Background: Mesenchymal neoplasms exhibiting myxoid characteristics, including inflammatory myofibroblastic tumours (IMTs) and myxofibrosarcomas, present complex diagnostic and surgical challenges. These difficulties are particularly pronounced when lesions recur within anatomically complex sites, such as the cervicothoracic junction. Case Presentation: This report details the clinical management of an older woman presenting with a painful, recurrent, large left supraclavicular mass, following two previous surgical resections. Contrast-enhanced computed tomography (CECT) demonstrated a large soft-tissue lesion closely abutting the carotid sheath and pectoralis musculature. Although an initial core needle biopsy suggested a solitary fibrous tumour (SFT) based on patchy CD34 reactivity, the lesion’s extensive size and impending epidermal ulceration required wide local excision alongside reconstruction via a pectoralis major myocutaneous (PMMC) flap. Subsequent postoperative complications, specifically a haematoma and partial flap loss, were effectively resolved using negative pressure wound therapy (NPWT). Definitive histopathological and immunohistochemical (IHC) analysis of the resected specimen revealed a spindle cell proliferation set within a myxoid matrix and accompanied by a marked inflammatory infiltrate. Positive immunoreactivity for vimentin and CD68, coupled with CD34 negativity, prompted a revised diagnosis of a myxoid mesenchymal neoplasm, favouring an IMT or myxofibrosarcoma. Conclusion: This case emphasises the diagnostic constraints of core needle biopsies in heterogeneous soft tissue masses and highlights the intricate surgical and reconstructive strategies needed for massive tumours located at the root of the neck.
B-cell acute lymphoblastic leukaemia (B-ALL) is a haematological malignancy characterised by the clonal proliferation of B-lymphoid precursors. Cytogenetic and molecular alterations are central to B-ALL classification and diagnosis according to the 2024 World Health Organization (WHO) guidelines. Although recurrent abnormalities are well characterised, rare chromosomal alterations may provide insights into leukaemogenesis and prognosis. Here, we report the case of a 33-year-old woman diagnosed with B-ALL. Bone marrow flow cytometry identified 82% blasts expressing CD19, CD79a, CD22, and CD10, with partial cytoplasmic IgM and nuclear TdT expression and absence of CD34, consistent with B-precursor ALL. BCR::ABL1 p190 and p210 transcripts were negative by nested RT-PCR. Cerebrospinal fluid (CSF) flow cytometry detected 4.9% immature B cells with a phenotype similar to bone marrow blasts, confirming central nervous system (CNS) involvement at diagnosis. Conventional cytogenetics revealed 46,XX,t(6;19)(q21;p13). The patient received Hyper-CVAD chemotherapy and intrathecal therapy, achieving complete bone marrow remission with undetectable measurable residual disease and a normal karyotype. Subsequent CSF assessments were negative for leukaemic involvement. Three isolated CNS relapses occurred at 7, 11, and 17 months after diagnosis, with 82.7%, 95.9%, and 5.1% leukaemic cells in the CSF, respectively, despite treatment with intrathecal chemotherapy and CNS radiotherapy. The patient died 20 months after diagnosis. This case expands knowledge of rare cytogenetic abnormalities in B-ALL and highlights the need for further studies to clarify the biological and potential prognostic implications of t(6;19)(q21;p13).
Angina bullosa haemorrhagica (ABH) is an uncommon, benign oral mucosal disorder characterised by the acute and spontaneous development of blood-filled bullae involving the oral or oropharyngeal mucosa, in the absence of an identifiable systemic, haematological, or mucocutaneous condition. The present case report aims to describe the clinical presentation of ABH, with particular emphasis on its diagnostic evaluation, differential diagnosis, and management. Careful clinical assessment can facilitate an accurate diagnosis while avoiding unnecessary invasive interventions in uncomplicated cases. This case report describes a 72-year-old male who presented with a blood-filled blister on the left buccal mucosa of 2–3 days’ duration. The lesion developed shortly after food consumption, and the patient reported previous similar episodes that had resolved spontaneously without specific treatment. Clinical examination revealed a solitary, well-circumscribed, bean-shaped haemorrhagic bulla measuring approximately 20 mm in diameter near the left retromolar region. The lesion was dark red to violaceous, soft, and non-tender, with an intact, smooth surface and clinically normal surrounding mucosa. Diascopy demonstrated no blanching, consistent with the presence of extravasated blood. A biopsy was initially planned; however, the lesion resolved spontaneously before the scheduled procedure, leaving no residual lesion. Based on the clinical presentation, recurrent history, possible triggering event, absence of similar extraoral lesions, and spontaneous resolution, a clinical diagnosis of angina bullosa haemorrhagica was established.
Scrotal pyocele is an uncommon urological condition characterised by a purulent collection within the scrotal sac and may be associated with inflammatory conditions of the epididymis or testis. This case report describes a 69-year-old male who presented with progressive scrotal swelling, scrotal pain, and fever. The patient had a history of hypertension, coronary artery disease, hypothyroidism, and bronchial asthma. Haematological investigations showed an elevated white blood cell count of 23,200/cu. mm and platelet count of 575,000/cu. mm, while urine examination showed a turbid appearance with increased pus/WBC cells, RBCs, and epithelial cells. Scrotal ultrasonography demonstrated normal testicular size and echotexture without focal lesions, but revealed a gross left scrotal fluid collection with internal echoes. The encysted collection measured approximately 6.0 × 6.5 cm and compressed the left testis; minimal free fluid was also present in the right scrotal sac. The therapeutic approach included empirical antimicrobial therapy, analgesic and supportive treatment, while drainage and surgical procedures were discussed as management options. The case highlights the diagnostic value of ultrasonography in identifying an encysted purulent scrotal collection and assessing testicular compression. Timely recognition and appropriate multidisciplinary management are important because scrotal pyocele may be associated with severe infectious complications and possible testicular compromise.
Introduction: Leukaemia is the most common childhood malignancy worldwide, and acute myeloid leukaemia (AML) is the second most common type and carries a poorer prognosis than acute lymphoblastic leukaemia. Patients with AML may develop extramedullary lesions in the meninges, testicles, and orbits. We report the case of a child who presented with unilateral proptosis. Case Presentation: This case involved a 7-year-old girl, previously fit and well, whose parents initially noticed proptosis of her right eye. The proptosis gradually worsened, and she was brought to the Emergency Department. A CT scan of the head showed a right intra-orbital mass. Blood tests showed neutropenia, with blasts visible on the peripheral blood film. Flow cytometry confirmed a diagnosis of AML. She was transferred to the care of the Paediatric Oncology team and managed according to current guidelines. She has completed treatment and is currently in remission. Discussion: The differential diagnosis of unilateral proptosis in children is broad and includes pre-septal or orbital cellulitis, orbital haemangiomas, retinoblastoma, rhabdomyosarcoma, neuroblastoma, lymphangiomas, or thyroid eye disease. Orbital involvement can occur in childhood AML, and the presence of specific ocular lesions is associated with a higher risk of bone marrow relapse and central nervous system involvement, as well as reduced overall survival. Previous studies have shown that proptosis can indeed precede the manifestation of systemic symptoms of leukaemia. Conclusion: Unexplained proptosis in a child is a ‘red flag’ symptom, and it is important to maintain a high index of suspicion for leukaemia in these patients. Avoiding delays in diagnosis and treatment can improve overall outcomes for patients.
