Pub Date : 2019-11-01DOI: 10.1097/pcr.0000000000000346
M. Kallen, Z. Singh
{"title":"Myeloid Neoplasia and Other Leukemias","authors":"M. Kallen, Z. Singh","doi":"10.1097/pcr.0000000000000346","DOIUrl":"https://doi.org/10.1097/pcr.0000000000000346","url":null,"abstract":"","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83406015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-11-01DOI: 10.1097/PCR.0000000000000342
M. Sukhanova, Charles Van Slambrouck, K. Yap, Sonali M. Smith, S. Gurbuxani, G. Venkataraman
Double-hit and double-expressor phenotypes in lymphomas are characterized by activation of the expression of the MYC and BCL2 genes through diverse mechanisms including chromosomal translocations and amplifications. Herein, we report a high-grade B-cell lymphoma in a patient with evidence for a chromothripsis event (via chromosomal microarray methodology) at chromosome 8, resulting in a focal copy number gain of theMYC locus, not detected by conventional fluorescence in situ hybridization for MYC despite strong MYC expression by immunohistochemical analysis. Chromosome analysis from the biopsy was not successful because of an extensive tissue necrosis. Chromothripsis is suggested as another mechanism for the activation of MYC in non-Hodgkin lymphoma, resulting in aggressive disease course, and this case underscores the need for chromosomal microarray testing in select cases to identify aggressive biology.
{"title":"MYC Alteration by Chromothripsis Event in Aggressive High-Grade B-Cell Lymphoma Negative by Conventional Fluorescence In Situ Hybridization Analysis: A Case Report","authors":"M. Sukhanova, Charles Van Slambrouck, K. Yap, Sonali M. Smith, S. Gurbuxani, G. Venkataraman","doi":"10.1097/PCR.0000000000000342","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000342","url":null,"abstract":"Double-hit and double-expressor phenotypes in lymphomas are characterized by activation of the expression of the MYC and BCL2 genes through diverse mechanisms including chromosomal translocations and amplifications. Herein, we report a high-grade B-cell lymphoma in a patient with evidence for a chromothripsis event (via chromosomal microarray methodology) at chromosome 8, resulting in a focal copy number gain of theMYC locus, not detected by conventional fluorescence in situ hybridization for MYC despite strong MYC expression by immunohistochemical analysis. Chromosome analysis from the biopsy was not successful because of an extensive tissue necrosis. Chromothripsis is suggested as another mechanism for the activation of MYC in non-Hodgkin lymphoma, resulting in aggressive disease course, and this case underscores the need for chromosomal microarray testing in select cases to identify aggressive biology.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85391808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-11-01DOI: 10.1097/PCR.0000000000000338
Ying Liu, Elham Vali-Betts, N. Ku
Hairy cell leukemia (HCL) is a rare indolent B-cell neoplasmwith distinct morphologic and immunophenotypic features. Immunophenotypically, the neoplastic cells in HCL are strongly positive for B-cell markers, such as CD19, CD20, and CD22. They also characteristically express CD11c, CD25, CD103, and CD123, but lack CD5, CD10, and CD23. Uncommon immunophenotypes of HCL can pose diagnostic challenges. Here, we report 2 unusual cases of CD5-positive and CD10-positive HCL.
{"title":"Unusual Cases of Hairy Cell Leukemia With Uncommon Immunophenotypes: A Diagnostic Challenge","authors":"Ying Liu, Elham Vali-Betts, N. Ku","doi":"10.1097/PCR.0000000000000338","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000338","url":null,"abstract":"Hairy cell leukemia (HCL) is a rare indolent B-cell neoplasmwith distinct morphologic and immunophenotypic features. Immunophenotypically, the neoplastic cells in HCL are strongly positive for B-cell markers, such as CD19, CD20, and CD22. They also characteristically express CD11c, CD25, CD103, and CD123, but lack CD5, CD10, and CD23. Uncommon immunophenotypes of HCL can pose diagnostic challenges. Here, we report 2 unusual cases of CD5-positive and CD10-positive HCL.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88531182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-11-01DOI: 10.1097/PCR.0000000000000339
Ruijun Su, J. Said, M. Kallen, Chayanit Jumniensuk, S. Pullarkat
Granulomatous slack skin is an extremely rare cutaneous T-cell lymphoma, which often pursues an indolent disease course. Clinically, it is characterized by areas of redundant and lax skin in flexural areas, with variable erythema. Histologic findings include granulomatous T-cell infiltrates with loss of elastic fibers and poikilodermic change. In this article, we report a patient with unusual rapidly progressive ulcerative and gangrenous skin lesions, leading to amputation and ultimately demise. We also review the literature on granulomatous slack skin with similarly aggressive clinical course and discuss the differential diagnosis.
