Synchronous presentation of Gaucher disease and solitary plasmacytoma with progression to multiple myeloma

2011 ◽  
Vol 56 (4) ◽  
pp. 1-4 ◽  
Author(s):  
M P H Hawkesford ◽  
A J Bowey ◽  
J Rao ◽  
N J Meara

A 37-year-old Polish immigrant presented with unilateral hip pain and difficulty weight-bearing. Plain radiography and magnetic resonance imaging (MRI) revealed a lytic lesion in the acetabulum, with abnormal serum electrophoresis and bone marrow biopsy. The patient was diagnosed with two rare conditions presenting synchronously – Gaucher disease and plasmacytoma. He was treated with enzyme therapy and radiotherapy, but subsequently developed a recurrence of plasmacytoma in the right femur, confirmed with bone marrow biopsy. This was also treated with radiotherapy, followed by a retrograde femoral nail to reduce the risk of pathological fracture. The patient went on to develop multiple lytic lesions in the ribs and vertebra, seen on MRI. Further bone marrow biopsy confirmed dissemination of the plasmacytoma into multiple myeloma, for which he was treated with systemic chemotherapy. In patients presenting with refractory bone or joint pain, haematological and histological investigations should be considered to exclude less common diagnoses.

1989 ◽  
Vol 75 (2) ◽  
pp. 90-96 ◽  
Author(s):  
Massimo Federico ◽  
Richard L. Magin ◽  
Harold M. Swartz ◽  
Robert M. Wright ◽  
Vittorio Silingardi

Current methods for the study of bone marrow to evaluate possible primary or metastatic cancers are reviewed. Bone marrow biopsy, radionuclide scan, computed tomography and magnetic resonance imaging (MRI) are analyzed with regard to their clinical usefulness at the time of diagnosis and during the course of the disease. Bone marrow biopsy is still the examination of choice not only in hematologic malignancies but also for tumors that metastasize into the marrow. Radionuclide scans are indicated for screening for skeletal metastases, except for those from thyroid carcinoma and multiple myeloma. Computed tomography is useful for cortical bone evaluation. MRI shows a high sensitivity in finding occult sites of disease in the marrow but its use has been restricted by high cost and limited availability. However, the future of MRI in bone marrow evaluation seems assured. MRI is already the method of choice for diagnosis of multiple myeloma, when radiography is negative, and for quantitative evaluation of lymphoma when a crucial therapeutic decision (i.e. bone marrow transplantation) must be made. Finally, methods are being developed that will enhance the sensitivity and specificity of MRI studies of bone marrow.


JMS SKIMS ◽  
2012 ◽  
Vol 15 (1) ◽  
pp. 74-75
Author(s):  
Mushtaq Ahmad ◽  
Farhana Siraj ◽  
Mubashir Ahmad ◽  
Shabir Ahmad

The cutaneous mucinosis are a heterogenous group of disorders in which mucin accumulates in the skin. A 66 years old man presented with asymptomatic flesh coloured papules on the extremities without any truncal involvement of 3 months duration. Histopathological examination of a lesional biopsy revealed unremarkable epidermis with dermis showing pallor and loosening of collagen bundles in mucin like deposition suggestive of cutaneous mucinosis. Patient was put on steroids and hydroxycholoroquinine. Three months later he presented with encephalopathy. Investigation revealed hypercalcaemia, reversal of albumin globulin ratio, azotemia. X-ray skull revealed lytic lesions. Bone marrow aspiration and bone marrow biopsy was suggestive of multiple myeloma. This is an unknown presentation, as localized cutaneous mucinosis is not associated with systemic disease. Patient was started on chemotherapy for multiple myeloma. JMS 2012;15(1):74-75.


2018 ◽  
Vol 63 (No. 4) ◽  
pp. 187-192
Author(s):  
S. Kim ◽  
E. Son ◽  
S. Lee ◽  
S. Lee ◽  
H. Kim ◽  
...  

An eight-year-old spayed female Yorkshire terrier was presented with a one-month history of conspicuous weight-bearing lameness in the right hindlimb, mild anorexia, intermittent vomiting and marked polydipsia and polyuria. Radiographs revealed circular radiolucent foci of variable size in the skeleton. Haematological and serum biochemistry examination revealed mild leucopoenia with severe neutropaenia, mild non-regenerative anaemia, moderate thrombocytopoenia, moderate hyperglobulinaemia, mild hypoalbuminaemia, mild azotaemia and moderate hypercalcaemia. Quantification of serum immunoglobulins revealed elevated IgA and IgG. Serum protein electrophoresis showed a broad appearance with a β-region spike. Plasma cells accounted for 7.6% of the cells in the bone marrow. Serum immunofixation electrophoresis (IFE) revealed IgA lambda gammopathy. Immunohistochemistry in the bone marrow was diffusely positive for multiple myeloma oncogene 1 (MUM-1) and CD20. To our knowledge, this is first case report of multiple myeloma associated with IgA lambda gammopathy confirmed via IFE and immunohistochemical expression of MUM-1 in a dog.


