Carmen Illueca

Pleomorphic hyalinizing angiectatic tumor: a report of 3 new cases, 1 with sarcomatous myxofibrosarcoma component and another with unreported soft tissue palpebral location.

Pleomorphic hyalinizing angiectatic tumor (PHAT) is an uncommon soft tissue tumor usually located in extremities or trunk. We report 3 new cases with histopathologic diagnosis of PHAT, one with recurrence and sarcomatous myxofibrosarcoma component and another with unreported soft tissue palpebral location. Clinical data, histopathology, immunohistochemistry, fluorescence in situ hybridization, and follow-up data are described. The histopathology showed a tumor with angiectatic blood vessel proliferation and perivascular hyaline material associated with focal pleomorphic cells. The recurrent tumor revealed a histopathologic pattern corresponding to a myxofibrosarcoma. Vimentin and CD99 were positive in tumor cells and CD34 was strongly positive in the tumor cells from the recurrence. Ki-67 was poor positive but with increased positivity in the recurrence. The positivity of p53 and chromosome 22 polysomy were detected in the recurrence. At present, the 3 patients are free of disease and no metastases have been detected. Indeed, the possibility that PHAT may represent a histopathologic pattern and not a true neoplastic entity with specific genetic alterations cannot be excluded at present, and further studies are required.

Uncommon vascular tumor of the ovary. Primary ovarian epithelioid hemangioendothelioma or vascular sarcomatous transformation in ovarian germ cell tumor

Epithelioid hemangioendothelioma (EHE) is an unusual vascular tumor, which usually occurs in the soft tissue, liver, breast, lung and bone. We submit a case of EHE, a tumor never before reported in the ovary. A 20-year-old woman was admitted with a medical history of unilateral ovarian tumor. The right ovary was totally removed and histologically, the tumor was composed of epithelioid cells with eosinophilic cytoplasm and prominent intracytoplasmic vacuoles associated with myxohyaline matrix. No morphologic evidence of germ cell tumor was observed. Immunohistochemically, the tumor cells were positive for CD31 and CD34. However, all germ cell tumor markers were negative. The final diagnosis was EHE of the ovarian gland and sarcomatous transformation in ovarian germ cell tumor was excluded after extensive histopathological and immunohistochemical study. EHE is an uncommon vascular tumor, which is rarely seen in female genital tract and this is the first report of EHE in ovarian gland. Final diagnosis depends on histopathological and immunohistochemical features.

Diagnostic and therapeutic update of mantle cell lymphoma (MCL): analysis of seven cases treated in a centre in one year

Mantle cell lymphoma (MCL) is an infrequent subtype of non-Hodgkin’s lymphoma (NHL) and represents between 4–8% of adult lymphomas. Recently an increase in its incidence to 1–2 cases/100,000 inhabitants/year has been observed. The first line of treatment is based on chemoimmunotherapy and depends on age and the initial stage at diagnosis. There are no second line or successive treatments. There are currently several drugs available that provide acceptable results.

Histologic transformation to diffuse large B cell lymphoma with profuse signet-ring cell change in bone marrow and lymph node biopsies in a patient with marginal zone lymphoma. A cytologic-histologic correlation.

