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![Karyotype of bone marrow aspirate: cytogenetics evaluation of the bone marrow reveal deletion of the long arm of one chromosome 20 [del(20)(q11.2q13.3)] (arrow).](profile/Dinesh-Pradhan-2/publication/281684015/figure/fig4/AS:614028338532359@1523407172778/Karyotype-of-bone-marrow-aspirate-cytogenetics-evaluation-of-the-bone-marrow-reveal.png)
Karyotype of bone marrow aspirate: cytogenetics evaluation of the bone marrow reveal deletion of the long arm of one chromosome 20 [del(20)(q11.2q13.3)] (arrow).
Source publication
Giant cell arteritis (GCA) is an immunologically mediated vasculitis of large and medium-sized vessels, typically affecting the cranial arteries and usually occurring in the elderly. GCA of the female genital tract is extremely rare with only 31 cases reported in the English literature. An 83-year-old white female with postmenopausal vaginal bleedi...
Context in source publication
Context 1
... patient was kept on regular follow-up when she was found to have persistent leukocytosis with lymphocy- tosis and some atypical lymphoid cells in the peripheral blood. She underwent bone marrow aspiration and biopsy that revealed hypercellular marrow involved by CD20 positive small B-cell neoplasm. The flow cytometric immunophenotypic studies performed on bone marrow identified a population of kappa-light chain restricted B-cells positive for CD19 and CD20, and partially positive for CD11c and CD25, but negative for CD5, CD10, and CD103. Based on the morphologic and immunopheno- typic findings, a diagnosis of MZL potentially of splenic, nodal, or mucosa-associated lymphoid tissue origin was offered. Bone marrow chromosome analysis exposed an abnormal clone with the deletion of the long arm of one Figure 4). The patient was started on rituximab and was also scheduled for temporal artery biopsy (TAB). Histologic examination of bilateral TAB revealed GCA with similar histologic features as in the genital organs. Corticosteroid therapy was initiated with improvement in her PMR symptoms. Methotrexate was given for some time to help taper corticosteroid ther- apy and prevent relapse. Treatment response was moni- tored by sequential measurements of ESR and CRP as well as by observing for any clinical signs. The patient is doing well after 3 years of follow-up with normal ESR and CRP levels and without needing ...
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Citations
... Other systemic manifestations of GCA[32][33][34][35][36][37][38][39][40][41][42][43][44][45] In terms of systemic manifestations of GCA, the discussion must include polymyalgia rheumatica (PMR), due to the apparent association of the two disease processes. Approximately 40-60% of patients diagnosed with GCA have PMR, and approximately 16-21% of PMR patients have GCA. ...
Purpose The purpose of this article is to review giant cell arteritis, with a focus on ophthalmic manifestations, and provide a quick reference for clinical identification, diagnosis and appropriate management. Summary Giant cell arteritis is one of a few true medical emergencies that may present initially to the eyecare professional. Understanding the clinical picture of disease course and management arms the eyecare professional with the ability to detect and manage early in the disease process, potentially preventing blindness and life-threatening systemic manifestations.
... Deletion of chromosome 20q is a common cytogenetic abnormality in various myeloid neoplasms, most notably myelodysplastic syndrome [1,13,14] but its association with lymphoid malignancies is rare and limited to a few reports. This includes a case of lymphoplasmacytic lymphoma/Waldenström macroglobulinemia [15] and two cases of marginal zone lymphoma [12,16]. Another study of 64 patients with chronic lymphocytic leukemia (CLL) revealed that del(20q) appears to be a therapyrelated abnormality in CLL involving both myeloid and lymphoid cells and may represent disease progression [17,18]. ...
Background
Diffuse large B-cell lymphoma (DLBCL) typically leads to effacement of the nodal architecture by an infiltrate of malignant cells. Rarely (<1%), DLBCL can present with an interfollicular pattern (DLBCL-IF) preserving the lymphoid follicles. It has been postulated that DLBCL-IF is derived from marginal zone B cells and may represent a large-cell transformation of marginal zone lymphoma (MZL), however no direct evidence has been provided to date. Here we describe a rare case of a diagnostically challenging DLBCL-IF involving a lymph node in a patient with a prior history of lymphadenopathy for several years and MZL involving skin. Case presentationA 53-year old man presented to our Dermatology Clinic due to a 1-year history of generalized itching, fatigue of 2–3 month’s duration, nausea and mid back rash that was biopsied. PET (positron emission tomography)/CT (computed tomography) was performed and revealed inguinal, pelvic, retroperitoneal, axillary, and cervical lymphadenopathy. The patient was referred to surgery for excisional biopsy of a right inguinal lymph node.Diagnostic H&E stained slides and ancillary studies were reviewed for the lymph node and skin specimens. B-cell clonality by PCR and sequencing studies were performed on both specimens.We demonstrate that this patient’s MZL and DLBCL-IF are clonally related, strongly suggesting that transformation of MZL to DLBCL had occurred. Furthermore, we identified a novel deletion of the long arm of chromosome 20 (del(20q12)) and a missense mutation in BIRC3 (Baculoviral IAP repeat-containing protein 3) in this patient’s DLBCL that are absent from his MZL, suggesting that these genetic alterations contributed to the large cell transformation. Conclusions
To our knowledge, this is the first report providing molecular evidence for a previously suspected link between MZL and DLBCL-IF. In addition, we describe for the first time del(20q12) and a missense mutation in BIRC3 in DLBCL. Our findings also raise awareness of DLBCL-IF and discuss the diagnostic pitfalls of this rare entity.