2003 ◽  
Vol 117 (10) ◽  
pp. 829-831 ◽  
Author(s):  
David Sinclair ◽  
Adel Resouly ◽  
Anne Spedding

We present a patient with multiple myeloma whose only presenting symptom was stridor caused by a subglottic stenosis. Biopsy suggested the presence of amyloid which prompted immunological investigations that showed hypogammaglobulinaemia and the presence of Bence Jones proteinuria at 0.93 g/24 hours. Further investigation demonstrated a 15 per cent plasma cell infiltrate into the bone marrow and a lytic lesion in the mid-shaft of the right femur. Chemotherapy and localized radiotherapy were commenced. This is a most unusual presentation of multiple myeloma and shows that immunoglobulin profiles should be properly investigated in such cases.


2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Fatemeh Rezaei ◽  
Hesamedin Nazari ◽  
Babak Izadi

A 46-year-old male patient referred to Department of Oral Medicine, with the primary chief complaint of a painless swelling in the right side of mandibular. A panoramic radiograph revealed a well-defined, multilocular radiolucent bony lesion with thin and straight septa in the right side of mandible extending from distal of canine to mesial of third molar. Histological examination showed a solid proliferation of atypical plasmacytoid cells, which was indicative of plasmacytoma. A systemic workup for the final diagnosis was performed to rule out multiple myeloma.


2018 ◽  
Vol 7 (9) ◽  
pp. 253
Author(s):  
Elochukwu Ibekwe ◽  
Neil Horsley ◽  
Lan Jiang ◽  
Nadine-Stella Achenjang ◽  
Azubuogu Anudu ◽  
...  

Central Nervous System (CNS) involvement in multiple myeloma and/or multifocal solitary plasmacytoma is rare. Although they are unique entities, multiple myeloma (MM) and plasmacytoma represent a spectrum of plasma cell neoplastic diseases that can sometimes occur concurrently. Plasmacytomas very often present as late-stage sequelae of MM. In this case report, we report a 53-year-old female presenting with right abducens cranial nerve (CN) VI palsy as an initial presentation secondary to lesion of the right clivus.


Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 34-35
Author(s):  
Manasi M. Godbole ◽  
Peter A. Kouides

Introduction: Most studies on the diagnostic yield of bone marrow biopsy including the one by Hot et al. have focused on the yield of bone marrow biopsies in diagnosing the source of fever of unknown origin. However, there have not been any studies performed to our knowledge looking at overall practice patterns and yield of bone marrow biopsies for diagnoses other than fever of unknown origin. We aim to determine the most common indications for performing bone marrow biopsies in a community-based teaching hospital as well as the yield of the biopsies in patients with specified and unspecified pre-test indications to estimate the rate of uncertain post-test diagnoses. Methods: We performed a retrospective data collection study at Rochester General Hospital, NY. A comprehensive search was conducted in our electronic medical data to identify all patients who underwent bone marrow biopsies over a 5 year period from January 2011 - December 2016 for indications other than fever of unknown origin. Patient data including demographics, pre-bone marrow biopsy diagnosis and post-bone marrow diagnosis was obtained. All patients above the age of 18 who underwent bone marrow biopsy for indications other than fever of unknown origin or follow up treatment of a hematological malignancy were included. Results: A total of 223 biopsies were performed. The median age was 59 years (age range- 23-95). One hundred and sixteen patients were male and 107 were female. The most common indications for performing bone marrow biopsy were evaluation of the following possible conditions: multiple myeloma (n=54), myelodysplastic syndrome [MDS] (n=47), lymphoma (n=28) and leukemia (n=18) as well as non-specific indications such as pancytopenia (n=40), anemia (n=22) and thrombocytopenia (n=11). The proportion of cases confirmed by bone marrow biopsy was 45/54 (83%) with the pre-marrow diagnosis of multiple myeloma, 34/47 cases (72%) with the pre-marrow diagnosis of MDS, 15/18 (83%) with the pre-marrow diagnosis of leukemia and 13/28 (46%) in those with the pre-marrow diagnosis of rule out lymphoma. Thirteen cases (18%) with possible MDS had post-bone marrow diagnoses of leukemia, anemia of chronic disease, myelofibrosis or medication-related changes. Five out of twenty two cases (23%) for anemia and 3/11 cases (27%) for thrombocytopenia without otherwise specified pre-bone marrow etiology had uncertain diagnosis after bone marrow biopsy. Conclusion: In about a fifth of patients necessitating a bone marrow, the diagnosis is discordant and can be surprising. It is also worth reporting that in these discordant results, non-hematological causes such as medications, anemia due to chronic diseases or conditions such as cirrhosis or splenomegaly from other etiologies were among the final diagnoses. Interestingly, 20% of the patients with unspecified pre-bone marrow diagnoses such as anemia or thrombocytopenia in our study had an unclear post-bone marrow diagnosis despite undergoing bone marrow biopsy. Our findings are a reminder that the bone marrow exam does not always lead to a definitive diagnosis and the need by exclusion to include in the differential non-hematological etiologies such as nutritional deficiencies, chronic kidney disease or autoimmune disorders. Disclosures No relevant conflicts of interest to declare.


