was suggestive of CLL. The skin biopsy was suggestive of Eosinophilic Dermatoses in a case of chronic lymphocytic leukemia. We should be aware of this entity as they mimic insect bites, urticaria, and other skin conditions both histologically and clinically and to avoid a diagnostic pitfall.
Extrameduallary hematopoesis of the endometrium in a successfully treated case with acute myeloid leukemia
Intravascular fasciitis arising in an arteriovenous malformation: A rare vascular pathology
Correlation between Ki-67 labeling index and mitotic index in Head and neck squamous cell carcinoma
Proliferative activity of any tissue or neoplasm can be determined by its growth rate by mitotic count or by using antibodies directed against specific antigens like Ki-67. The usefulness of Ki-67 in head and neck cancers has been debated for the past 20 years; however, no study has definitively resolved this controversy.
Potential liquid biopsy markers of exosomal microRNAs in renal interstitial fibrosis blood and urine
To explore more and better liquid biopsy markers of exosomal microRNAs (exo-miRNAs) in renal interstitial fibrosis (RIF) and to preliminary investigate the biological functions and signaling pathways involved in these markers.
A rare case of PDGFRA-positive chronic eosinophilic leukemia
Chronic eosinophilic leukemia (CEL) is a clonal proliferation of eosinophilic precursors resulting in a persistently elevated number of eosinophils in blood, bone marrow, and peripheral tissues. The vaguely overlapping clinicopathological picture of CEL with idiopathic hypereosinophilic syndrome (IHES) often adds to the diagnostic dilemma. Here, we report a rare case of 49-year-old male who presented with multiorgan damage. Peripheral blood smear revealed predominantly eosinophils with dysplastic changes, shift to left in eosinophilic series, and 2% blasts. The bone marrow showed 5% blasts and many eosinophils, precursors of eosinophils, and myeloid and megakaryocytic proliferation. Till date, CEL is a very rare entity. Its presentation with cardiac and neurological manifestations is still rare.
The BCOR -rearranged sarcoma involving the lung: Diagnosis with clinical outcome and literature review
BCOR- rearranged sarcomas (BRS) constitute relatively newly described sarcomas, which, within the musculoskeletal sites, usually occur in the bones, followed by soft tissues. Primary BRS involving the visceral organs is very rare, and only a single case is reported in the lung. These tumors share overlapping morphological and immunohistochemical (IHC) features with other neoplasms, such as synovial sarcoma, Ewing sarcoma, as well as carcinosarcoma, the latter especially when occurring in the visceral organs. BCOR immunostaining is useful in triaging a tumor for molecular diagnosis, which constitutes the "essential" diagnostic criterion for these tumors. To report an extremely rare case of a BRS, confirmed by BCOR -rearrangement by fluorescence in situ hybridization (FISH), primarily occurring in the lung, emphasizing the diagnostic approach and management, along with review of literature. An18-year-old boy presented with complaints of left-sided chest pain, along with cough, fever, loss of appetite, and weight. On radio imaging, there was a complete collapse of the left lower lobe of lung with moderate pleural effusion. The biopsy showed a biphasic tumor comprising primitive round cells admixed with spindle cells. Immunohistochemically, the tumor cells were positive for BCOR, TLE1, and p53. FISH showed BCOR gene rearrangement. A diagnosis of primary BRS of lung was offered. The patient had a favorable response to the chemotherapy regime. BRS is an ultra-rare tumor, which rarely involves visceral organs. The lung is an exceptionally rare site, with only single reported case previously. An exact confirmation by molecular testing has treatment-associated implications. A review of similar reported cases is presented herewith.
Leimyoadenomatoid tumor of epididymis: An uncommon diagnosis with review of literature
Granulomatous panuveitis following prolonged silicone oil tamponade - A Clinicopathological study
An enucleated specimen of a silicone oil-filled globe, showing migration of oil globules into the intraretinal, choroidal, and ciliary body areas, surrounded by multinucleated giant cells suggestive of panuveitis on histopathological evaluation, was reported.
Correlation of tumor budding with a novel and other established prognostic parameters in patients with invasive breast carcinoma
Breast cancer is the most common malignancy among women. Established prognostic markers in breast carcinomas include tumor size, histologic grade, nodal status, lymphovascular invasion, perineural invasion, hormone receptor status, HER-2 status, and age.
