Trepanning or trephines: a history of bone marrow biopsy

Abstract We report a unique case of a patient with a neuroendocrine tumor localized to the bone marrow. The patient had a history of hairy cell leukemia, and the neuroendocrine tumor was detected in a bone marrow biopsy specimen obtained to assess response to 2-chlorodeoxyadenosine therapy. The neuroendocrine tumor was present as nodules that replaced approximately 15% of the bone marrow medullary space and was composed of round cells with fine chromatin, indistinct nucleoli, and relatively abundant, granular, eosinophilic cytoplasm. Histochemical stains showed cytoplasmic reactivity with Grimelius and Fontana-Masson stains, and immunohistochemical studies showed positivity for keratin and chromogranin. The histologic, cytochemical, and immunohistochemical features resembled a carcinoid tumor, and metastasis to the bone marrow was considered initially. The patient was asymptomatic without diarrhea, flushing, or cardiac valve disease. Serotonin production, assessed by the measurement of serum 5-hydroxyindoleacetic acid and substance P levels, was normal. Extensive clinical and radiologic work-up and endoscopy of the gastrointestinal tract to detect a primary site other than the bone marrow were negative. Follow-up bone marrow biopsy 7 years after the initial diagnosis was positive for persistent neuroendocrine tumor. The patient has not received any therapy specific for the neuroendocrine tumor and has had no clinical symptoms or evidence of progression after 9 years of clinical follow-up. We suggest that this neuroendocrine tumor may have arisen in the bone marrow.

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Tubulointerstitial Nephritis and Uveitis Syndrome with non Caseating Granuloma in Bone Marrow Biopsy

Acta Médica Portuguesa ◽

10.20344/amp.3981 ◽

2014 ◽

Vol 27 (2) ◽

pp. 268 ◽

Cited By ~ 2

Author(s):

Maria Fraga ◽

Maria João Nunes da Silva ◽

Margarida Lucas ◽

Rui M. Victorino

Keyword(s):

Bone Marrow ◽

Weight Loss ◽

Clinical Practice ◽

Bone Marrow Biopsy ◽

Interstitial Nephritis ◽

Tubulointerstitial Nephritis ◽

Rare Condition ◽

Blood Tests ◽

Caseating Granuloma ◽

History Of

<p>The Tubulointerstitial Nephritis and Uveitis syndrome is a very rare condition, probably under-diagnosed in clinical practice. It is<br />characterized by the combination of an interstitial nephritis and uveitis, and is an exclusion diagnosis. Tissue non caseating granuloma can be rarely present, with only 6 cases reported on bone marrow. We present a case of a 55 year old female with a 3-month history of asthenia and weight loss. Blood tests showed anemia and renal insufficiency. Renal biopsy revealed interstitial nephritis and the bone marrow biopsy showed caseating granuloma. One month later anterior uveitis of the left eye appeared. An extensive exclusion of all possible causes allowed a diagnosis of Tubulointerstitial Nephritis and Uveitis syndrome with caseating granuloma in bone marrow. As ocular and renal manifestations may not occur simultaneously, Tubulointerstitial Nephritis and Uveitis Syndrome should be systematically considered in cases of interstitial nephritis and/or uveitis, and tissue granulomas can be part of this rare syndrome.</p>

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Diagnosis and Treatment of Essential Thrombocythemia: Assessment of Current Clinical Practice.

Blood ◽

10.1182/blood.v114.22.1903.1903 ◽

2009 ◽

Vol 114 (22) ◽

pp. 1903-1903

Author(s):

Vivian H Y Lee ◽

Erica Peterson ◽

Leslie Zypchen ◽

Lynda M Foltz

Keyword(s):