{"title":"Granulomatous Slack Skin T-Cell Lymphoma Manifesting as Ulcerative and Gangrenous Lesions With a Fatal Outcome: A Case Report and Review of the Literature","authors":"Ruijun Su, J. Said, M. Kallen, Chayanit Jumniensuk, S. Pullarkat","doi":"10.1097/PCR.0000000000000339","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000339","url":null,"abstract":"Granulomatous slack skin is an extremely rare cutaneous T-cell lymphoma, which often pursues an indolent disease course. Clinically, it is characterized by areas of redundant and lax skin in flexural areas, with variable erythema. Histologic findings include granulomatous T-cell infiltrates with loss of elastic fibers and poikilodermic change. In this article, we report a patient with unusual rapidly progressive ulcerative and gangrenous skin lesions, leading to amputation and ultimately demise. We also review the literature on granulomatous slack skin with similarly aggressive clinical course and discuss the differential diagnosis.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90937538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-11-01DOI: 10.1097/PCR.0000000000000337
Liurka V Lopez, Daniel F Marker, N. Bailey, Yen‐Chun Liu, Richard L. Mcgough, A. Singhi, I. John
Fibroblastic reticular cell tumor (FRCT) is an exceedingly rare tumor that is histologically reminiscent of follicular dendritic cell sarcoma or interdigitating dendritic cell sarcoma but lacks the immunophenotypic features of these tumors. This tumor is classically described in lymph nodes and spleen, with only 4 cases described in soft tissues. We report a case of FRCT presenting as a right thigh mass in a 67-year-old woman with no prior malignancies. Gross examination showed a 10.6-cm tan well-circumscribed intramuscular mass. Microscopic examination revealed a discohesive population of cells with indistinct pale cytoplasm and large irregular, atypical vesicular nuclei with variably prominent nucleoli in a collagenous background infiltrated by lymphocytes. The tumor cells were positive for smooth muscle actin, cytokeratins (in a dendritic pattern), and CD163, while negative for CD21, CD35, and CD23, supporting the diagnosis of FRCT. Whole-exome sequencing revealed 631 putative somatic mutations in the tumor (>10 mutations/Mb of sequence). Mutational signature analysis suggested DNA mismatch repair deficiency. Germline mutational analysis revealed a heterozygous pathogenic missense mutation of MLH1 (c.2246 T > C, p. Leu749Pro). Subsequent immunohistochemical analysis showed complete loss of MLH1 and PMS2 in tumor cells. To our knowledge, this is the first case of FRCT characterized by sequencing studies and found to be associated with Lynch syndrome (LS), expanding the spectrum of LS-associated neoplasms. This case demonstrates genetic hypermutation similar to that seen in the more common epithelial lesions arising in LS, and it highlights the potential for high-throughput genetic analysis to identify mismatch repair–deficient tumors of atypical histologies, which may have significant clinical implications in the era of immunotherapy.
