Blastic plasmacytoid dendritic cell neoplasm: report of a case presenting with lung and central nervous system involvement and review of the literature.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematopoietic malignancy with almost invariably cutaneous involvement and poor prognosis. We report a case of BPDCN in a 58-year-old man who presented with skin, lymph node, bone marrow, peripheral blood, lung, and central nervous system involvement. To the best of our knowledge, central nervous system (CNS) involvement as initial presentation has not been reported since the latest World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues in 2008. Review of the literature was performed on BPDCN cases published in 2008-2013 in PubMed. The major clinical, histopathologic, immunophenotypic, and cytogenetic aspects of the disease were discussed. Dermatologists and dermatopathologists should be aware of this rare disease for which nearly half of the patients present with only cutaneous lesions at diagnosis, as it may allow for early diagnosis and appropriate treatment.

An unusual case of mycosis fungoides with high proliferation index and C-MYC/8q24 translocation.

Mycosis fungoides is the most common entity among all cutaneous T cell lymphomas. Herein, we report for the first time a case of mycosis fungoides in a 51-year-old man with aggressive clinical course and confirmed C-MYC/8q24 translocation. Review of the literature reveals that dermal Ki-67 proliferation index not only correlates with the type and extent of skin involvement and clinical stage, but is also an independent adverse prognostic factor. Mycosis fungoides is associated with multiple genomic abnormalities, particularly in patients with tumor stage and advanced clinical stage, and gain of C-MYC/8q24 is associated with a shorter survival. Our patient showed a high dermal Ki-67 level and concomitant C-MYC/8q24 translocation, which may account for the aggressive clinical course and refractoriness to CHOP (cyclophosphamide, doxorubicin, vincristine, and prednisone) chemotherapy.

Inflammatory pseudotumor of the pharynx.

This is an interesting case of a pseudotumor mimicking a cancerous growth in the pharyngeal region in a 47 year old female. Careful review of the published literature revealed that this is the first such case treated using stereotactic radiation therapy and fifth case of inflammatory pseudotumor of the pharynx ever reported. Patient is doing well after 5 years of follow-up with clinical and radiological evidence of disease control. This case report serves in drawing the attention of the head and neck oncology community to this rare entity and also understanding the natural history of the disease while presenting some options for management.

Long term follow-up of allogeneic stem cell transplantation in patients with myelodysplastic syndromes using busulfan, cytosine arabinoside, and cyclophosphamide.

We report here the 10-year follow-up of 86 patients who underwent allogeneic stem cell transplantation (ASCT) for myelodysplastic syndrome (MDS). All patients received the busulfan, cytosine arabinoside, and cyclophosphamide (BAC) preparative regimen which consisted of busulfan 16 mg/kg, cytosine arabinoside 8 g/m(2) IV, and cyclophosphamide 120 mg/kg IV. Fifty-nine patients (69%) had de novo MDS; 26 (30%) had secondary MDS (treatment related), and one had a preceding aplastic anemia which progressed to MDS before transplant. Cytogenetics (80 patients) was classified as good (34%), intermediate (17%), or poor (42%). With a median follow-up for survivors of 124 months, the 10-year Kaplan-Meier estimates for overall survival (OS) was 43% (95% confidence interval [CI]: 31-53%). Cumulative nonrelapse mortality (NRM) and relapse was 43% (95% CI: 32-54%) and 19% (95% CI: 11-27%), respectively. No patient relapsed after 2 years. In patients with RAEB-T/AML, 10-year relapse-free survival (RFS), relapse, and NRM was 36%, 36%, and 27%, respectively. Younger age (P = 0.05), human leukocyte antigen (HLA) match (P = 0.002), good risk cytogenetics (P = 0.008), and having a related donor (P = 0.03) significantly improved overall and RFS in the multivariable analysis. The long-term follow-up of patients receiving the BAC regimen with ASCT in this study indicated durable relapse-free and OS with acceptable toxicity in this group of patients with high-risk features.

Adult T-Cell Leukemia/Lymphoma with CLL-Like Morphology-A Case Report.

