Polycythaemia: an unusual presentation of multiple myeloma

Hutchison, Elaine J; Taverna, Josephine A.; Yu, Qi; Yeager, Andrew M.

doi:10.1136/bcr-2016-216686

Cited by 9 publications

(11 citation statements)

References 27 publications

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“…One theory that has been posited in attempt to explain this rare association between PCM and polycythemia is that the deposition of monoclonal light chains causes damage in kidney tubules leading to hypoxia, resulting in increased EPO production. The cases mentioned above in which treatment of the PCM ameliorated the polycythemia are compatible with this theory [ 7 ]. This theory seemingly would require the plasma cell malignancy to precede the polycythemia.…”

Section: Discussionmentioning

confidence: 70%

“…The exclusion of these PV cases leaves a total of six cases in the literature (including this current case of the smouldering variant of PCM which was deemed to be not to be PV due to the absence of the archetypal V617F mutation and elevated EPO levels even though exon 12 mutational studies were not performed), all of which can be characterized as PCM with concurrent polycythemia of undetermined etiology. In three of these cases, the polycythemia significantly preceded the diagnosis of PCM (as in our case), while, in the other two cases, the diseases were diagnosed concurrently [ 7 ]. The initial treatment in all of the cases was phlebotomy, with no known treatment for the myeloma in all of the cases in which the polycythemia preceded the myeloma.…”

Section: Discussionmentioning

confidence: 88%

“…The initial treatment in all of the cases was phlebotomy, with no known treatment for the myeloma in all of the cases in which the polycythemia preceded the myeloma. Interestingly, in the two cases in which the diseases presented concurrently, treatment of the myeloma led to amelioration of both the myeloma and the polycythemia, suggesting an interconnected mechanism [ 7 , 8 ].…”

Section: Discussionmentioning

confidence: 99%

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Concurrent Polycythemia of Undetermined Etiology and Smouldering Plasma Cell Myeloma

Katerji

Hudson

2018

Case Reports in Pathology

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The combination of polycythemia and plasma cell myeloma occurring concurrently is very rare and few cases have been reported in the literature. Further, the vast majority of these cases are cases of polycythemia vera and myeloma. Here, we present a case of polycythemia of undetermined etiology and myeloma. The patient is a 48-year-old Caucasian male who was originally diagnosed with polycythemia of undetermined etiology. Twelve years later, when a bone marrow biopsy was performed in an attempt to determine the etiology of the polycythemia, findings diagnostic of plasma cell myeloma were discovered. Subsequent serum studies were also consistent with a plasma cell neoplasm, while evaluation for end-organ damage was negative. A battery of genetic and biochemical tests ruled out various congenital polycythemias, leading to a final diagnosis of polycythemia of undetermined etiology and smouldering plasma cell myeloma. This case highlights that while being unusual, polycythemia and plasma cell myeloma can occur concurrently, and, in this report, we discuss both entities and potential mechanisms of the pathophysiology of the concurrent presentation.

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Section: Discussionmentioning

confidence: 70%

Section: Discussionmentioning

confidence: 88%

Section: Discussionmentioning

confidence: 99%

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Concurrent Polycythemia of Undetermined Etiology and Smouldering Plasma Cell Myeloma

Katerji

Hudson

2018

Case Reports in Pathology

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“…Interestingly, after review of the literature, we have identified four patients of MM or smoldering multiple myeloma (SMM) with unexplained secondary erythrocytosis. Two patients were diagnosed erythrocytosis years before the detection of MM, and the others were diagnosed simultaneously with secondary erythrocytosis and MM/SMM ( 29 – 32 ). Their monoclonal proteins have been reported to be IgG κ or IgA λ, which were both seen in TEMPI syndrome.…”

Section: Clinical Featuresmentioning

confidence: 99%

TEMPI Syndrome: Update on Clinical Features, Management, and Pathogenesis

Liu

Fan

et al. 2022

Front. Endocrinol.

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TEMPI (telangiectasias, elevated erythropoietin level and erythrocytosis, monoclonal gammopathy, perinephric fluid collections, and intrapulmonary shunting) syndrome is a rare and newly defined multisystemic disease, which belongs to “monoclonal gammopathy of clinical significances”. Due to its rarity, the etiology, pathogenesis, and clinical features of this disease remain largely unknown. Owing to its hidden and diverse clinical manifestations, missed diagnosis and misdiagnosis are common. In recent years, as more patients (including three fatal cases) were identified, some special clinical manifestations other than the typical pentad of TEMPI syndrome have been reported. Meanwhile, several studies attempting to identify the pathogenesis of TEMPI syndrome were conducted. In this review, we summarize the reported clinical characteristics of TEMPI syndrome and discuss the current and potential treatment options for patients with TEMPI syndrome, including those with relapsed/refractory disease. Furthermore, we provide an overview of current knowledge on the pathophysiology of TEMPI syndrome.

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“…5,6 The report on the simultaneous coexistence of PV and MM is rare, with about twenty-four cases reported in the literature. [7][8][9][10][11][12][13][14][15] Most of these reports included patients who had antecedent or concomitant PV or who already developed secondary myeloma after radiation therapy of PV for years. We describe a female patient who presented with NDMM and subsequently met diagnostic criteria of PV well established by extensive laboratory workup for the first time.…”

Section: Introductionmentioning

confidence: 99%

Concurrent Polycythemia Vera with Newly Diagnosed Multiple Myeloma: Case Report and Literature Review

Yuan,

Liu,

Wang

et al. 2023

JIR

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Concurrent polycythemia vera with newly diagnosed multiple myeloma is extremely rare. We described a 70-year-old woman with concurrent polycythemia vera and newly diagnosed multiple myeloma. Genetic testing confirmed the JAK2 V617F mutation for the first time, while determination of serum erythropoietin decreased. A retrospective review of our patient's case was conducted thereafter, and related literature was systemically reviewed. We totally identified eight cases with concurrent polycythemia vera with newly diagnosed multiple myeloma, which were further analyzed and compared. The present case is the first patient of newly diagnosed multiple myeloma with diagnosis of polycythemia vera confirmed by positive JAK2 V617F mutation. Abnormal erythremia, hepatosplenomegaly and thrombosis history suggested comorbidity of polycythemia vera with newly diagnosed multiple myeloma. The bortezomib-based chemotherapy regimen seemed to be effective on controlling the proliferation of erythrocyte. Whereas the pathogenesis of these two entities remains to be further investigated.

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Polycythaemia: an unusual presentation of multiple myeloma

Cited by 9 publications

References 27 publications

Concurrent Polycythemia of Undetermined Etiology and Smouldering Plasma Cell Myeloma

Concurrent Polycythemia of Undetermined Etiology and Smouldering Plasma Cell Myeloma

TEMPI Syndrome: Update on Clinical Features, Management, and Pathogenesis

Concurrent Polycythemia Vera with Newly Diagnosed Multiple Myeloma: Case Report and Literature Review

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