纤维母细胞网状细胞瘤(FRCT)是一种非常罕见的肿瘤，在组织学上与滤泡树突状细胞肉瘤或交叉指状树突状细胞肉瘤相似，但缺乏这些肿瘤的免疫表型特征。这种肿瘤通常发生在淋巴结和脾脏，只有4例发生在软组织。我们报告一例FRCT表现为右大腿肿块在一个67岁的妇女以前没有恶性肿瘤。大体检查显示一个10.6厘米的棕褐色、边界清楚的肌肉内肿块。镜检显示细胞群不粘连，胞浆不清晰，胞核不规则，不典型，核仁不同程度地突出，胶原背景被淋巴细胞浸润。肿瘤细胞中平滑肌肌动蛋白、细胞角蛋白(呈树突状)和CD163呈阳性，而CD21、CD35和CD23呈阴性，支持FRCT的诊断。全外显子组测序显示肿瘤中存在631个体细胞突变(>10个突变/Mb序列)。突变特征分析提示DNA错配修复缺陷。种系突变分析显示MLH1 (c.2246)存在杂合致病性错义突变T > C, p. [1];随后的免疫组化分析显示肿瘤细胞中MLH1和PMS2完全缺失。据我们所知，这是第一例以测序研究为特征的FRCT病例，并发现与Lynch综合征(LS)相关，扩大了LS相关肿瘤的范围。该病例显示了与LS中更常见的上皮病变相似的基因高突变，它突出了高通量遗传分析识别非典型组织学错配修复缺陷肿瘤的潜力，这可能在免疫治疗时代具有重要的临床意义。
{"title":"Soft Tissue Fibroblastic Reticular Cell Tumor With Whole-Exome Sequencing Findings: An Unexpected Presentation of Lynch Syndrome","authors":"Liurka V Lopez, Daniel F Marker, N. Bailey, Yen‐Chun Liu, Richard L. Mcgough, A. Singhi, I. John","doi":"10.1097/PCR.0000000000000337","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000337","url":null,"abstract":"Fibroblastic reticular cell tumor (FRCT) is an exceedingly rare tumor that is histologically reminiscent of follicular dendritic cell sarcoma or interdigitating dendritic cell sarcoma but lacks the immunophenotypic features of these tumors. This tumor is classically described in lymph nodes and spleen, with only 4 cases described in soft tissues. We report a case of FRCT presenting as a right thigh mass in a 67-year-old woman with no prior malignancies. Gross examination showed a 10.6-cm tan well-circumscribed intramuscular mass. Microscopic examination revealed a discohesive population of cells with indistinct pale cytoplasm and large irregular, atypical vesicular nuclei with variably prominent nucleoli in a collagenous background infiltrated by lymphocytes. The tumor cells were positive for smooth muscle actin, cytokeratins (in a dendritic pattern), and CD163, while negative for CD21, CD35, and CD23, supporting the diagnosis of FRCT. Whole-exome sequencing revealed 631 putative somatic mutations in the tumor (>10 mutations/Mb of sequence). Mutational signature analysis suggested DNA mismatch repair deficiency. Germline mutational analysis revealed a heterozygous pathogenic missense mutation of MLH1 (c.2246 T > C, p. Leu749Pro). Subsequent immunohistochemical analysis showed complete loss of MLH1 and PMS2 in tumor cells. To our knowledge, this is the first case of FRCT characterized by sequencing studies and found to be associated with Lynch syndrome (LS), expanding the spectrum of LS-associated neoplasms. This case demonstrates genetic hypermutation similar to that seen in the more common epithelial lesions arising in LS, and it highlights the potential for high-throughput genetic analysis to identify mismatch repair–deficient tumors of atypical histologies, which may have significant clinical implications in the era of immunotherapy.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74712474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-11-01DOI: 10.1097/PCR.0000000000000343
C. R. Barron, G. Crane
A 45-year-old woman with Usher syndrome, associated congenital deafness, progressive blindness due to retinitis pigmentosa, and latent autoimmune diabetes presented to the emergency department with malaise, dizziness, and pelvic pain following removal of an intrauterine device. A posterior vaginal wall mass was found on examination. Laboratory values demonstrated anemia, thrombocytopenia, and an elevated white blood cell count, raising concern for infection and potential onset of diabetic ketoacidosis. This prompted a peripheral blood smear review, which showed 60% monocytic blasts. A subsequent vaginal mass biopsy showed a myeloid sarcoma. Molecular studies demonstrated an NPM1mutation in exon 12 without FLT3mutation or internal tandem duplication.While a diagnosis of acute myeloid leukemia with mutated NPM1 was considered, cytogenetics revealed a complex karyotype with evidence of clonal evolution, consistent with acute myeloid leukemia with myelodysplasia-related changes. In addition to an unusual presentation of myeloid sarcoma, this case posed significant questions regarding management and pursuit of hematopoietic stem cell transplantation. Usher syndrome is genetically and clinically heterogeneous. While it is not known to be associated with increased risk of malignancy, mutation of genes associated with Usher syndrome has been identified in acute leukemia. Our case raises the question as to whether potential germline predisposition should be considered in a patient with a previously unassociated congenital syndrome.
