scholarly journals A Case of Acute Myeloid Leukemia (FAB M2) with Inversion 16 Who Presented with Pelvic Myeloid Sarcoma

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Mustafa Çakan ◽  
Ahmet Koç ◽  
Kıvılcım Cerit ◽  
Süheyla Bozkurt ◽  
Rabia Ergelen ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
Abdominal Mass ◽  
Age Groups ◽  
Bone Marrow Examination ◽  
Myeloid Sarcoma ◽  
Initial Symptom ◽  
Acute Leukemias ◽  
Presenting Symptoms ◽  
Pathological Sign ◽  
Acute Myeloid

Acute leukemias are the most common childhood cancer in all age groups. Acute myeloid leukemias (AML) constitute about 15–20% of acute leukemias. Fatigability, pallor, fever, and bleeding are the most common presenting symptoms of AML. Hepatosplenomegaly and lymphadenopathy are commonly encountered during physical examination. In rare instances eruptions due to skin involvement and localized tumor masses (myeloid sarcoma) may be found. Myeloid sarcoma is especially seen in AML-M2 subtype. By cytogenetic analysis, in AML-M2 subtype t(8;21) is often seen and it is more probable to find inversion 16 in AML-M4Eos subtype. Herein, we present a 15-year-old girl whose initial symptom was abdominal pain for three days and her pathological sign was a large abdominal mass which was verified by imaging studies and diagnosed as myeloid sarcoma by biopsy. On bone marrow examination, she had diagnosis of AML-M2 and by cytogenetic analysis inversion 16 was positive. She was treated with AML-BFM 2004 protocol and she is being followed up in remission on her ninth month of the maintenance therapy.

scholarly journals Immunotherapy- (Blinatumomab-) Related Lineage Switch of KMT2A/AFF1 Rearranged B-Lymphoblastic Leukemia into Acute Myeloid Leukemia/Myeloid Sarcoma and Subsequently into B/Myeloid Mixed Phenotype Acute Leukemia

2019 ◽  
Vol 2019 ◽  
pp. 1-4 ◽  
Author(s):  
Rui R. He ◽  
Zacharia Nayer ◽  
Matthew Hogan ◽  
Raymund S. Cuevo ◽  
Kimberly Woodward ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Lymphoblastic Leukemia ◽  
Bone Marrow Involvement ◽  
Bone Marrow Examination ◽  
Myeloid Sarcoma ◽  
Poor Prognostic Factor ◽  
Lineage Switch ◽  
Acute Myeloid

The presence of KMT2A/AFF1 rearrangement in B-lymphoblastic leukemia (B-ALL) is an independent poor prognostic factor and has been associated with higher rate of treatment failure and higher risk of linage switch under therapy. Blinatumomab has shown promising therapeutic results in refractory or relapsed B-ALL; however, it has potential risk of inducing lineage switch, especially in KMT2A/AFF1 rearranged B-ALL into acute myeloid leukemia and/or myeloid sarcoma. We report a 40-year-old female with KMT2A/AFF1-rearranged B-ALL that was refractory to conventional chemotherapy. Following administration of blinatumomab, she developed a breast mass proven to be myeloid sarcoma, in addition to bone marrow involvement by AML. Approximately six weeks after cessation of blinatumomab, a repeat bone marrow examination revealed B/myeloid MPAL.

scholarly journals Granulocytic/myeloid sarcoma with trisomy 21 presented as an epididymal tumor: A case report and review of the literature

2020 ◽  
Vol 8 ◽  
pp. 2050313X2091922
Author(s):  
Masaki Murata ◽  
Kohei Inui ◽  
Oki Nagano ◽  
Go Hasegawa ◽  
Yohei Ikeda ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Cytogenetic Analysis ◽  
Trisomy 21 ◽  
Bone Marrow Aspiration ◽  
Normal Karyotype ◽  
Bone Marrow Examination ◽  
Myeloid Sarcoma ◽  
Extramedullary Tumor ◽  
Immature Myeloid Cells ◽  
The Right

Myeloid sarcoma is an extramedullary tumor composed of immature myeloid cells and occurs in various extramedullary sites. We report a 48-year-old man diagnosed with myeloid sarcoma in the epididymis. He was admitted to our hospital due to a painless right intrascrotal mass. Magnetic resonance imaging showed a 30 mm tumor in the right epididymis, and we subsequently performed right high orchiectomy. The pathological diagnosis was myeloid sarcoma. Bone marrow aspiration and biopsy revealed no hematological disease, and cytogenetic analysis in the bone marrow showed normal karyotype. He was diagnosed with isolated myeloid sarcoma in the epididymis. Six months after the operation, myeloid sarcoma recurred in the para aorta and left sub-diaphragm. Bone marrow examination revealed myelodysplastic syndrome, and cytogenetic analysis showed 46, XY. We performed surgical resection of the recurrent mass, and cytogenetic analysis showed 47, XY, +21. He was diagnosed with recurrent MS with adult-onset trisomy 21. Although the effect of trisomy 21 on prognosis is unknown, the patient is currently undergoing systemic chemotherapy with maintained remission.

