A teenager with recurrent fractures and multiple bone lesions: a diagnostic challenge

Abstract Introduction/Objective Plasmablastic myeloma (PBM) is a rare and aggressive plasma cell neoplasm. Differentiating PBM from plasmablastic lymphoma (PBL) represents a diagnostic challenge, as both diseases have overlapping cytomorphologic and immunophenotypic features. Genetic mutations in MYC occur in a majority of PBL cases but rarely in PBM, thus can theoretically be used to differentiate between both neoplasms. Methods We report a case of a 53-year-old female who presented with a rapidly growing mass in her right mandible. Biopsy revealed circumscribed nodules of immunoblastic cells with moderate cytoplasm, large vesicular nuclei and large prominent nucleoli. Apoptotic debris and brisk mitoses were present. Molecular testing revealed a C-MYC rearrangement. The location of the neoplasm and the above described morphological features were suggestive of PBL, especially with a positive C-MYC rearrangement. The neoplastic cells were positive for CD138, MUM1,CD56 and kappa; and negative for CD45, CD20, PAX5, CD3, CD5, CD30, EBER-ISH, HHV8, ALK-1, Lambda, EMA, CD21, CD23, pancytokeratin, CK20, CK7, Cam5.2, chromogranin, synaptophysin, HMB45, S100, P16, P40. MIB-1 showed high positivity, approximately 95%. Results Patient underwent further diagnostic work up, her HIV antibodies result were negative however, she was found to be anemic (Hemoglobin 6.6 g/dl; reference range 12-16 g/dl) and hypercalcemic (Calcium 12.3 mg/dl; reference range 8.5-10.5 mg/dl). PET scan revealed multiple hypermetabolic lytic bone lesions. The bone marrow biopsy showed 80% cellularity with extensive involvement by atypical plasmacytic cells forming large clusters. The patient’s final diagnosis was PBM. Conclusion Differentiating PBM from PBL is essential as treatment is different. Although MYC rearrangement in PBM is not common, it has been demonstrated and therefore should not be used to exclude this diagnosis. Here, we highlight the importance of correlating detailed clinical, radiological, laboratory, histological and genetics data for reaching the final diagnosis.

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Renal Leiomyosarcoma: A Diagnostic Challenge

Case Reports in Oncological Medicine ◽

10.1155/2013/459282 ◽

2013 ◽

Vol 2013 ◽

pp. 1-3 ◽

Cited By ~ 3

Author(s):

Jose R. Valery ◽

Winston Tan ◽

Cherise Cortese

Keyword(s):

Renal Mass ◽

Early Stage ◽

Flank Pain ◽

Bone Lesions ◽

Brush Cytology ◽

Diagnostic Challenge ◽

Male Smoker ◽

Initial Biopsy ◽

Pathologic Analysis ◽

Prompt Diagnosis

Renal leiomyosarcoma is a very rare tumor that clinically and radiographically mimics more common renal malignancies. The infrequency of the condition makes it very difficult to diagnose. A 70-year-old male smoker presented with months of hematuria, right-sided flank pain, and weight loss. Imaging revealed a 3.8-centimeter renal mass that had characteristics similar to renal cell carcinoma. Initial biopsy of the mass was negative for malignancy. Two months later, subsequent imaging revealed what appeared to be metastatic bone lesions. Again, a biopsy of one of the lesions was negative for malignancy. Subsequent ureteral pyeloscopy, ureteroscopic renal pelvis biopsy, and brush cytology were negative for malignancy as well. The decision was made to perform nephrectomy for the removal of the mass. Pathologic analysis revealed renal leiomyosarcoma. This case illustrates the difficulty in diagnosing renal leiomyosarcoma. Repeated pathologic sampling was negative because of the tumor heterogeneity. Prompt diagnosis and treatment are very significant as surgical resection at an early stage offers the best prognosis.

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PReS-FINAL-2237: The diagnostic challenge of osteolytic bone lesions in autoinflammatory diseases: a case report

Pediatric Rheumatology ◽

10.1186/1546-0096-11-s2-p227 ◽

2013 ◽

Vol 11 (S2) ◽

Author(s):

R Caorsi ◽

P Picco ◽

A Buoncompagni ◽

S Signa ◽

F Minoia ◽

...

