AimsSmall cell lung cancer (SCLC) carries a poor prognosis, and the systemic therapies currently used as treatments are only modestly effective, as demonstrated by a low 5-year survival at only ∼5%. In this retrospective collected from March 2013 to study, we performed comprehensive genomic profiling of 98 small cell undifferentiated lung cancer (SCLC) samples to identify potential targets of therapy not currently searched for in routine clinical practice.MethodsDNA from 98 SCLC was sequenced to high, uniform coverage (Illumina HiSeq 2500) and analysed for all classes of genomic alterations.ResultsA total of 386 alterations were identified for an average of 3.9 alterations per tumour (range 1–10). Fifty-two (53%) of cases harboured at least 1 actionable alteration with the potential to personalise therapy including base substitutions, amplifications or homozygous deletions in RICTOR (10%), KIT (7%), PIK3CA (6%), EGFR (5%), PTEN (5%), KRAS (5%), MCL1 (4%), FGFR1 (4%), BRCA2, (4%), TSC1 (3%), NF1 (3%), EPHA3 (3%) and CCND1. The most common non-actionable genomic alterations were alterations in TP53 (86% of SCLC cases), RB1 (54%) and MLL2 (17%).ConclusionsGreater than 50% of the SCLC cases harboured at least one actionable alteration. Given the limited treatment options and poor prognosis of patients with SCLC, comprehensive genomic profiling has the potential to identify new treatment paradigms and meet an unmet clinical need for this disease.
Urothelial carcinoma (UC) of the renal pelvis has been rarely shown to metastasize to the skin. Tumor seeding from iatrogenic procedures is a source of spreading of UC to the skin. We herein present a case of primary UC of the renal pelvis with spreading to the skin from a percutaneous nephrostomy tract.
Spinal primary dural lymphoma (PDL) is uncommon with a total of 37 previous well-documented cases reported, including one diagnosed in the authors' institution. More recently we encountered an additional case of spinal PDL that, similarly to our previous case, was grade 1-2 follicular B-cell PDL. Our two cases were diagnosed over a 3-year interval in a 72-year-old female and a 74-year-old male, respectively. An exhaustive literature review on PDL was performed consequently to reveal that: (i) spinal and cerebral sites of involvement by PDL are constantly mutually exclusive; and (ii) unlike cerebral PDL, which is usually of marginal zone B-cell type, only two of the 38 cases of spinal PDL were diagnosed as such, diffuse large B-cell lymphoma being the most commonly encountered type in the spine. This divergence infers that, in contrast to the prevailing concept that PDL is a unique disease group, PDL appears to be rather heterogeneous with a difference in predilection of lymphoma type for the anatomical site of dural involvement. Such a site-specific lymphoma-type predilection phenomenon, well-recognized in other organ systems, has not been acknowledged in PDL. This report brings new insights into PDL, and may contribute to a better understanding of nervous system pathophysiology and lymphoma classification.
Growing teratoma syndrome is a rare entity of tumors, it arises seldomly from ovarian and testicular carcinoma. It presents with disseminating masses of mature teratoma during or following chemotherapy of malignant germ cell tumors. We are reporting a 19-year old presented with recurrent left ovarian mass and supra renal large mass close to the porta hepatis was seen on magnetic resonance imaging. This patient was treated 3 years ago for stage I immature teratoma with left ovarian cystectomy and chemotherapy. Surgical excision of the left ovary and the abdominal mass required meticulous dissection, and the mass was shaved off the porta hepatis with no intraoperative or postoperative complications. Pathology showed mature teratoma. She has no recurrent 5 years after treatment. To the best of our knowledge, this is the first case report describing close relation of growing teratoma syndrome to the porta hepatis, no such case report like this has been reported in our region.
Enteropathy-associated T cell lymphoma (EATL) and anaplastic large T cell lymphoma ALK-positive (ALCL-ALK+) are two well-defined and recognized T cell lymphoma entities. We report a case of primary ileal lymphoma in a 68-year-old male with a well-established long-standing his
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.