{"title":"Unusual Presentation of Myeloid Sarcoma in a Patient With Usher Syndrome","authors":"C. R. Barron, G. Crane","doi":"10.1097/PCR.0000000000000343","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000343","url":null,"abstract":"A 45-year-old woman with Usher syndrome, associated congenital deafness, progressive blindness due to retinitis pigmentosa, and latent autoimmune diabetes presented to the emergency department with malaise, dizziness, and pelvic pain following removal of an intrauterine device. A posterior vaginal wall mass was found on examination. Laboratory values demonstrated anemia, thrombocytopenia, and an elevated white blood cell count, raising concern for infection and potential onset of diabetic ketoacidosis. This prompted a peripheral blood smear review, which showed 60% monocytic blasts. A subsequent vaginal mass biopsy showed a myeloid sarcoma. Molecular studies demonstrated an NPM1mutation in exon 12 without FLT3mutation or internal tandem duplication.While a diagnosis of acute myeloid leukemia with mutated NPM1 was considered, cytogenetics revealed a complex karyotype with evidence of clonal evolution, consistent with acute myeloid leukemia with myelodysplasia-related changes. In addition to an unusual presentation of myeloid sarcoma, this case posed significant questions regarding management and pursuit of hematopoietic stem cell transplantation. Usher syndrome is genetically and clinically heterogeneous. While it is not known to be associated with increased risk of malignancy, mutation of genes associated with Usher syndrome has been identified in acute leukemia. Our case raises the question as to whether potential germline predisposition should be considered in a patient with a previously unassociated congenital syndrome.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80773366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-11-01DOI: 10.1097/PCR.0000000000000340
Khaled A. Murshed, A. Fadul, M. Yassin, F. Hilmi, A. Elsayed, I. Al-Bozom
FIGURE 1. PET/CT scan 1 hour after the IV administration of 304 MBq of 18F-FDG showed an irregular, infiltrative mediastinal soft tissue mass centered on the anterior mediastinum with extensions to the presternal subcutaneous region and towards the diaphragmatic crura along the dorsal aspects of the pleura with FDG-avid bilateral anterior costophrenic mediastinal lymph nodes. Abstract: Hairy cell leukemia (HCL) is an uncommon chronic lymphoproliferative disorder. Initial presentation frequently includes symptoms related to peripheral blood cytopenias. It can sometimes have atypical manifestations and can present at unusual sites. We report an unusual presentation of HCL as a presternal soft tissue mass in a 45-year-old man. His peripheral blood counts showed pancytopenia. There were no palpable lymph nodes or hepatosplenomegaly. CT-scan revealed a middle mediastinal mass with extension into the presternal soft tissue. Tissue core biopsy was taken and histopathologic findings confirmed the diagnosis of HCL. To our knowledge, this is the second reported case of HCL presenting as a presternal soft tissue mass. Although rare, HCL should be considered in the differential diagnosis of tumors involving extramedullary/extranodal sites including the soft tissue and bone, so the patient can get the utmost benefit for early diagnosis of a treatment responsive disease.