Unveiling bone marrow cryptococcosis in an immunocompetent child: A rare case presentation
Cryptococcal infection is less common in immunocompetent hosts and almost always occurs in the setting of HIV disease. Disseminated Cryptococcosis in a child is a fatal condition and often requires a prompt diagnosis and appropriate antifungal therapy to improve patient outcomes. Here, we present a case of bone marrow Cryptococcal infection in a 4-year-old female child. She presented clinically with fever, abdominal pain, and hepatosplenomegaly for a duration of two and a half months. A bone marrow aspiration and trephine biopsy was performed with a suspicion of haemato-lymphoid malignancy. However, bone marrow aspirate smears revealed bone marrow Cryptococcosis which was later confirmed by special stains. She was treated with liposomal amphotericin B (3 mg/kg) and flucytosine (100 mg/kg/day). A comprehensive approach including clinical symptoms, examination findings, imaging studies, and laboratory tests is crucial in establishing an early diagnosis of Cryptococcosis, particularly with atypical presentations.
Application of electrospray triple quadrupole mass spectrometry in assessing thalassemia in a population
Thalassemia is widely prevalent in Asian countries and the Middle East region of the world. While the prevalence of α thal is around 5-20% in the population, the incidence of β thal is around 3-4%. The available data on thalassemia in Indians is based on chromatographic or electrophoretic techniques. The present study demonstrates the utility of mass spectrometry in detecting thalassemia in a small, healthy population from Tiptur, Karnataka.
Rupture of liver myelolipoma in a patient who underwent mitral valve replacement 16 years ago: A case report
Myelolipoma is a rarely encountered benign tumour of the liver. Patients may be asymptomatic or may present with clinical signs such as silent hepatomegaly, pain in the right upper quadrant of the abdomen, and anorexia. The patient, who had a history of mitral valve replacement, had been on warfarin for 16 years. The pain, which began in the right upper quadrant of the abdomen two days ago, has since spread to the entire abdomen. The patient, who was in hypovolemic shock, underwent an exploratory laparotomy with a preliminary diagnosis of bleeding. During the procedure, a ruptured mass in the liver was incidentally discovered. Histopathological and immunohistochemical examinations revealed that the mass consisted of fat and bone marrow cells, leading to a definitive diagnosis of myelolipoma. To the best of our knowledge, this is the first reported case of spontaneous rupture of a liver myelolipoma in the literature.
The NF1 gene mutations and co-mutations in lung adenocarcinomas with brain metastasis
The co-occurrence of lung adenocarcinoma and brain metastasis remains a significant cause of morbidity and mortality despite advancements in cancer treatment. The activity of neurofibromin, the product of Neurofibromatosis Type 1 gene (NF1), is crucial in regulating the RAS/MAPK pathway. The NF1 somatic mutations are significant in conditions such as melanoma, lung cancer, breast cancer, neuroblastoma, and central nervous system tumors.
Clinico-pathological association of BCL2 in invasive breast carcinoma: A study from tertiary care health centre in Northern India
B-cell lymphoma 2 (Bcl-2) is an antiapoptotic protein and an important clinical breast cancer prognostic marker. The aim of this study was to evaluate the relationship between the BCL2 expression and clinico-pathological parameters in breast cancer.
EBV-triggered secondary macrophage activation syndrome in the backdrop of lupus in an adult
Macrophage activating syndrome (MAS) is a potentially life-threatening condition falling under the spectrum of secondary hemophagocytic lymphohistiocytosis, in the backdrop of rheumatological conditions. In this case of a middle-aged man, we see how an initial Epstein Barr virus infection triggered a chain of events, which after serial monitoring of labs was promptly diagnosed as MAS and treated appropriately, resulting in overall clinical improvement of the patient.
A rare case of concurrent JAK2V617F-positive essential thrombocythemia, multiple myeloma, and colorectal adenocarcinoma
Multiple myeloma (MM), essential thrombocythemia (ET), and colorectal adenocarcinoma (CA) are three distinct diseases. The co-occurrence of MM, ET, and CA in a single patient is exceedingly rare. Our study presents a remarkable case involving a 75-year-old patient who was simultaneously diagnosed with these three diseases. The JAK2V617F mutation was detected in the bone marrow with a variant allele frequency (VAF) of 13.38%, whereas the isolated CD138-positive plasma cells exhibited a significantly lower VAF of 0.38%. This notable difference implies the potential for separate origins of MM and ET. Additionally, the patient responded well to a bortezomib-based treatment regimen, despite the absence of specific therapy for ET. We believe that our findings add new understanding to these rare diseases and encourage further research in this area.