Publications by authors named "Moonim Mufaddal"

Background: Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours. Pathogenic variants have been identified in more than 15 susceptibility genes; associated tumours are grouped into three Clusters, reinforced by their transcriptional profiles. Cluster 1A PPGLs have pathogenic variants affecting enzymes of the tricarboxylic acid cycle, including succinate dehydrogenase.

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Here we describe three cases of sarcoidosis which were diagnosed following COVID infection. Treating clinicians should consider post-COVID-19 sarcoidosis in their differential, as it represents a potentially treatable cause of persistent symptomatology.

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  • Systemic mastocytosis is a rare disease that varies in severity, with most patients experiencing mild symptoms, but some may develop aggressive forms.
  • Complications can arise from an increase in mast cells or the presence of other blood disorders, leading to worse outcomes for those affected.
  • Recent advancements in diagnosis and treatment have improved prognosis for patients with advanced systemic mastocytosis, addressing key questions about classification and management.
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Primary lacrimal sac melanoma (PLSM) is exceedingly rare and associated with high morbidity and mortality. Unfortunately, PLSM often presents insidiously resulting in delayed detection and poor prognosis. A 69-year-old Black man was suspected of having a lacrimal sac tumour following presentation with a left sided watery eye, bloody tears, and a lacrimal mass.

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  • A novel case report details a man with multiple paragangliomas and pathogenic variants in both NF1 and SDHD genes, diagnosed with familial NF1 disease since childhood.
  • During evaluation for neurological symptoms, head and neck tumors were discovered, leading to genetic counselling and subsequent surgery.
  • Genetic sequencing revealed specific variants in NF1 and SDHD, emphasizing the significance of genetic testing in understanding the development of paragangliomas and their connections to cancer susceptibility genes.
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Primary extramedullary plasmacytoma is rare monoclonal proliferation of plasma cells, which arise in various nonosseous anatomic locations without detectable underlying systemic disease. Historically, cutaneous infiltrates rich in mature neoplastic plasma cells have fallen into one of the following categories, plasmacytoma, lymphoplasmacytic lymphoma, and marginal zone lymphoma, which included immunocytoma. Since 2005, each of these was subsumed under the marginal zone lymphoma umbrella, largely on the basis of acknowledged diagnostic difficulties in some of these cases.

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Allogeneic haematopoietic cell transplantation (allo-HCT) remains the only curative approach in myelofibrosis (MF). Despite advances over recent decades, relapse and non-relapse mortality rates remain significant. Relapse rates vary between 15 and 25% across retrospective studies and management strategies vary widely, ranging from palliation to adoptive immunotherapy and, in some cases, a second allo-HCT.

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  • Myeloproliferative neoplasm-unclassifiable (MPN-U) is a type of blood cancer that shows specific features resembling other blood disorders but does not fully fit those diagnoses.
  • A study involving 1512 patients found that 82 had MPN-U, with common symptoms including high lactate dehydrogenase levels, elevated platelet counts, and abnormal megakaryocytes in biopsies.
  • Thrombosis occurred in 21% of cases, and patients with lower platelet counts or high white blood cell counts at the start had reduced event-free survival, showing a need for developing prognostic scoring systems for MPN-U.
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Thyroid cancer therapy is increasingly tailored to patients' risk of recurrence and death, placing renewed importance on pathologic parameters. The International Collaboration on Cancer Reporting (ICCR), an organization promoting evidence-based, internationally agreed-upon standardized pathology data sets, is the ideal conduit for the development of a pathology reporting protocol aimed at improving the care of patients with thyroid carcinomas. An international expert panel reviewed each element of thyroid pathology reporting.

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  • Lymphoplasmacytic lymphoma (LPL) is a rare type of mature B cell lymphoma that typically affects the bone marrow, spleen, and lymph nodes, but can also present as a primary tumor in the stomach, as seen in a case study of a 47-year-old man.
  • The patient displayed reflux symptoms, and investigations revealed a gastroesophageal junction polyp and ulcer, with biopsies indicating an abnormal accumulation of plasma cells and lymphocytes, leading to the diagnosis of primary isolated gastric LPL.
  • This case highlights the uncommon nature of gastric LPL presentations, emphasizing the importance for medical professionals to recognize this rare condition, which may occur without the typical associated paraprotein in serum or significant bone marrow involvement.
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We describe the histological, histochemical, and immunohistochemical features of an unusual neoplasm of the parathyroid gland showing the histologic criteria of a mixed neuroendocrine-nonneuroendocrine neoplasm (MiNEN). To the best of our knowledge, this is the first report of such a tumor. A 43-year old male presented with acute and severe abdominal pain due to acute pancreatitis.

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Mastocytosis is a rare disease with varied presentation, myriad symptomatology and variable prognosis. Most patients present with cutaneous disease and mediator-related symptomatology with a small subset having systemic disease (systemic mastocytosis, SM). A subset of the latter develops synchronous or metachronous haematologic neoplasms (SM-AHN), most commonly chronic myelomonocytic leukaemia (CMML).

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  • Lymphomas in the adrenal gland are uncommon, with only a few documented cases of EBV-positive diffuse large B-cell lymphomas (DLBCL) occurring in adrenal pseudocysts.
  • The report highlights a case of a 58-year-old man who developed an incidental EBV-positive DLBCL in an adrenal pseudocyst, having a prior history of lymphoplasmacytic lymphoma (LPL).
  • The findings suggest that the DLBCL may be a transformation of the existing LPL rather than a new, separate lymphoma, due to their similar characteristics and presence within the same cyst.
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Incidental thyroid FDG uptake is not rarely encountered on PET studies. In this case, we present an incidental thyroid focus of F-FDG uptake identified in a patient with splenic marginal zone lymphoma during the baseline and the response assessment PET/CT study that proved to be medullary thyroid carcinoma on subsequent histological examination.

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Lymphangiomas are neoplastic lesions derived from lymphatic endothelium. They are largely encountered in the head and neck region. We describe a case of an adrenal lymphangioma, an extremely uncommon cystic lesion of the adrenal and discuss the differential diagnosis, clinical, imaging, histopathologic and immunophenotypic features of this lesion.

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Rationale: The current management of lymphoma requires accurate diagnosis and subtyping of de novo lymphoma and of relapsed or refractory lymphoma in known cases. The role of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in the clinical management of lymphomas is unclear.

Objectives: To investigate the use of EBUS-TBNA in the diagnosis of de novo and relapsed mediastinal lymphomas.

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Fluorescence in situ hybridisation (FISH) analysis is now widely employed in the diagnosis and risk stratification of a wide range of malignant diseases. While this technique is used successfully with formalin-fixed paraffin-embedded (FFPE) sections from numerous tissue types, FISH analysis of FFPE tissue sections from trephine biopsy specimens has been less widely reported, possibly due to technical limitations relating to the decalcification protocols employed. During the last 4 years FISH analysis has been carried out successfully in 42 out of 55 (76%) consecutive trephine biopsy specimens received as part of the standard diagnostic service at our institution.

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