{"title":"Hairy Cell Leukemia Presenting as Presternal Soft Tissue Mass: A Case Report With Review of Literature","authors":"Khaled A. Murshed, A. Fadul, M. Yassin, F. Hilmi, A. Elsayed, I. Al-Bozom","doi":"10.1097/PCR.0000000000000340","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000340","url":null,"abstract":"FIGURE 1. PET/CT scan 1 hour after the IV administration of 304 MBq of 18F-FDG showed an irregular, infiltrative mediastinal soft tissue mass centered on the anterior mediastinum with extensions to the presternal subcutaneous region and towards the diaphragmatic crura along the dorsal aspects of the pleura with FDG-avid bilateral anterior costophrenic mediastinal lymph nodes. Abstract: Hairy cell leukemia (HCL) is an uncommon chronic lymphoproliferative disorder. Initial presentation frequently includes symptoms related to peripheral blood cytopenias. It can sometimes have atypical manifestations and can present at unusual sites. We report an unusual presentation of HCL as a presternal soft tissue mass in a 45-year-old man. His peripheral blood counts showed pancytopenia. There were no palpable lymph nodes or hepatosplenomegaly. CT-scan revealed a middle mediastinal mass with extension into the presternal soft tissue. Tissue core biopsy was taken and histopathologic findings confirmed the diagnosis of HCL. To our knowledge, this is the second reported case of HCL presenting as a presternal soft tissue mass. Although rare, HCL should be considered in the differential diagnosis of tumors involving extramedullary/extranodal sites including the soft tissue and bone, so the patient can get the utmost benefit for early diagnosis of a treatment responsive disease.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72571247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-11-01DOI: 10.1097/PCR.0000000000000345
M. Nageshwar, V. Duong, R. Koka, Z. Singh, M. Kallen
Myeloid neoplasms with germline predisposition are an increasingly recognized category within the World Health Organization classification. Detection requires a high degree of suspicion, with mounting awareness of clinically silent phenotypes and heterogeneous presentations, challenging diagnostic and laboratory testing considerations, need for surveillance of disease progression, and unique concerns in donor selection for stem cell transplantation. We describe the case of a patient who presented as a teenager with thrombocytopenia and was later diagnosed with chronic myelomonocytic leukemia, with eventual transformation to acute myeloid leukemia, which has relapsed after stem cell transplantation. She was found to have short telomeres and a TERTmutation, in addition to numerous features suggestive of a germline predisposition syndrome. These findings have not been specifically associated with chronic myelomonocytic leukemia and raise interesting questions about the associations between myelodysplastic/myeloproliferative neoplasms, telomere biology disorders, and the roles of specific myeloid mutations as drivers of disease.
{"title":"Chronic Myelomonocytic Leukemia in a Patient With a Germline Predisposition and Short Telomeres","authors":"M. Nageshwar, V. Duong, R. Koka, Z. Singh, M. Kallen","doi":"10.1097/PCR.0000000000000345","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000345","url":null,"abstract":"Myeloid neoplasms with germline predisposition are an increasingly recognized category within the World Health Organization classification. Detection requires a high degree of suspicion, with mounting awareness of clinically silent phenotypes and heterogeneous presentations, challenging diagnostic and laboratory testing considerations, need for surveillance of disease progression, and unique concerns in donor selection for stem cell transplantation. We describe the case of a patient who presented as a teenager with thrombocytopenia and was later diagnosed with chronic myelomonocytic leukemia, with eventual transformation to acute myeloid leukemia, which has relapsed after stem cell transplantation. She was found to have short telomeres and a TERTmutation, in addition to numerous features suggestive of a germline predisposition syndrome. These findings have not been specifically associated with chronic myelomonocytic leukemia and raise interesting questions about the associations between myelodysplastic/myeloproliferative neoplasms, telomere biology disorders, and the roles of specific myeloid mutations as drivers of disease.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72590053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-11-01DOI: 10.1097/PCR.0000000000000344
Jamie Hittman, M. Nageshwar, V. Duong, Seung Tae Lee, R. Koka, Z. Singh, M. Kallen
Myelodysplastic/myeloproliferative neoplasm (MPN), unclassifiable (MDS/MPN-U), has clinical and morphologic features of both myelodysplastic syndrome (MDS) and myeloproliferative neoplasms (MPNs), and does not meet diagnostic criteria for any other specific entity within MDS, MPN, or MPN, including therapy-related myeloid neoplasms, and cases evolving from a prior MDS or MPN. Diagnostic criteria for MDS/MPN-U include, among other specifications, a platelet count of greater than or equal to 450 10E9/L associatedwith bonemarrowmegakaryocytic proliferation. We present the case of a young adult patient with a several-year reported history of cytopenias, found to have thrombocytosis and 5% circulating blasts. Surprisingly, his bone marrow biopsy demonstrated hypocellularity (10%), with 5% to 10% blasts, myeloid hypoplasia, minimal fibrosis, and focal megakaryocytic dyspoiesis but no hyperplasia. The constellation of morphologic and clinical features presents a challenging differential diagnosis between MDS/MPN-U and MDS with excess blasts (as well as thrombocytosis). Molecular testing interestingly demonstrated an SF3B1mutation, although no increased ring sideroblasts were found by iron staining. Cases such as these may prove instructive in refining our understanding of the MDS/MPN category, as well as its relationship to myelodysplasia and the complex molecular genetic landscape underlying myeloid neoplasia.