Bone Marrow ◽

Clinical Practice ◽

High Risk ◽

Diagnostic Criteria ◽

Bone Marrow Biopsy ◽

Jak2 V617f ◽

Low Risk ◽

Cytoreductive Treatment ◽

Risk Patients ◽

History Of

Abstract Abstract 1903 Poster Board I-926 Introduction: The discovery of the JAK2 V617F gene mutation has significantly altered the clinical diagnostic approach to the myeloproliferative neoplasms, reflected in the revised 2008 WHO diagnostic criteria. Both the 2001 and 2008 diagnostic criteria for essential thrombocythemia (ET) require a bone marrow biopsy showing megakaryocytic proliferation to make a diagnosis of ET. Published expert opinion based on clinical studies suggests that ET patients > 60 years old or with history of thrombosis should be characterized as high risk and treated with hydroxyurea. It is unclear whether physicians in clinical practice utilize the WHO diagnostic criteria or follow expert treatment recommendations for ET. Methods: We conducted a retrospective chart review of all patients with a clinical diagnosis of ET made by a hematologist who were seen in clinic from 2006 to 2008 at two university teaching hospitals in Vancouver, Canada. Data collected included demographic information, thrombosis history, diagnostic tests performed and treatment administered. Testing for JAK2 V617F became locally available in 2006, so for assessment of diagnostic tests performed, patients were divided into cohorts of diagnosis pre-2006 and 2006–2008. Patients were characterized as high risk if > 60 y or history of thrombosis at the time of diagnosis. All other patients were considered low risk. Results: Diagnostic information was available for 116 patients diagnosed prior to the availability of testing for JAK2 V617F. 65% (75/116) of patients in this cohort had a bone marrow biopsy performed (table 1). 44 patients received a new diagnosis of ET from 2006–2008. Only 48% (21/44) patients in this cohort had a bone marrow biopsy performed, significantly less than in the historical cohort (p = 0.019). 41/44 had JAK2 V617F testing performed: 41% (17/41) were JAK2 V617F negative, 56% (23/41) positive and 1 equivocal. Bone marrow biopsy was performed in 59% (10/17) of JAK2 V617F negative patients and 39% (9/23) of JAK2 V617F positive patients (p = 0.055) (table 1). Bone marrow biopsy was also performed in 1 patient with equivocal JAK2 V617F testing and 1 patient not tested for JAK2 V617F. 170 patients diagnosed with ET were seen in follow up 2006–2008. 64% (109/170) were high risk due to age > 60 y or history of thrombosis. The remaining 36% (61/170) were considered low risk. Hydroxyurea was used preferentially over anagrelide for treatment of ET (table 2). Only 76% of high risk patients were receiving cytoreductive treatment. 23% of low risk patients received cytoreductive treatment. ASA was prescribed to 89% of high risk and 79% of low risk patients. Conclusion: Despite the requirement for a bone marrow biopsy to meet the WHO criteria for ET, hematologists performed a bone marrow biopsy in less than half of patients they diagnosed with ET since 2006. Hematologists performed bone marrow biopsy less frequently after JAK2 V617F testing became available, particularly in JAK2 V617F positive patients. A substantial portion of high risk patients (24%) were receiving no cytoreductive therapy, contrary to expert recommendation. Further study is required to understand the barriers to implementing treatment recommendations in clinical practice. This study highlights the challenges in translating published diagnostic criteria and treatment guidelines into changes in patient care. Disclosures: No relevant conflicts of interest to declare.

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Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with Deletion of Chromosome 20q

Case Reports in Hematology ◽

10.1155/2018/6819172 ◽

2018 ◽

Vol 2018 ◽

pp. 1-3 ◽

Cited By ~ 1

Author(s):

Sukesh Manthri ◽

Naresh K. Vasireddy ◽

Sindhura Bandaru ◽

Swati Pathak

Keyword(s):

Bone Marrow ◽

Myelodysplastic Syndrome ◽

Bone Marrow Biopsy ◽

Animal Studies ◽

Myeloproliferative Neoplasms ◽

Disease Process ◽

Erythroid Differentiation ◽

Elevated Bilirubin ◽

History Of ◽

Hereditary Condition

Elliptocytosis is commonly seen as a hereditary condition. We present a case of myelodysplastic syndrome (MDS) del(q20) variant with concomitant acquired elliptocytosis. A 73-year-old male with a history of prostate cancer presented to the hospital for evaluation of bleeding gums. Initial evaluation showed Hgb of 9.3 gm/dl, hematocrit of 28%, platelet count of 36,000 K/cmm, and WBC of 1.8 K/cmm with an ANC of 0.8 K/cmm. A slightly elevated bilirubin of 1.2 mg/dl spurred a hemolytic workup. Peripheral smear showed frequent elliptocytes, teardrop cells, schistocytes, and occasional spherocytes. Bone marrow biopsy did not show significant fibrosis to explain the elliptocytosis. Cytogenetics showed 20q deletion, and later, he was started on therapy for intermediate risk MDS. Bone marrow biopsy after completion of 6 cycles showed complete cytogenetic remission with significant improvement in elliptocytosis. Elliptocytosis in the setting of MDS has rarely been reported, and association with 20q deletion is even rarer. Animal studies have shown that haploinsufficiency ofL3MBTL1contributes to some (20q−) myeloproliferative neoplasms and myelodysplastic syndromes by affecting erythroid differentiation. Our case report raises interesting questions: Does MDS with rarely reported elliptocytosis indicate a disease process that is different from the usual 20q deletion? Is haploinsufficiency ofL3MBTL1responsible for this manifestation?

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Disseminated Malignancy Misdiagnosed as Thrombotic Thrombocytopenic Purpura: A Report of 10 Patients and a Systematic Review of Published Cases.