Adult T-cell Leukemia/Lymphoma (ATL) is rarely seen in the U.S. and Europe, usually limited to African Americans from the southeastern U.S. and immigrants from HTLV-1 endemic areas. Reaching an accurate and timely diagnosis of ATL in such nonendemic areas can be challenging, owing to limited exposure, diverse manifestations, and varying cell morphology. We present a case of chronic adult T-cell leukemia (ATL) with Chronic Lymphocytic Leukemia- (CLL-) like morphology that remained untreated for ten years and then developed treatment refractory acute ATL crisis.

Positive pregnancy tests in a postmenopausal woman due to beta-human chorionic gonadotropin production by multiple myeloma.

Extensive immunochemical characterization has shown that the free beta subunit of hCG (betahCG) can be produced by common epithelial tumors, including lung, colon, and bladder. However, the expression of beta-human chorionic gonadotropin (hCG) in hematologic malignancies and its significance is largely unknown. We present an extremely rare case of positive serum betahCG in a postmenopausal woman with relapsed, refractory multiple myeloma with myeloma cells expressing betahCG on immunohistochemical stain.

Chronic vulvar fissure--a rare manifestation of mycosis fungoides.

BACKGROUND: Vulvar fissures are a common cause of vulvar pain and discomfort. The differential diagnosis of the underlying process is broad, and some cases remain undiagnosed. Mycosis fungoides, the dominant component of cutaneous T-cell lymphoma, rarely present as fissures. We report a case of a chronic vulvar fissure due to mycosis fungoides. CASE: A 55-year-old woman was referred to the vaginitis clinic for evaluation of a chronic vulvar fissure, 6 cm in length, located at the left interlabial sulcus. A detailed history and examination for other skin lesions revealed an erythematous pruritic patch on left breast that had been present for years. Repeat biopsies from both sites showed a dense dermal lymphocytic infiltrate composed predominantly of CD3- and CD4-positive T cell with minimal epidermotropism. A T-gamma polymerase chain reaction analysis demonstrated a clonal T-cell rearrangement. Based on a diagnostic algorithm that combines clinical features, histopathology, and molecular biology, a diagnosis of mycosis fungoides was confirmed. CONCLUSIONS: Patients presenting with vulvar lesions should always be suspected of having an underlying dermatosis, and a detailed examination for other skin lesions should be performed. In the presented case, once both skin lesions were linked clinically, repeat biopsies of both sites led to a confirmed diagnosis of mycosis fungoides.

Chromosome aberrations in a series of 120 multiple myeloma cases with abnormal karyotypes.

We identified 120 multiple myeloma (MM) cases with satisfactory cytogenetic evaluation and abnormal karyotypes. Hyperdiploid karyotype was found in 77 cases (64%), hypodiploid in 30 cases (25%), and the remaining 13 cases (11%) had a pseudodiploid karyotype. The most common numerical abnormalities were gains of chromosomes 15, 9, 3 followed by chromosomes 19, 11, 7, 21, and 5. Whole chromosome losses were also frequent involving primarily chromosomes X/Y, 8, 13, 14, and 22. Most cases showed also structural rearrangements leading to del(1p), dup(1q), del(5q), del(6q), del(8p), del(9p), del(13q), and del(17p). Chromosome 13/13q deletion was found in 52% of cases; complete loss of 13 was observed in 73% of cases, whereas 27% had interstitial deletions. In addition, 13/13q deletions occurred in 75% of nonhyperdiploid myeloma but only 39% of the hyperdiploid had 13/13q deletions. Translocations affecting 14q32/IGH region was seen 40 cases; t(11;14)(q13;q32) in 17 cases, t(14;16)(q32;q23) and t(8;14)(q24;q32) in three cases each, and t(6;14)(p21;q32) and t(1;14)(q21;q32) in two cases each. The remaining 14q32 translocations had various t(V;14) partners or of an undetermined origin. Remarkably, the 14q32/IGH translocations were less frequent in the hyperdiploid karyotypes than the nonhyperdiploid karyotypes (17 vs. 63%). Fourteen cases showed break at 8q24/CMYC site; seven of those had Burkitt's-type translocations. Our results revealed that conventional cytogenetics remains an important tool in elucidating the complex and divers genetic anomalies of MM. Cytogenetics identifies two distinct groups of MM, hyperdiploid and nonhyperdiploid, and establishes the presence of prognostic chromosomal markers such as 13/13q, 17p, 8q24, and 16q aberrations.