{"title":"Unclassifiable Myelodysplastic/Myeloproliferative Neoplasm With Hypocellularity: A Classification Conundrum","authors":"Jamie Hittman, M. Nageshwar, V. Duong, Seung Tae Lee, R. Koka, Z. Singh, M. Kallen","doi":"10.1097/PCR.0000000000000344","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000344","url":null,"abstract":"Myelodysplastic/myeloproliferative neoplasm (MPN), unclassifiable (MDS/MPN-U), has clinical and morphologic features of both myelodysplastic syndrome (MDS) and myeloproliferative neoplasms (MPNs), and does not meet diagnostic criteria for any other specific entity within MDS, MPN, or MPN, including therapy-related myeloid neoplasms, and cases evolving from a prior MDS or MPN. Diagnostic criteria for MDS/MPN-U include, among other specifications, a platelet count of greater than or equal to 450 10E9/L associatedwith bonemarrowmegakaryocytic proliferation. We present the case of a young adult patient with a several-year reported history of cytopenias, found to have thrombocytosis and 5% circulating blasts. Surprisingly, his bone marrow biopsy demonstrated hypocellularity (10%), with 5% to 10% blasts, myeloid hypoplasia, minimal fibrosis, and focal megakaryocytic dyspoiesis but no hyperplasia. The constellation of morphologic and clinical features presents a challenging differential diagnosis between MDS/MPN-U and MDS with excess blasts (as well as thrombocytosis). Molecular testing interestingly demonstrated an SF3B1mutation, although no increased ring sideroblasts were found by iron staining. Cases such as these may prove instructive in refining our understanding of the MDS/MPN category, as well as its relationship to myelodysplasia and the complex molecular genetic landscape underlying myeloid neoplasia.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76769163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-11-01DOI: 10.1097/PCR.0000000000000341
M. Kroloff, G. Crane, R. Press, Stephen Lee, Sarah M. Larson, Rena R. Xian
The era of next-generation sequencing (NGS) has led to a deeper understanding of the genetic complexity and heterogeneity of this disease, in addition to revealing mechanisms of disease relapse. Clinical NGS is becoming routine in clinical practice in both solid organ and hematologic malignancies to identify molecular markers of disease that might assist with diagnosis, prognosis, and the treatment of cancer. These tumor-specific markers also enable treatment response monitoring, as they serve as clonal markers unique to the disease. Continuous molecular monitoring also allows identification of disease recurrence with potentially new actionable mutations. This practice is complicated in the setting of allogeneic bone marrow transplant, as the admixtures of donor and recipient DNA pose unique challenges to NGS interpretation. This case highlights the importance of systematic methodological interpretation of NGS results to better understand the clinical significance and impact of new mutations discovered posttransplant and reveals another potential application of NGS for bone marrow engraftment analysis.
{"title":"Next-Generation Sequencing Analysis in Posttransplant Relapsed Acute Myeloid Leukemia Reveals Clonal Evolution and Donor-Derived Germline Variant Indicating Bone Marrow Chimerism","authors":"M. Kroloff, G. Crane, R. Press, Stephen Lee, Sarah M. Larson, Rena R. Xian","doi":"10.1097/PCR.0000000000000341","DOIUrl":"https://doi.org/10.1097/PCR.0000000000000341","url":null,"abstract":"The era of next-generation sequencing (NGS) has led to a deeper understanding of the genetic complexity and heterogeneity of this disease, in addition to revealing mechanisms of disease relapse. Clinical NGS is becoming routine in clinical practice in both solid organ and hematologic malignancies to identify molecular markers of disease that might assist with diagnosis, prognosis, and the treatment of cancer. These tumor-specific markers also enable treatment response monitoring, as they serve as clonal markers unique to the disease. Continuous molecular monitoring also allows identification of disease recurrence with potentially new actionable mutations. This practice is complicated in the setting of allogeneic bone marrow transplant, as the admixtures of donor and recipient DNA pose unique challenges to NGS interpretation. This case highlights the importance of systematic methodological interpretation of NGS results to better understand the clinical significance and impact of new mutations discovered posttransplant and reveals another potential application of NGS for bone marrow engraftment analysis.","PeriodicalId":43475,"journal":{"name":"AJSP-Reviews and Reports","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75954783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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