scholarly journals Primary Myeloid Sarcoma of the Prostate: A Case Report and Literature Review

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Ryan Nguyen ◽  
Hamid Sayar
Keyword(s):  
Myeloid Leukemia ◽  
Bone Marrow Examination ◽  
Myeloid Sarcoma ◽  
Remission Induction ◽  
Prior History ◽  
Conventional Chemotherapy ◽  
Hematologic Disorders ◽  
History Of ◽  
One Year ◽  
Acute Myeloid

We report the case of a 73-year-old male with primary myeloid sarcoma (MS) of the prostate. He underwent remission-induction chemotherapy followed by conventional consolidation for acute myeloid leukemia (AML). One year after initial diagnosis, he was without evidence of AML, the longest reported period of time in the literature for a case of primary MS of the prostate. From 1985 to 2017, fifteen other cases of MS of the prostate have been reported and are reviewed here. Five cases occurred as primary MS, without evidence of AML on bone marrow examination or prior history of hematologic disorders, and progressed to AML within a range of three weeks to seven months. None of these cases were started on conventional chemotherapy for AML prior to progression. Due to its rarity, primary MS of the prostate is often diagnosed incidentally, but prompt AML-targeted treatment is crucial to delaying the progression to AML.

scholarly journals Therapy-Related Pro-B Cell Acute Lymphoblastic Leukemia: Report of Two Patients with MLL Amplification

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 4911-4911
Author(s):  
Frederick Racke ◽  
Carol Cole ◽  
Nyla A. Heerema
Keyword(s):  
Bone Marrow ◽  
B Cell ◽  
Cytogenetic Analysis ◽  
Topoisomerase Ii ◽  
Bone Marrow Examination ◽  
Hematologic Malignancies ◽  
Fish Analysis ◽  
Dna Topoisomerase Ii ◽  
Acute Leukemias ◽  
Dna Topoisomerase

Abstract Abstract 4911 Recent advances in cancer treatment have led to an ever increasing number of cancer survivors. Unfortunately, a small fraction of these patients develop secondary hematologic malignancies as a consequence of their exposure to genotoxic anti-cancer regimens. Most of these are myeloid malignancies, therapy-related acute myeloid leukemia (t-AML) or myelodysplasia (t-MDS). Current classification schemes separate therapy-related myeloid disorders into two classes, those related to prior exposure to alkylating agents or radiation and those with prior exposure to DNA topoisomerase II inhibitors. The alkylating/radiotherapy group often contain chromosomal abnormalities involving chromosomes 5 and 7. In contrast, those with DNA topoisomerase II inhibitor exposure frequently possess chromosomal translocations involving chromosome 11q23, where the MLL gene locus resides. MLL, or “mixed lineage leukemia”, is also frequently rearranged in lymphoblastic leukemias and mixed phenotype acute leukemias. Interestingly, MLL also can be altered in myeloid disease through partial tandem duplication or amplification of the genomic region encompassing MLL [amp(MLL)]. Amp(MLL) of an unrearranged MLL locus has also been described in therapy-related myeloid disease. Recently, there has been a growing appreciation that therapy-related leukemias are not limited to the myeloid lineage and that therapy-related acute lymphoblastic leukemias (t-ALL) make up a small but significant percentage of therapy-related acute leukemias. Translocations involving the MLL locus have been found in a high percentage of t-ALLs. However, to our knowledge, amp(MLL) has not been reported previously in t-ALL. Herein we report 2 cases of ALL following chemotherapy for other malignancies that showed complex karyotypic abnormalities and distinct MLL amplification by FISH analysis. Patient 1 is an 80 year old male with a past medical history significant for a stage IV diffuse large B cell lymphoma two years prior. The patient received 8 cycles of R-CHOP chemotherapy and achieved a complete remission. One year later, he had a recurrence and was treated with 7 cycles of RICE chemotherapy. Eleven months later, he presented with leukopenia. A bone marrow examination revealed involvement by B cell ALL. Cytogenetic analysis showed a hypodiploid complex karyotype which included a homogeneously staining region (hsr) at chr11(q23). Metaphase FISH analysis showed amp(MLL) in the hsr. Patient 2 is a 62 year old male who five years prior had been diagnosed with a pleiomorphic sarcoma of the left hip. The patient received four cycles of doxorubicin and ifosfamide as well as radiation therapy. The patient remained well for five years but then presented with bleeding and a petechial rash. A complete blood count revealed anemia and thrombocytopenia. A bone marrow examination was performed which showed involvement by B cell ALL. Cytogenetic analysis showed multiple numerical and structural abnormalities including an hsr at chr11(q23) in all lines as well as a second hsr in two sidelines. Metaphase FISH analysis showed amp(MLL) in all cells and in both hsrs. Immunophenotypic analysis showed both cases to express a Pro-B cell (CD10-) phenotype with aberrant myeloid antigen expression. Frequent molecular perturbation makes the MLL locus one of the most common genetic targets in hematologic malignancies, particular in therapy-related neoplasms. The majority of MLL genetic alterations result in translocations involving the MLL gene. These translocations result in fusion proteins with heterologous functions of MLL that result in a block of differentiation. Similarly, amp(MLL), while not creating an abnormal fusion protein involving MLL, also is considered to be a “gain of function” mutation caused by increased expression of MLL. There seems to be an increased frequency of aml(MLL) in therapy-related myeloid disorders. In summary, we report, to our knowledge, the first cases of therapy-related pro B cell (CD10-) ALL associated with amp(MLL). The shared phenotype between B cell ALLs with MLL rearrangements and amp(MLL) suggests that both lesions may exert similar influences on the transcriptional programs of these leukemias. This observation extends the family of MLL-associated and therapy-related hematologic disorders. Disclosures: No relevant conflicts of interest to declare.

