Mantle Cell Lymphoma Relapsing as Disease of Skin, Orbit and CNS: An Extremely Rare Presentation and a Review of Literature.

Mantle cell lymphoma (MCL) is a form of non-Hodgkin's lymphoma originating from mature B cells. The hallmark gene translocation (11:14) results in overexpression of cyclin D1. Affected extranodal sites include bone marrow and gastrointestinal tract, but skin, orbit or CNS are rarely involved. Twenty-four cases have reported involvement of skin by MCL, while orbital MCL is equally rare. Our case is the first to report relapsed MCL with involvement of the skin and orbit simultaneously without disease in the lymphatic system or the bone marrow. A 53-year-old female with stage IV MCL initially presented with pancytopenia, adenopathy and splenomegaly. She achieved complete remission after six cycles of rituximab and bendamustine. Within 4 weeks of treatment, she developed diplopia and a rash of the left breast. Skin biopsy showed lymphoma infiltrates with B-cell markers for MCL. MRI of the orbits and brain suggested orbital lymphoma. CSF cytology further confirmed MCL cells. At time of relapse, she continued to be in hematologic remission. She initiated intrathecal cytarabine and methotrexate along with ibrutinib. R-CHOP was then added to the regimen. Within 2 weeks of starting treatment, her skin disease resolved and she had improvement in vision. MCL commonly presents as a disseminated disease, resulting in high mortality. Involvement of the skin or orbit has been sparingly reported and always suggests aggressive disease. It thus poses a challenge to diagnose and treat the condition as evidenced by resolution of adenopathy and bone marrow disease. Due to the overall poor prognosis of MCL and its unique presentations, as demonstrated by our case, early detection and prompt treatment are crucial to survival.

Correction: Mantle Cell Lymphoma Relapsing as Disease of Skin, Orbit and CNS: An Extremely Rare Presentation and a Review of Literature.

[This corrects the article DOI: 10.14740/jh363w.].

Diagnostic yield from colon biopsies in patients with inflammatory bowel disease and suspected cytomegalovirus infection: is it worth it?

BACKGROUND: Patients with inflammatory bowel disease (IBD) are often immunosuppressed and are at risk for reactivation of latent cytomegalovirus (CMV) infection. We examined the diagnostic yield from colon biopsies in IBD patients with suspected CMV infection. METHODS: Patients above 18 years of age who underwent testing for CMV on colon biopsies between January 1st, 2012, and December 31st, 2015, were identified from a pathology data base. A positive CMV result was included only if testing included both hematoxylin/eosin staining and immunohistochemistry from two or more biopsy samples. RESULTS: One hundred twenty-five patients met the inclusion criteria. Of these, 99 had a diagnosis of IBD: 30 with Crohn's disease, 63 with ulcerative colitis, and 6 with indeterminate colitis. As regards treatment, 21.2% of the patients had biologic therapy alone, 13.1% received immunomodulators, and 11.1% were treated with combined biologic and immunomodulator therapy within 3 months of the colon biopsy. In addition, 32.3% of the patients were on steroids. Of the 99 IBD patients, only 1 had biopsy-proven CMV colitis. CONCLUSION: The yield from colon biopsies with hematoxylin/eosin staining and immunohistochemistry to test for CMV in IBD flare is very low. Further multicenter studies with large numbers of patients are needed to compare all testing modalities in the same cohort of patients. This may help identify which subgroup of IBD patients are likely to benefit from specific modalities of CMV testing, with potential cost-saving implications.

Paraneoplastic pemphigus as a presentation of acute myeloid leukemia: Early diagnosis and remission.

Skin lesions are frequently encountered in clinical practice which can be a presentation of systemic diseases not excluding an occult malignancy. Commonly reported paraneoplastic dermatologic manifestations include acanthosis nigricans, dermatomyositis, erythroderma, hypertrophic osteoarthropathy, Sweet syndrome, and paraneoplastic pemphigus (PNP). PNP is a rare autoimmune mucocutaneous disease characterized by severe stomatitis, polymorphic skin eruptions, and associated underlying neoplasms most commonly non-Hodgkin's lymphoma, chronic lymphocytic leukemia, and Castleman disease. PNP is characterized on histopathology as dyskeratotic epithelial cells with acantholysis with a typical immunofluorescence staining pattern of direct and/or indirect staining of intercellular, basement membrane, and dermoepidermal junction with immunoglobulin-G and C3. PNP has been described to have poor prognosis with a mortality range of 75-90% and a mean survival of less than 1year. We describe a previously unreported case of PNP associated with acute myeloid leukemia (AML) where the patient presented with a nonhealing ulcer and hemorrhagic crusting on the face that did not respond to antimicrobials and steroids. Investigations revealed leukocytosis with peripherally circulating blasts. Skin biopsy revealed an evolving PNP and bone marrow biopsy confirmed evidence of AML. The patient underwent induction, consolidation, and then successful allogenic bone marrow transplantation with complete remission. The skin lesion, which was initially refractory to treatments, surprisingly resolved within 7days of starting induction chemotherapy. In this case, the skin lesion was a key factor in early diagnosis and instituting treatment for the underlying AML. Early intervention gave our patient a better outcome with an ongoing survival of 18months since diagnosis, maintaining complete remission.

Rare cause of atrial fibrillation: a thymic mass.

A 62-year-old African-American man admitted to the emergency room with chest pain and exertional dyspnoea. He was found to be in rapid atrial fibrillation with pulmonary oedema. A transoesophageal echocardiogram performed prior to cardioversion showed a depressed left ventricular function (ejection fraction 30%) and an extracardiac heterogeneous echodensity compressing the right atrium and the superior vena cava. CT of the chest confirmed an anterior mediastinal mass measuring 13.5×6.6×10.1 cm, exerting a mass effect on the right atrium with mediastinal and right hilar adenopathy. CT-guided biopsy of the mediastinal mass revealed thymic carcinoma (squamous cell subtype). The metastatic workup was negative. The mass was deemed surgically unresectable due to its proximity to the heart. Chemotherapy was initiated with carboplatin/paclitaxel every 3 weeks with plans for intensity modulated radiotherapy after one to two cycles of chemotherapy. The patient recently had a repeat CT scan of the chest showing regression of the tumour.