... A recent article reviewed 32 case reports of patients with female genital tract (FGT) GCA [111]. Most the patients were symptomatic and had constitutional symptoms suggestive of GCA. ...
... ESR was elevated in 69 % of cases, and was mostly associated with generalized constitutional symptoms. TAB was performed in 50 % of reported patients, of whom 75 % had histologically confirmed temporal arteritis [111]. Histological examination of the FGT specimens revealed that medium-and small-sized arteries of the myometrium, the most commonly involved site among the genital organs, were involved in 72 % of cases. ...
... Histological examination of the FGT specimens revealed that medium-and small-sized arteries of the myometrium, the most commonly involved site among the genital organs, were involved in 72 % of cases. This was followed by the ovaries and fallopian tube (each 47 %), cervix (37.5 %), and parametrium and vaginal cuff (each 3 %) [111]. GCA of the FGT was associated with malignancy in 18.8 % of cases [111]. ...
Background
Giant cell arteritis (GCA) is a systemic granulomatous vasculitis, primarily affecting medium-large arteries. It has a predilection for the aorta and its major branches, including the carotid and vertebral arteries. Ophthalmic artery involvement frequently leads to irreversible visual loss, and therefore GCA is one of the few true ophthalmic emergencies. GCA, although classified as a large vessel vasculitis, is known to affect smaller-sized vessels, resulting in a multiplicity of signs in the eye, some of which are often missed. PurposeWe set out to highlight some of the less frequently observed clinical signs, which may provide clues to clinically diagnosing GCA in patients presenting with non-classical features and inconclusive inflammatory markers. Methods
We review the literature and describe the diverse ocular features and some of the systemic findings that can be associated with GCA. ResultsAlthough the most common ocular manifestation of GCA is anterior ischaemic optic neuropathy, the clinical presentation of GCA can vary dramatically. In the absence of obvious ocular involvement, more subtle ophthalmic signs of anterior segment ischaemia, such as hypotony and anisocoria, may be present at the time of initial clinical examination. Conclusion
There are no specific biomarkers for disease to date; therefore, pertinent history and clinical examination can guide towards diagnosis in the acute setting. The diagnostic process is not always straightforward, yet appropriate and prompt diagnosis is critical to enable timely intervention and prevent significant morbidity.
Objet Le présent article a pour but de passer en revue la problématique de l’artérite temporale, en mettant l’accent sur les manifestations ophtalmiques, et de fournir un guide de référence rapide pour l’identification clinique, le diagnostic et la prise en charge appropriée. Résumé L’artérite temporale est l’une des rares urgences médicales qui peut amener un patient à se présenter initialement chez un professionnel des soins oculovisuels. La compréhension de l’évolution de la maladie et de sa prise en charge aidera le professionnel des soins oculovisuels à la détecter et à la prendre en charge tôt dans le processus, pouvant ainsi prévenir la cécité et des manifestations systémiques potentiellement mortelles.
Polymyalgia rheumatica (PMR) typically presents with acute onset of bilateral upper extremity pain (JAMA 315:2442–58, 2016) followed by functional impairment, including difficulties in rising, dressing, lifting, and reaching. Constitutional symptoms such as fatigue, depression, night sweats, weight loss, and low-grade fever are frequent. Elevated erythrocyte sedimentation rate (ESR, greater than 40 mm/h), elevated C-reactive protein (CRP) level or both are nonspecific but present in more than 90% of PMR patients. Giant cell arteritis (GCA) is an inflammatory vasculopathy of medium- and large-sized vessels. GCA typically presents with unilateral or bilateral headache, myalgia, fatigue, fever, weight loss, and sometimes acute vision loss. PMR and GCA are related inflammatory disorders with common risk factors and pathogenic abnormalities (N Engl J Med 371:1653–9, 2014). Corticosteroids are the drug of choice for treating PMR as well as GCA. Administration of corticosteroids is followed by release of symptoms within a few days, improves patients’ quality of life, and prevents disease complications.
PMR and GCA can present with unusual or unexpected symptoms and delay commencement of successful therapy.
