Background: Immunoglobulin M multiple myeloma and Waldenström macroglobulinemia are two different hematological diseases with the common finding of an immunoglobulin M monoclonal gammopathy of unknown significance. However, clinical characteristics of the two entities can overlap. Case presentation: In this report, we describe two cases of immunoglobulin M neoplasm with the same histological bone marrow presentation but with different clinical behavior, cytogenetics, and biological assessment. On the basis of comprehensive diagnostic workup, these patients were considered to have different diseases and treated accordingly with different approaches. Patient 1 (Caucasian man) presented with increased serum protein and immunoglobulin M (7665 mg/L) with an M-spike electrophoresis of 4600 mg/L. His bone marrow biopsy revealed a small-cell immunoglobulin M multiple myeloma. The result of testing for the MYD88 L265P mutation was negative, while fluorescence in situ hybridization analysis showed translocation t(11,14). A diagnosis of immunoglobulin M-κ multiple myeloma was made. Patient 1 was a candidate for bortezomib plus thalidomide and dexamethasone, followed by autologous stem cell transplant consolidation. Patient 2 (Caucasian man) showed an M-spike by protein electrophoresis (300 mg/L, 4.9%), with serum immunoglobulin M level of 327 mg/L. His bone marrow biopsy revealed immunoglobulin M-κ multiple myeloma. Computed tomography showed many enlarged lymph nodes and splenomegaly. Patient 2's clinical features were suggestive of Waldenström macroglobulinemia, in contrast to the bone marrow biopsy results. The result of testing for the MYD88 L265P mutation was positive. Patient 2 was diagnosed with Waldenström macroglobulinemia and received rituximab, cyclophosphamide, and dexamethasone.
Sequencing cell-free DNA in plasma of pregnant women is a noninvasive prenatal screening test (NIPT) for fetal abnormalities. However, cf-DNA could derive from fetus, placenta, or mother and could disclose maternal malignancy. We report two pregnant women, who showed unusual abnormalities at NIPT leading to a Hodgkin lymphoma (HL) diagnosis. Sequencing cell-free DNA (cf-DNA) circulating in plasma of pregnant women is a noninvasive prenatal screening test (NIPT) for fetal chromosome abnormalities. 1 However, cf-DNA could derive from both fetus, placenta, and maternal bone marrow or apoptotic cells. 1,2 Since the first use of this screening method, some cases of "false-positive" results were shown: NIPT reported aneuploidy, but the analysis of fetal karyotype was normal. Placental mosaicism was considered a possible explanation, while maternal malignancies were not initially considered, since their rarity (estimated 1/1000 pregnant women 3,4). However, cases of neoplastic diseases were reported during pregnancy: The most common are Hodgkin and non-Hodgkin's lymphomas, leukemias, melanoma, breast, ovarian, cervical, and colon rectal cancers. 5,6 Noninvasive prenatal screening test was widely used first to undercover trisomy of chromosome 13, 18, and 21, then also for a genome-wide detection of fetal aneuploidies. On the same basis, the analysis of cf-DNA has been investigated for diagnosis, monitoring of response, follow-up, and emerging of resistance in many tumors, such as Hodgkin and Non-Hodgkin's lymphomas. 7 We reported the cases of two pregnant women who showed unusual abnormal findings at NIPT leading to a diagnosis of Hodgkin lymphoma (HL).
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