Keyword(s):

Case Report ◽

Autoinflammatory Diseases ◽

Bone Lesions ◽

Diagnostic Challenge

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Intraosseous lipoma - A rare cause of ‘cystic’ lesion of calcaneum

Journal of Pathology of Nepal ◽

10.3126/jpn.v6i12.16261 ◽

2016 ◽

Vol 6 (12) ◽

pp. 1040-1042

Author(s):

P Vijayan ◽

AM Babitha ◽

LM Ilias ◽

A Ponniah

Keyword(s):

Cystic Lesion ◽

Histopathological Examination ◽

Multimodality Imaging ◽

Bone Cyst ◽

Bone Lesions ◽

Diagnostic Challenge ◽

Recurrence Rates ◽

Intraosseous Lipoma ◽

Asymptomatic Patients ◽

Mri Features

Intraosseous lipoma is an uncommon benign bone neoplasm with most of them detected incidentally on multimodality imaging while being evaluated for an unrelated pathology. Long and cancellous bones are commonly involved. This lesion can present a diagnostic challenge to those uninitiated in its appearence because they can be often mistaken for other benign or malignant bone lesions such as enchondroma, fibrous dysplasia, osteoblastoma, bone infarct, bone cyst and chondrosarcoma. Here we report a case of symptomatic calcaneal lipoma in a 50 year old lady who presented with heel pain. Plain X-ray suggested cystic lesion of calcaneum. MRI revealed the presence of intralesional fat and histopathological examination confirmed the diagnosis. We present this report for its rarity and the clinching MRI features of this lesion, the excellent prognosis and near negligible recurrence rates, so that misdiagnosis leading to unnecessary workup, biopsy and treatment may be avoided, especially in asymptomatic patients.

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Non-Secretory Multiple Myeloma with Patchy Marrow Involvement and Aberrant Cytokeratin Expression

Acta Médica Portuguesa ◽

10.20344/amp.13235 ◽

2021 ◽

Vol 34 (13) ◽

Author(s):

Miguel Silva ◽

Joana Martins ◽

João Pinto ◽

Teresina Amaro

Keyword(s):

Multiple Myeloma ◽

Bone Marrow ◽

Bone Marrow Aspiration ◽

Normal Serum ◽

Bone Lesions ◽

Diagnostic Challenge ◽

Serum Free Light Chain ◽

Cytokeratin Expression ◽

History Of ◽

The Right

Non-secretory multiple myeloma is a rare form of the disease that presents a diagnostic challenge. A 69-year-old woman presented to the emergency department with a pathological fracture of the right clavicle, along with a history of asthenia and middle back pain in the preceding three months. Workup revealed multiple focal lytic bone lesions in the clavicles, ribs, skull and thoracic- lumbar-sacral spine, without evidence of anemia, hypercalcemia or renal failure, with no abnormal immunofixation in the serum or urine and with normal serum free light chain ratios. The Iliac crest bone marrow aspiration and biopsy revealed a scarcely involved marrow, However, biopsy of one of the focal bone lesions revealed a hypercellular bone marrow with phenotypically abnormal plasmocytes, along with an intriguing, albeit aberrant, cytokeratin expression. Non-secretory multiple myeloma is in itself a rare diagnosis. However, the combination of a patchy marrow involvement and aberrant cytokeratin expression makes this a noteworthy presentation.

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PW02-010 - The diagnostic challenge of bone lesions in AID

Pediatric Rheumatology ◽

10.1186/1546-0096-11-s1-a150 ◽

2013 ◽

Vol 11 (S1) ◽

Author(s):

R Caorsi ◽

P Picco ◽

A Buoncompagni ◽

S Signa ◽

F Minoia ◽

...

Keyword(s):

Bone Lesions ◽

Diagnostic Challenge

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Sphenoid Brown Tumor Associated with a Parathyroid Carcinoma

Case Reports in Endocrinology ◽

10.1155/2014/837204 ◽

2014 ◽

Vol 2014 ◽

pp. 1-5 ◽

Cited By ~ 2

Author(s):

Abelardo Loya-Solís ◽

Alejandra Mendoza-García ◽

Luis Ceceñas-Falcón ◽

René Rodríguez-Gutiérrez

Keyword(s):

Primary Hyperparathyroidism ◽

Parathyroid Carcinoma ◽

Bone Lesion ◽

Bone Lesions ◽

Brown Tumor ◽

Diagnostic Challenge ◽

Histopathology Result ◽

History Of ◽

Persistent Hyperparathyroidism ◽

Brown Tumors

Brown tumors are osteolytic bone lesions that occur as a result of persistent hyperparathyroidism. They usually appear late in the natural history of the disease and are currently very rare due to an earlier diagnosis of primary hyperparathyroidism. We present the case of a 53-year-old female with a 2-month history of bitemporal hemianopsia and diplopia. A computed tomography showed an osteolytic bone lesion that involved the sphenoid corpus and clivus. A biopsy was made and the histopathology result was consistent with a brown tumor. The aforementioned location is very infrequent to such tumors, and therefore represented a diagnostic challenge. However, in this case, its association to primary hyperparathyroidism was the clue for the diagnosis. The association of a brown tumor secondary to a parathyroid carcinoma has been seldom reported. This case represents, to our knowledge, one of the few brown tumors described in such location and the first secondary to a parathyroid carcinoma.

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