Retroperitoneal extramedullary anaplastic plasmacytoma masquerading as sarcoma: Report of a case with an unusual presentation and imprint smears.

BACKGROUND: Extramedullary plasmacytoma of the retroperitoneum is rare. Furthermore, plasmacytoma with anaplastic features can be confused with high grade sarcoma clinically and histologically, particularly when the initial immunohistochemical tumor markers are negative. However, paying attention to cytologic imprint smears can give valuable clues to the correct diagnosis. CASE: A 73-year-old male was admitted to our hospital with a recent history of back pain. Abdominal computed tomography revealed a large retroperitoneal mass (6.8 x 5.1 cm). The initial pathologic evaluation revealed a high grade pleomorphic neoplasm that failed to express multiple epithelial, mesenchymal, lymphoid and melanoma immunohistochemical markers. Subsequent fresh tissue evaluation with touch imprints and immunophenotypic characterization confirmed the plasma cell origin of the tumor. Thorough retrospective review of the touch imprint smears clearly showed the plasmacytic cytologic features. Features of multiple myeloma were essentially absent. CONCLUSION: Performing cytologic imprint smears on fresh tissue material may help in making the correct diagnosis and is highly recommended.

Variant t(14;18) in malignant lymphoma: a report of seven cases.

The BCL2 gene was identified through molecular analysis of the breakpoints involved in the t(14;18)(q32;q21) found in the majority of follicular lymphomas (FL). Variant translocations leading to juxtaposing of the BCL2 with either the IGK or IGL gene have been recognized in B-cell malignant lymphoma, although they are rare. We identified seven lymphoma cases that had variant translocations. Three cases had simple translocations involving two chromosomal regions: t(18;22)(q21;q11.2) in two cases and t(2;18)(p11.2;q21) in the third case. Complex translocations affecting more than two chromosomes were seen in the remaining four cases. Fluorescence in situ hybridization using the LSI IGH/BCL2 DNA probes revealed rearrangements of the BCL2 gene locus in all cases. In addition, expression of BCL2 protein was seen in all cases; only five of the seven cases expressed BCL6 protein. Morphologically, the lymphomas were categorized as B-cell follicular lymphoma in six cases and in the seventh case as diffuse large cell lymphoma (Richter syndrome) transformed from preexisting chronic lymphocytic leukemia (CLL). In case 2, the variant t(18;22) was seen as a secondary aberration evolving from a trisomy 12 clone. The findings revealed that BCL2 rearrangements in some malignant lymphomas occur through variant simple or complex chromosomal translocations, but always involving the IGH, IGK, or IGL chromosomal site. In addition, fluorescence in situ hybridization proved to be an important tool in evaluating these cases by showing IGH/BCL2 gene fusion or repositioning of the BCL2 gene.

Lacunar and reed-sternberg-like cells in follicular lymphomas are clonally related to the centrocytic and centroblastic cells as demonstrated by laser capture microdissection.

Two cases of follicular lymphoma (FL) with numerous large cells resembling the lacunar and Hodgkin and Reed-Sternberg (HRS) cells of classic Hodgkin lymphoma were studied to determine clonal relationships between the HRS-like cells and centrocytic and centroblastic (CCCB) cells. In both cases, CCCB cells were typical of FL; CD45RB, CD20, CD10 and BCL-2 positive. In case 1, the HRS-like cells were positive for CD45RB, CD20, CD10, CD30, OCT2, and BOB.1 and negative for CD15 and bcl-2. In case 2, the HRS-like cells were positive for CD30, fascin, CD20, OCT2, and BOB.1 and negative for CD45RB, CD10, CD15, and bcl-2. CCCB and single HRS-like cells were isolated by laser capture microdissection followed by polymerase chain reaction amplification and sequencing of immunoglobulin heavy chain gene rearrangements. In both cases, identical sequences were obtained from CCCB and HRS-like cells. These findings confirm that although the HRS cells and CCCB cells in these cases demonstrate morphologic and immunophenotypic divergence, they share a common cell of origin. These cases further highlight the potential diagnostic pitfall presented by FL with HRS-like cells.