2017 ◽  
Vol 16 (1) ◽  
pp. 142-145
Author(s):  
Bimal K Agrawal ◽  
Anshul Sehgal ◽  
Vikas Deswal ◽  
Prem Singh ◽  
Usha Agrawal

Multiple myeloma is a neoplasm of plasma cells in the bone marrow. It is characterised by lytic lesions in the bones, marrow plasmacytosis and presence of M protein in serum and/or urine. Serum ?2 microglobulin is also raised and can be used for classification and prognostication of the disease. In the absence of M protein, the disease is known as non-secretory myeloma. It is proposed that raised ?2 microglobulin can be used for diagnosis and therapeutic guidance in the absence of M protein. A rare case of nonsecretory myeloma with neurocognitive impairment along with review of literature is being presented. The patient had multiple lytic lesions in bones with marked increase in plasma cells in bone marrow. M protein was not detectable in serum or urine but serum ?2 microglobulin was much elevated.Bangladesh Journal of Medical Science Vol.16(1) 2017 p.142-145


2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Abdullah M. Khan ◽  
Jameel Muzaffar ◽  
Hermant Murthy ◽  
John R. Wingard ◽  
Jan S. Moreb

Lenalidomide maintenance following autologous stem cell transplant (ASCT) is considered the standard of care for eligible patients with multiple myeloma (MM). A recent meta-analysis has provided additional evidence that lenalidomide maintenance is associated with a higher incidence of second primary malignancies, including both hematologic and solid malignancies. Acute lymphoblastic leukemia (ALL) as a second primary malignancy is rarely described in the literature. Herein, we describe two patients with MM treated with induction therapy, ASCT, and lenalidomide maintenance that experienced cytopenias while on maintenance. ALL was unexpectedly diagnosed on bone marrow biopsy. One patient was diagnosed on routine biopsy performed as part of requirements of the clinical trial. Both patients had B-cell ALL, without known poor risk cytogenetics, and were managed with standard induction therapies resulting in complete remission. We also reviewed the literature for similar cases of secondary ALL (sALL) in MM patients exposed to immunomodulatory drugs (IMiDs). In conclusion, persistent cytopenias in responding MM patients receiving IMiDs maintenance should be an indication for bone marrow biopsy. Patients develop sALL after median of 32.5 months (range, 20–84) from being on lenalidomide or thalidomide maintenance, often presenting with cytopenias, display low tolerance to chemotherapy, but remission can often be achieved.


Medicina ◽  
2020 ◽  
Vol 56 (4) ◽  
pp. 195
Author(s):  
Alberto Stefano Tagliafico ◽  
Liliana Belgioia ◽  
Alessandro Bonsignore ◽  
Federica Rossi ◽  
Giulia Succio ◽  
...  

Background and objectives: In order to increase the accuracy of lytic lesion detection in multiple myeloma, a dedicated second-opinion interpretation of medical images performed by subspecialty musculoskeletal radiologists could increase accuracy. Therefore, the purpose of this study is to evaluate the added value (increased accuracy) of subspecialty second-opinion (SSO) consultations for Computed Tomography (CT) examinations in Multiple Myeloma (MM) patients undergoing stem cell transplantation on standard computed tomography with a focus on focal lesion detection. Materials and Methods: Approval from the institutional review board was obtained. This retrospective study included 70 MM consecutive patients (mean age, 62 years ± 11.3 (standard deviation); range, 35–88 years) admitted in the last six years. Pre-transplant total-body CT (reported by general radiologists) was the only inclusion criteria. Each of these CT examinations had a second-opinion interpretation by two experienced subspecialty musculoskeletal (MSK) radiologists (13 years of experience and 6 years of experience, mean: 9.5 years), experts in musculoskeletal radiology and bone image interpretation with a focus on lytic lesions. Results: Per lesion intra- and inter-observer agreement between the two radiologists was calculated with K statistics and the results were good (K = 0.67: Confidence Inteval (CI) 95%: 0.61–0.78). When the initial CT reports were compared with the re-interpretation reports, 46 (65%) of the 70 cases (95% CI: 37–75%) had no discrepancy. There was a discrepancy in detecting a clinically unimportant abnormality in 10/70 (14%) patients (95% CI: 7–25%) unlikely to alter patient care or irrelevant to further clinical management. A discrepancy in interpreting a clinically important abnormality was registered in 14/70 (21%) patients for focal lesions. The mean diameter of focal lesions was: 23 mm (95% CI: 5–57 mm). The mean number of focal lesions per patient was 3.4 (95% CI). Conclusions: subspecialty second-opinion consultations in multiple myeloma CT is more accurate to identify lesions, especially lytic lesions, amenable to influence patients’ care.


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