Dear Sir, Lymphomas with signet-ring cell change are an uncommon morphologic variant of non-Hodgkin lymphoma (NHL) in which the whole tumor contains variable proportions of lymphocytes with a signet-ring appearance. Most reported cases are follicular lymphomas with a morphologic description of the lymph node or bone marrow findings. To the best of our knowledge, signet-ring cell change in MALT lymphomas are not frequently reported and the histologic transformation to diffuse large B cell lymphoma (DLBCL) with profuse signet-ring cell change in bone marrow and lymph node biopsies in a patient with marginal zone lymphoma has not yet been described. A 56-year-old man had a history of a left pulmonary hilar tumor mass (11 cm; Fig. 1A) with a histologic diagnosis of marginal zone B cell NHL (MZL), Stage IIE (A; Bulky disease) in 2013 at an external Institution. Chemotherapy with RCHOP 3 8 cycles was administered between June and December 2013. The patient remained in complete remission until December 2014 when a recurrence in one lymph node in the aorto-pulmonary window was detected and radiotherapy treatment was indicated. Currently, the patient has a multifocal nodal relapse with mediastinal and retroperitoneal involvement (Fig. 1B). Bone marrow biopsy was performed rendering a morphologic diagnosis of extensive infiltration by NHL with abundant signet-ring features (Figs. 1C and D). An excisional biopsy of the supraclavicular lymph node was performed and intraoperative imprint cytologic evaluation was requested. The smears were hypercellular, with single cells and cohesive cell clusters of small to medium-sized lymphoid cells (Fig. 2A). Many of the lymphoid cells revealed intracytoplasmic vacuoles that pressed the nucleus, imparting a signet ring appearance (Fig. 2B). Several vacuoles seemed clear and empty (Fig. 2B). Tumor cells showed cleaved nuclei with inconspicuous nucleoli. A diagnosis of lymphoma with signet-ring cells was rendered pending histologic confirmation. The lymph node biopsy revealed two histological components (low grade and high grade). The normal lymph node architecture was effaced by a proliferation of signet-ring cells exhibiting a marginal zone growth pattern (Fig. 2C). Residual germinal centers varied in size and abrupt histological transformation to diffuse sheets of large cells was noted. Many of the neoplastic cells in the marginal zone showed distinct cytoplasmic vacuolization, compressing and displacing the nucleus to the periphery (signet-ring change) that could be appreciated infiltrating between and within the diffuse areas (Figs. 2D, 3A, and B). PAS and mucin stains did not reveal glycogen or mucin deposits. *Correspondence to: Isidro Machado, MD, Pathology Department, Instituto Valenciano de Oncolog ıa, c/Gregorio Gea 31, Valencia, Spain. E-mail: isidro.machado@uv.es Conflicts of interest and sources of funding: there is no conflict of interest Received 15 April 2016; Revised 1 June 2016; Accepted 5 July 2016 DOI: 10.1002/dc.23536 Published online 19 July 2016 in Wiley Online Library (wileyonlinelibrary.com).

Mutational profile of primary breast diffuse large B-cell lymphoma

Primary breast lymphoma is a rare form of extra-nodal lymphoid neoplasm. The most common histological type is the diffuse large B-cell lymphoma, which represents 60–80% of all the cases. Our study analyzes the mutational profile of the primary lymphoma of the breast through targeted massive sequencing with a panel of 38 genes in a group of 17 patients with primary breast diffuse large B-cell lymphoma. Seventy-point-five percent of the patients presented with stage IE and 29.5% with stage IIE. 44% of the cases correspond to lymphomas with germinal center phenotype and 33.3% to activated B-cell. The genes with a higher mutational frequency include PIM1 (in 50% of the analyzed samples), MYD88 (39%), CD79B, PRDM1 and CARD11 (17%), KMT2D, TNFIAP3 and CREBBP (11%). The profile of mutant genes involves mostly the NFκB signaling pathway. The high frequency of mutations in PIM1 compared with other lymphomas may have implications in the clinical presentation and evolution of this type of lymphoma.

Erratum: Diagnostic and therapeutic update of mantle cell lymphoma

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1630PGENOMIC CHARACTERIZATION OF EARLY STAGES OF OVARIAN CANCER WITH EMPHASIS IN LOW-GRADE ENDOMETROID AND LOW-GRADE SEROUS HISTOLOGIES. A STUDY BY SPANISH GROUP FOR OVARIAN CANCER RESEARCH (GEICO)

ABSTRACT Aim: Early-stage (FIGO stage I/IIB) ovarian carcinoma (ESOC) represents 15% of all ovarian cancers and the molecular characterization of their different histologies has not been clearly defined. The aim of this study is to measure genomic abnormalities on a series of ESOCs to identify molecular alterations that influence pathophysiology, prognosis and constitute therapeutic targets. Methods: A centralized pathological review of 573 primary ESOC was performed from samples belonging to the GEICO ESOC Registry. A series of 31 formalin-fixed and paraffin-embedded (FFPE) low-grade endometrioid (LGE) and 15 two-tier low-grade serous (LGS) ESOC were selected for analyses. Recurrence was reported in 6 of the 46 analyzed cases. Transcriptome analyses was performed in 36 cases (12 LGS and 24 LGE) using the GeneChip® Human Transcriptome Array 2.0 (Affymetrix). Whole genome copy number variations (CNV) was analyzed in the 46 cases with the OncoScanTM FFPE Assay Kit (Affymetrix). Results: Expression analyses showed 227 genes differentially expressed (fold change >2.0 and p Conclusions: Our study demonstrates the genomic heterogeneity of LGE and LGS ESOC and provides clues for the identification of potential new biomarkers that could be used as prognostic or therepeutic targets in specific biotypes of ESOC. Disclosure: All authors have declared no conflicts of interest.