Sustained expression of nucleophosmin (NPM1) mutation at late relapse presenting as isolated myeloid sarcoma in a patient with acute myeloid leukemia

2007 ◽  
Vol 86 (10) ◽  
pp. 763-765 ◽  
Author(s):  
Sebastian Scholl ◽  
Joachim Lüftner ◽  
Lars-Olof Mügge ◽  
Volker Schmidt ◽  
Hans-Jörg Fricke ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Myeloid Sarcoma ◽  
Late Relapse ◽  
Npm1 Mutation ◽  
Acute Myeloid

An Unusual Case Of Disseminated Histiocytic Sarcoma Preceded By Myeloid Sarcoma With Concomitant Acute Myeloid Leukemia

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S107-S108
Author(s):  
A C Reddy ◽  
K S Reddy
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Lymphoblastic Leukemia ◽  
Neck Mass ◽  
Histiocytic Sarcoma ◽  
Myeloid Sarcoma ◽  
Monocytic Differentiation ◽  
Tissue Samples ◽  
Disseminated Disease ◽  
Acute Myeloid

Abstract Introduction/Objective Histiocytic sarcoma (HS) is rare (<1% of hematolymphoid neoplasms), and can present extranodally as disseminated disease. Immunophenotypically, the cells express CD163, CD68, lysozyme and CD45. HS often occurs as a secondary event following B-cell lymphomas, acute lymphoblastic leukemia or acute myeloid leukemia (AML) typically with monocytic differentiation retaining the same molecular/cytogenetic abnormalities as the primary tumor. Results Our patient, a 47 year old male was diagnosed with myeloid sarcoma (MS) following FNA of a new neck mass. A bone marrow biopsy revealed AML without monocytic differentiation. Flow cytometric findings of both marrow and neck mass were similar (positive for CD34, CD117, CD33, CD11b, CD13, CD15, CD64, CD7; negative for CD4, CD14, CD56). Karyotypic and FLT3 ITD mutation analysis were normal. CNS involvement was diagnosed 2 months later, while a marrow biopsy (status post therapy) confirmed resolution of AML. A hypermetabolic left perinephric mass noted by PET CT, when biopsied, showed large epithelioid polygonal cells with amphophilic cytoplasm and atypical vesicular nuclei (positive for CD68, PU.1; negative for LCA, CD163, CD34, CD4, pankeratin). A diagnosis of atypical epithelioid neoplasm suggestive of HS was rendered, although negativity for LCA and CD163 was unusual. No treatment was given for HS. A month later, the patient presented with a cheek mass diagnosed again as being suggestive of HS. His AML also relapsed. Next-generation sequencing (37 genes including BRAF) from both marrow and tissue samples detected the presence of a nonsense mutation in exon 7 of WT1 (p.Ser169). Conclusion Our case appears to be the first reported one of disseminated HS preceded by MS and concomitant AML, lacking monocytic differentiation. The findings overall support the hypothesis of origin as being from a common progenitor cell differentiating along both myeloid and histiocytic/other cell lineages at different time points.

