Acquisition of genomic events leading to lymphoblastic transformation in a rare case of myeloproliferative neoplasm withBCR-JAK2fusion transcript

2016 ◽  
Vol 97 (4) ◽  
pp. 399-402 ◽  
Author(s):  
Nicolas Duployez ◽  
Olivier Nibourel ◽  
Benoît Ducourneau ◽  
Nathalie Grardel ◽  
Thomas Boyer ◽  
...  
Keyword(s):  
Rare Case ◽  
Myeloproliferative Neoplasm ◽  
Lymphoblastic Transformation

Myelodysplastic Syndrome/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis with Cooccurrent SF3B1 and MPL Gene Mutations: A Case Report and Brief Review of the Literature

2019 ◽  
Vol 51 (3) ◽  
pp. 315-319
Author(s):  
Chang-Hun Park ◽  
Jae Won Yun ◽  
Hyun-Young Kim ◽  
Ki-O Lee ◽  
Sun-Hee Kim ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Rare Case ◽  
Macrocytic Anemia ◽  
Myeloproliferative Neoplasm ◽  
Gene Mutations ◽  
Jak2 V617f ◽  
Molecular Study ◽  
Recurrent Mutations ◽  
Ring Sideroblasts ◽  
Gene Exon

Abstract Background Myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) is a new disease entity in the current WHO classification. Genetically, 60%–90% of cases have mutations in SF3B1, strongly associated with RS, and more than half of them cooccur with JAK2 V617F. This report describes the rare case of MDS/MPN-RS-T with SF3B1 mutation cooccurring with an MPL mutation. Methods We report a 79-year-old man who was referred because of generalized edema. Peripheral blood testing showed macrocytic anemia and thrombocytosis, and bone marrow analysis demonstrated dyserythropoiesis with RS and increased megakaryocytes. A molecular study was performed to detect SF3B1 mutations and recurrent mutations in MPN disease (JAK2 V617F/exon 12, CALR gene exon 9, and MPL gene exon 10 mutations). Results The molecular study revealed SF3B1 K666T and MPL W515R mutations, while BCR-ABL1 or JAK2 V617F/exon 12 and CALR mutations were all negative. Conclusion This is a rare case of concomitant SF3B1 and MPL mutations in MDS/MPN-RS-T.

scholarly journals An Unusual Cause of Bleeding in a Patient with Chronic Myeloid Leukemia Chronic Phase

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
S. Kartthik ◽  
Prakas K. Mandal ◽  
Saleh Mohammed Abdullah
Keyword(s):  
Myeloid Leukemia ◽  
Rare Case ◽  
Fusion Gene ◽  
Myeloproliferative Neoplasm ◽  
Chronic Phase ◽  
Myelogenous Leukemia ◽  
Bleeding Diathesis ◽  
Platelet Dysfunction ◽  
Prompt Treatment ◽  
Normal Differentiation

Chronic myelogenous leukemia (CML) is a clonal myeloproliferative neoplasm (MPN) characterized by dysregulated and uncontrolled proliferation of mature and maturing granulocytes with normal differentiation. A genetic hallmark of CML is the presence of the fusion gene product BCR-ABL. Bleeding diathesis in CML patients is rare (<10%) and primarily caused by acquired platelet dysfunction. We report a rare case of an adult CML chronic phase patient who presented with spontaneous muscle hematoma due to acquired Glanzmann’s thrombasthenia (GT). On laboratory workup, a GT was confirmed along with the diagnosis of CML in chronic phase. The muscle hematoma was completely resolved following imatinib therapy. The present case demonstrates that bleeding is a complication of MPNs and highlights the importance of both acquired GT diagnosis to determine the cause of bleeding in CML and of prompt treatment with imatinib to reverse this condition.

Electron Microscopic identification of Pre-B Lymphocytes in the Bone Marrow of a Patient with Chronic Myelocytic Leukemic in Blast Crisis

1982 ◽  
Vol 40 ◽  
pp. 346-347
Author(s):  
T. Mullin ◽  
G. Yee ◽  
M. Aheam ◽  
J. Trujillo
Keyword(s):  
Blast Crisis ◽  
Immunoglobulin M ◽  
Terminal Deoxynucleotidyl Transferase ◽  
Transformation Theory ◽  
Electron Microscopic ◽  
Chemotherapeutic Sensitivity ◽  
Microscopic Studies ◽  
Hematopoietic Precursor ◽  
Lymphoblastic Transformation ◽  
B Lineage

There have been numerous reports in the current literature suggesting that hematopoietic precursor cells in some human chronic myelocytic leukemias (CML) undergo lymphoblastic transformation at the time of the acute blast crisis (BC) stage. The primary evidence offered in support of this transformation theory--lymphoblastic appearing morphology, increased terminal deoxynucleotidyl transferase (TdT) activity, and chemotherapeutic sensitivity to vincristine and prednisone--has been indirect, however, since these features may occur in nonlymphoid cells. More direct support for the Pre-B lineage of these cells has recently been provided by immunofluorescent light microscopic studies demonstrating the presence of intracytoplasmic immunoglobulin M (IgM) in these CML-BC cells.

Identification of Pulmonary Deposits from a Sandpaper Worker: A Study by Electron Microscopy and X-Ray Microanalysis

1982 ◽  
Vol 40 ◽  
pp. 52-53
Author(s):  
S. K. Peng ◽  
M.A. Egy ◽  
J. K. Singh ◽  
M.B. Bishop
Keyword(s):  
Electron Microscopy ◽  
Environmental Pollution ◽  
Rare Case ◽  
Interstitial Fibrosis ◽  
X Ray ◽  
Documented Case ◽  
Etiologic Agents ◽  
Pulmonary Interstitial Fibrosis ◽  
Gold Miners ◽  
Pulmonary Changes

Electron microscopy and energy dispersive x-ray microanalysis (EDXA) are found to be very useful tools for identification of etiologic agents in pneumoconiosis or interstitial pulmonary disorders. Pulmonary interstitial fibrosis and granulomatosis are frequently associated with occupational and environmental pollution. Numerous reports of pneumoconiosis in various occupations such as coal and gold miners are presented in the literature. However, there is no known documented case of pulmonary changes in workers in the sandpaper industry. This study reports a rare case of pulmonary granulomatosis containing deposits from abrasives of sandpaper diagnosed by using EDXA.

Abstract #736: A Rare Case of an Ectopic Parathyroid Adenoma Mimicking a Parathyroid Carcinoma

2015 ◽  
Vol 21 ◽  
pp. 143
Author(s):  
Elizabeth Sanchez Rangel ◽  
Maria Moscoso Cordero ◽  
Vinuta Mohan ◽  
Tasneem Zahra
Keyword(s):  
Parathyroid Adenoma ◽  
Parathyroid Carcinoma ◽  
Rare Case ◽  
Ectopic Parathyroid Adenoma ◽  
Ectopic Parathyroid

Abstract #110: Hemorrhagic Subdiaphragmatic Bronchogenic Cyst Mimicking an Adrenal Tumor: a Rare Case

2015 ◽  
Vol 21 ◽  
pp. 6
Author(s):  
Roy Guinto ◽  
Michele Ledoux ◽  
Alicia Williams ◽  
Anthony Mark
Keyword(s):  
Rare Case ◽  
Adrenal Tumor ◽  
Bronchogenic Cyst
Sign in / Sign up

Export Citation Format

Share Document