A comprehensive characterisation of phaeochromocytoma and paraganglioma tumours through histone protein profiling, DNA methylation and transcriptomic analysis genome wide.

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.

Sarcoidosis following COVID infection: A case series.

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.

Update on diagnostic approaches and therapeutic strategies in systemic mastocytosis.

Systemic mastocytosis is a rare disease which is being better recognized and managed. While the vast majority of patients have indolent disease with variable symptom burden, a small proportion evolve or present with aggressive disease. This may be due to increases in mast cell burden (leukemic, associated with tumour masses) or more commonly due to the presence of an additional hematologic neoplasm (SM-AHN).

Primary lacrimal sac melanoma: a case report describing the novel use of fine needle aspiration cytology (FNAC) for diagnosis, together with literature review and immunotherapy treatment update.

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.

A Problem of Classification: 2 Cases of Epstein-Barr Virus + Primary Cutaneous Plasmacytoma Arising in Immunocompetent Elderly Patients.

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.

Allogeneic haematopoietic cell transplantation for myelofibrosis: proposed definitions and management strategies for graft failure, poor graft function and relapse: best practice recommendations of the EBMT Chronic Malignancies Working Party.

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.

Data set for reporting carcinoma of the thyroid: recommendations from the International Collaboration on Cancer Reporting.

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.

Primary Isolated Lymphoplasmacytic Lymphoma (LPL) of the Stomach: A Case Report.

BACKGROUND Lymphoplasmacytic lymphoma (LPL) is a mature B cell lymphoma that mostly involves the bone marrow, spleen, and lymph nodes. Involvement of extramedullary sites is very rare and has not been reported as the primary site before. CASE REPORT A 47-year-old man presented with reflux symptoms.

Does Mixed Neuroendocrine-Nonneuroendocrine Neoplasm (MiNEN) of the Parathyroid Gland Exist? First Description of a Possible Case.

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.

The clinical and pathological panoply of systemic mastocytosis.

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).

Synchronous Microscopic Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Adrenal and Lymphoplasmacytic Lymphoma: De Novo Disease or Transformation?

Lymphomas arising in the adrenal are rare, and to our knowledge, 2 cases of Epstein-Barr virus (EBV)-positive diffuse large B-cell lymphomas (DLBCL) in an adrenal pseudocyst have been reported. We report an incidental EBV-positive DLBCL arising in an adrenal pseudocyst in a 58-year-old man with a 7-year history of lymphoplasmacytic lymphoma (LPL). The DLBCL was present in the fibrinous exudate, while the LPL resided in the cyst wall.

18F-FDG PET Detection of a Medullary Thyroid Carcinoma in a Patient With SMZL.

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.

Adrenal lymphangioma presenting as a non-functional adrenal cyst.

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.

Diagnosis and subtyping of de novo and relapsed mediastinal lymphomas by endobronchial ultrasound needle aspiration.

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.

Fluorescence in situ hybridisation analysis of bone marrow trephine biopsy specimens; an additional tool in the diagnostic armoury.

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.