scholarly journals A Novel Compound Heterozygous Mutation in ABCB4 Gene Leading to Cholelithiasis, Progressive Familial Intrahepatic Cholestasis (Type 3), and Cirrhosis in a Child

2020 ◽  
Vol 10 (01) ◽  
pp. e134-e136
Author(s):  
Nida Mirza ◽  
Smita Malhotra ◽  
Anupam Sibal
Keyword(s):  
Intrahepatic Cholestasis ◽  
Gall Stone ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Initial Symptom ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Presenting Symptoms ◽  
Abcb4 Gene ◽  
Type 3

AbstractProgressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive disorders of childhood which presents with intermittent or progressive episodes of cholestasis, with jaundice and pruritus as most common presenting symptoms. PFIC type 3 occurs due to mutations in the ABCB4 gene, mutation in this gene has wide spectrum of features which include intrahepatic stones, cholelithiasis, PFIC type 3, and intrahepatic cholestasis of pregnancy. Here, we are reporting a peculiar case of young male adolescent with novel variant compound heterozygote missense mutation in ABCB4 gene who had gall stone as initial symptom, followed by symptoms of PFIC and eventually decompensated chronic liver disease.

scholarly journals Isolated Gastric Myeloid Sarcoma: A Case Report and Review of the Literature

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Pankit Vachhani ◽  
Prithviraj Bose
Keyword(s):  
Bone Marrow ◽  
Acute Myeloid Leukemia ◽  
Case Report ◽  
Myeloid Leukemia ◽  
Bone Marrow Involvement ◽  
Myeloid Sarcoma ◽  
Review Of The Literature ◽  
Aged Woman ◽  
Middle Aged Woman ◽  
Acute Myeloid

Myeloid sarcoma represents the proliferation of myeloblasts of acute myeloid leukemia (AML) at extramedullary sites. While extramedullary involvement in AML is uncommon in itself, isolated myeloid sarcomas, that is, myeloid sarcomas without any bone marrow involvement, are extremely rare and pose a diagnostic and therapeutic challenge. Here, we present the case of a middle-aged woman with isolated myeloid sarcoma in the stomach—an organ seldom involved by this disease. Additionally, the literature on the epidemiology, diagnosis, pathology, prognosis, and therapeutic options in myeloid sarcomas has been reviewed.

scholarly journals Acute Myeloid Leukemia Concurrent with Spinal Epidural Extramedullary Myeloid Sarcoma Accompanied by a High CD25 Expression and the FLT3-ITD Mutation

2014 ◽  
Vol 53 (11) ◽  
pp. 1159-1164 ◽  
Author(s):  
Yusuke Isshiki ◽  
Chikako Ohwada ◽  
Emi Togasaki ◽  
Ryoh Shimizu ◽  
Nagisa Hasegawa ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Myeloid Sarcoma ◽  
Cd25 Expression ◽  
Spinal Epidural ◽  
Acute Myeloid

scholarly journals Infant Acute Myeloid Leukemia: A Unique Clinical and Biological Entity

Cancers ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 777
Author(s):  
Charlotte Calvo ◽  
Odile Fenneteau ◽  
Guy Leverger ◽  
Arnaud Petit ◽  
André Baruchel ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Lymphoblastic Leukemia ◽  
Age Groups ◽  
Study Groups ◽  
Biological Entity ◽  
Age Group ◽  
Older Children ◽  
Megakaryoblastic Leukemia ◽  
Acute Myeloid

Infant acute myeloid leukemia (AML) is a rare subgroup of AML of children <2 years of age. It is as frequent as infant acute lymphoblastic leukemia (ALL) but not clearly distinguished by study groups. However, infant AML demonstrates peculiar clinical and biological characteristics, and its prognosis differs from AML in older children. Acute megakaryoblastic leukemia (AMKL) is very frequent in this age group and has raised growing interest. Thus, AMKL is a dominant topic in this review. Recent genomic sequencing has contributed to our understanding of infant AML. These data demonstrated striking features of infant AML: fusion genes are able to induce AML transformation without additional cooperation, and unlike AML in older age groups there is a paucity of associated mutations. Mice modeling of these fusions showed the essential role of ontogeny in the infant leukemia phenotype compared to older children and adults. Understanding leukemogenesis may help in developing new targeted treatments to improve outcomes that are often very poor in this age group. A specific diagnostic and therapeutic approach for this age group should be investigated.

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