Blood ◽

10.1182/blood.v108.11.1062.1062 ◽

2006 ◽

Vol 108 (11) ◽

pp. 1062-1062

Author(s):

Kristin K. Francis ◽

Nalini Kalyanam ◽

Deirdra R. Terrell ◽

Sara K. Vesely ◽

James N. George

Keyword(s):

Systematic Review ◽

Bone Marrow ◽

Platelet Count ◽

Plasma Exchange ◽

Thrombotic Thrombocytopenic Purpura ◽

Bone Marrow Biopsy ◽

Thrombocytopenic Purpura ◽

History Of ◽

History Of Cancer ◽

Systemic Malignancy

Abstract Patients with disseminated malignancy who present with microangiopathic hemolytic anemia and thrombocytopenia may be misdiagnosed as thrombotic thrombocytopenic purpura (TTP), resulting in inappropriate plasma exchange treatment, a procedure with major risk, and delay of appropriate chemotherapy. We report the 17 year experience of The Oklahoma TTP-HUS Registry, 1989–2005, and a systematic review of previously published case reports. Ten of 335 consecutive patients in the Oklahoma Registry who were initially diagnosed with their first episode TTP and treated with plasma exchange were subsequently discovered to have disseminated malignancy; only one had a history of cancer. These 10 patients were compared to the 133 concurrent patients with idiopathic TTP. Disseminated malignancy (n=10) Idiopathic TTP (n=133) P Data are median values. P-value for neurologic symptoms compares distribution of abnormalities. Number of patients who had ADAMTS13 measured is in parentheses. 8 idiopathic TTP patients never had plasma exchange (PE). Age (years) 56 47 0.106 Sex (% female) 30% 73% 0.008 Duration of sx (days) 21 8 0.005 Presenting sx Weakness 70% 53% 0.347 cough, dyspnea 70% 26% 0.007 Fever 50% 31% 0.292 abdominal pain 40% 35% 0.745 Nausea/vomiting 20% 53% 0.052 Neurologic abnormalities Severe 20% 47% 0.128 Minor 60% 29% None 20% 24% Laboratory data hematocrit (%) 21 22 0.868 platelet count (103/ml) 21,000 13,000 0.328 creatinine (mg/dL) 2.4 2.0 0.761 LDH (U/L) 2894 1260 0.045 ADAMTS13 Median activity (%) 50(8) 23 (81) 0.167 <5% activity (% of pts) 0 30% 0.102 Response to PE 10% 82% (125) <0.001 Death (within 30 days) 90% 20% <0.001 Patients with disseminated malignancy had a longer duration of symptoms, were more often men, had more frequent presence of respiratory symptoms, higher LDH levels, more often failed to respond to plasma exchange treatment, and had a higher mortality. Neurologic abnormalities, hematocrit, platelet count, and serum creatinine were not different between the two groups. Diagnosis of malignancy was made by bone marrow biopsy in 6 patients but not until autopsy in 2 patients. A systematic review identified 19 additional patients, reported from 1965 to 2005, in whom TTP or HUS was initially suspected and systemic malignancy subsequently discovered. Only 5 patients had a history of cancer. Malignancy was not diagnosed until autopsy in 6 patients. Fourteen different malignant disorders were diagnosed in these 29 patients. CONCLUSIONS: Disseminated malignancy may be occult and may mimic TTP. A search for systemic malignancy, including a bone marrow biopsy, is appropriate when patients diagnosed with TTP have atypical clinical features or fail to respond to plasma exchange.

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A Case Report: Angioimmunoblastic T Cell Misdiagnosed as Pulmonary Sarcoidosis

10.21203/rs.3.rs-540042/v1 ◽

2021 ◽

Author(s):

xuerui Wang ◽

Xu jie ◽

Chen guang ◽

bingyan Zhan

Keyword(s):

Bone Marrow ◽

Lymph Node ◽

T Cell ◽

Bone Marrow Biopsy ◽

Cell Lymphoma ◽

Clinical Manifestations ◽

Pulmonary Sarcoidosis ◽

Lymph Node Biopsy ◽

Node Biopsy ◽

History Of

Abstract Introduction: Angioimmunoblastic T-cell lymphoma is a peripheral T-cell lymphoma subtype characterized by abnormal proliferation of T lymphocytes with hyperplasia of endothelial veins and follicular dendritic cells. Sarcoidosis is a non-caseating epithelial granulomatous disease of unknown cause, which can invade the whole body organs, especially the lungs and intrathoracic lymph nodes. The clinical manifestations are not specific. There are many similarities between the malignant lymphoma and pulmonary sarcoidosis in the early clinical manifestations, such as chest imaging and clinical manifestations, which are easy to be misdiagnosed. Methods: A fifty-three-year-old man presented with a two-month history of cough. This article uses the clinical data of a patient to reveal the main points that should be paid attention to in the diagnosis of lymphoma.Results: The patient were given right inguinal lymph node biopsy and bone marrow biopsy. Case Presentation: Here, A fifty-three-year-old man presented with a two-month history of cough. The effect was not good after one week of anti-infective and glucocorticoid treatment. Lymph node biopsy and bone marrow biopsy were performed. Conclusion: When we find that the therapeutic effect of pulmonary sarcoidosis is not good, we should make pathological diagnosis. We can prevent further deterioration of the disease through the above measures.

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