Myeloid Sarcoma of the Urinary Bladder Associated With t(8;21): Case Report and Review of the Literature
We report a case of a 30-year-old man with a urinary bladder mass, which was consistent with myeloid sarcoma with t(8;21). The importance of myeloid sarcoma of the bladder is that it could be misdiagnosed and must be differentiated from other poorly differentiated bladder tumors composed of round cells, mainly because it is a malignant neoplasm with a good response to treatment, which does not require surgery. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - November 1, 2019 Category: Pathology Tags: Case Reviews Source Type: research
Hairy Cell Leukemia Presenting as Presternal Soft Tissue Mass: A Case Report With Review of Literature
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 ti...
Source: Pathology Case Reviews - November 1, 2019 Category: Pathology Tags: Case Reviews Source Type: research
Unusual Cases of Hairy Cell Leukemia With Uncommon Immunophenotypes: A Diagnostic Challenge
Hairy cell leukemia (HCL) is a rare indolent B-cell neoplasm with 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. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - November 1, 2019 Category: Pathology Tags: Case Reviews Source Type: research
MYC Alteration by Chromothripsis Event in Aggressive High-Grade B-Cell Lymphoma Negative by Conventional Fluorescence In Situ Hybridization Analysis: A Case Report
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 the MYC 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 o...
Source: Pathology Case Reviews - November 1, 2019 Category: Pathology Tags: Case Reviews Source Type: research
Granulomatous Slack Skin T-Cell Lymphoma Manifesting as Ulcerative and Gangrenous Lesions With a Fatal Outcome: A Case Report and Review of the Literature
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 ...
Source: Pathology Case Reviews - November 1, 2019 Category: Pathology Tags: Case Reviews Source Type: research
Unclassifiable Myelodysplastic/Myeloproliferative Neoplasm With Hypocellularity: A Classification Conundrum
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 SF3B1 mutation, although no increased ring sideroblasts were fou...
Source: Pathology Case Reviews - November 1, 2019 Category: Pathology Tags: Case Reviews Source Type: research
Next-Generation Sequencing Analysis in Posttransplant Relapsed Acute Myeloid Leukemia Reveals Clonal Evolution and Donor-Derived Germline Variant Indicating Bone Marrow Chimerism
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 pote...
Source: Pathology Case Reviews - November 1, 2019 Category: Pathology Tags: Case Reviews Source Type: research
Chronic Myelomonocytic Leukemia in a Patient With a Germline Predisposition and Short Telomeres
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 TERT mutation, 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...
Source: Pathology Case Reviews - November 1, 2019 Category: Pathology Tags: Case Reviews Source Type: research
Unusual Presentation of Myeloid Sarcoma in a Patient With Usher Syndrome
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 ...
Source: Pathology Case Reviews - November 1, 2019 Category: Pathology Tags: Case Reviews Source Type: research
Myeloid Neoplasia and Other Leukemias
No abstract available (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - November 1, 2019 Category: Pathology Tags: Editorial Source Type: research
Lymphoblastic Transformation of Follicular Lymphoma: A Case Report and Review of the Literature
We describe a patient initially diagnosed with low-grade FL with relapsed disease presenting as acute renal failure due to diffuse abdominal lymphadenopathy. Excisional biopsy of an inguinal lymph node at relapse showed high-grade areas with sheets of immature-appearing lymphoid cells adjacent to nodular areas characteristic of low-grade FL. Cells of both components were positive for BCL2 and CD19. The cells of the high-grade component were positive for CD99 and TdT and negative for CD20, whereas cells of the low-grade component were positive for CD20 and negative for CD99 and TdT. Fluorescence in situ hybridization studie...
Source: Pathology Case Reviews - August 28, 2019 Category: Pathology Tags: Case Reviews Source Type: research
Large B-Cell Lymphoma With IRF4 Rearrangement: From Theory to Practice
We report a rare case of a 19-year-old female patient presenting with a large B-cell lymphoma with IRF4 rearrangement located in the right tonsil, with characteristic histologic appearance and the phenotype of neoplastic cells. The presence of an IGH-IRF4 rearrangement was also confirmed, using a fluorescence in situ hybridization analysis with 2 successive hybridizations on the same slide. Patient was treated with 6 cycles of R-CHOP with no evidence of recurrence. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - August 28, 2019 Category: Pathology Tags: Case Reviews Source Type: research
The Enigma of Goblet Cell Tumors of the Appendix: Erratum.
No abstract available (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - August 28, 2019 Category: Pathology Tags: Erratum Source Type: research
Richter-like Pleomorphic Mantle Cell Lymphoma Composed of Epstein-Barr Virus–Positive Hodgkin-like Cells, a Diagnostic Challenge
Mantle cell lymphoma (MCL) is an aggressive non-Hodgkin lymphoma with distinctive clinicopathologic features including the presence of t(11;14)(q13;q32) in almost all cases. Histologically identifiable variants are well described. Most MCLs are the classic variant, although more aggressive variants including blastoid and pleomorphic exist. The pleomorphic variant is a morphologic subtype composed predominantly of large atypical lymphoid cells. This variant can arise de novo or occur in patients with previous history of MCL as result of disease progression and clonal evolution. Mantle cell lymphoma is characteristically Eps...
Source: Pathology Case Reviews - August 28, 2019 Category: Pathology Tags: Case Reviews Source Type: research
Transformed Follicular Lymphoma: The Role of the Pathologist in Aiding Therapeutic Decision Making
Follicular lymphoma (FL) is the second most common subtype of non-Hodgkin lymphoma. Follicular lymphoma is generally an indolent disorder, and despite being incurable with standard chemotherapy, recent advances in treatment strategies have improved clinical outcomes and survival. Over time, FL could acquire additional genetic mutations and transform into diffuse large B-cell lymphoma, a more aggressive B-cell neoplasm, which markedly reduces survival. Treatment of transformed FL is based on combination chemotherapy and immunotherapy. Rituximab has changed the treatment landscape in FL. However, novel approaches to treatmen...
Source: Pathology Case Reviews - August 28, 2019 Category: Pathology Tags: Case Reviews Source Type: research
