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To explore the characteristics of the mitochondrial genome (mitogenome) of the squeaking silkmoths Rhodinia, a genus of wild silkmoths in the family Saturniidae of Lepidoptera, and reveal phylogenetic relationships, the mitogenome of Rhodinia fugax Butler was determined. This wild silkmoth spins a green cocoon that has potential significance in sericulture, and exhibits a unique feature that its larvae can squeak loudly when touched. The mitogenome of R. fugax is a circular molecule of 15,334 bp long and comprises 13 protein-coding genes, two ribosomal RNA genes, 22 transfer RNA genes, and an A + T-rich region, consistent with previous observations of Saturniidae species. The 370-bp A + T-rich region of R. fugax contains no tandem repeat elements and harbors several features common to the Bombycidea insects, but microsatellite AT repeat sequence preceded by the ATTTA motif is not present. Mitogenome-based phylogenetic analysis shows that R. fugax belongs to Attacini, instead of Saturniini. This study presents the first mitogenome for Rhodinia genus. [ABSTRACT FROM AUTHOR]

Objective To explore the clinicopathological features, immunophenotype, molecular genetics, differential diagnosis and prognosis of diffuse midline glioma, H3 K27M mutant. Methods and Results A 21-year-old male patient suffered from polydipsia and polyuria. Physical examination showed that the visual sensitivity on both sides was weakened, the visual field was complete, and other signs were negative. Brain MRI showed that T1WI iso-low signal and T2WI iso-high signal occupied the suprasellar space, and enhanced unevenly. The patient underwent surgical treatment, with a greyish-red colour, soft texture and abundant blood supply. The tumor was partially resection. Histological findings showed the tumor was mainly composed of spindle shaped and ellipsoidal cells with occasionally typical mitotic activity, which were arranged in fascicularis, swirly or perivascular pseudorosettes patterns, with the moderate- to high-density. Small focal areas of necrosis and proliferation of microvessel also could be seen. Immunohistochemical staining showed the nuclei of tumor cells was diffusely positive for histone H3 K27M mutant protein (H3 K27M), oligodendrocytes transcription factor-2 (Olig-2) and P53, cytoplasm was positive for glial fibrillary acidic protein (GFAP), vimentin (Vim), microtubule-associated protein-2 (MAP-2), synaptophysin (Syn) and nestin (Nes), cytoplasm and nuclei were positive for S-100 protein (S-100). Ki-67 labeling index was 10%-20%. Whole genome sequencing (WGS) revealed the presence of H3 K27M and BRAF V600E gene mutations. Integrational diagnosis was diffuse midline glioma, H3 K27M mutant (WHO IV) lied in saddle area. The patient died 11 months after surgery. Conclusions Diffuse midline glioma, H3 K27M mutant is a group of primary brain neoplasm of recent acquisition in the 2016 WHO classification of central nervous system tumors, with the diverse histological appearance (WHOII-IVgrade), which was misdiagnosed easily. The most important clues for diagnosis were age (mostly in child), location (midline of the brain), diffusely growth pattern, and harbored histone H3 K27M mutation. [ABSTRACT FROM AUTHOR]

Aims: MITF, TFE3, TFEB and TFEC belong to the same microphthalmia‐associated transcription factor family (MiT). Two transcription factors in this family have been identified in two unusual types of renal cell carcinoma (RCC): Xp11 translocation RCC harbouring TFE3 gene fusions and t(6;11) RCC harbouring a MALAT1–TFEB gene fusion. The 2016 World Health Organisation classification of renal neoplasia grouped these two neoplasms together under the category of MiT family translocation RCC. RCCs associated with the other two MiT family members, MITF and TFEC, have rarely been reported. Herein, we identify a case of MITF translocation RCC with the novel PRCC–MITF gene fusion by RNA sequencing. Methods and results: Histological examination of the present tumour showed typical features of MiT family translocation RCCs, overlapping with Xp11 translocation RCC and t(6;11) RCC. However, this tumour showed negative results in TFE3 and TFEB immunochemistry and split fluorescence in‐situ hybridisation (FISH) assays. The other MiT family members, MITF and TFEC, were tested further immunochemically and also showed negative results. RNA sequencing and reverse transcription–polymerase chain reaction confirmed the presence of a PRCC–MITF gene fusion: a fusion of PRCC exon 5 to MITF exon 4. We then developed FISH assays covering MITF break‐apart probes and PRCC–MITF fusion probes to detect the MITF gene rearrangement. Conclusions: This study both proves the recurring existence of MITF translocation RCC and expands the genotype spectrum of MiT family translocation RCCs. [ABSTRACT FROM AUTHOR]

Two new iridoid esters, named patriheterdoid B, C, have been isolated from the rhizomes and roots of Patrinia heterophylla Bunge. Their structures were elucidated by extensive spectroscopic technologies. Together with patriheterdoid B, C, two known analogues have been isolated and identified by means of mass spectrometry and 1H and 13C NMR spectrometry. These compounds showed cytotoxic activity against SGC-7901, PC3 cell lines. [ABSTRACT FROM AUTHOR]

Anaplastic lymphoma kinase (ALK)-rearranged renal cell carcinoma (RCC) is a novel entity of rare tumors with only 10 cases reported in the literature. Three RCC cases bearing VCL-ALK gene fusion were all young African American patients and associated with sickle cell trait notably. In contrast to the 3 reported cases, this neoplasm occurred in a middle-age woman (57 years old) without any evidence of sickle cell trait and demonstrated an infiltrating growth pattern with tubular, tubulopapillary, and tubulocystic structures, overlapping with collecting duct carcinoma and renal medullary carcinoma. Abundant intraluminal mucin was also noted significantly in the histologic sections. Immunostaining showed strong membranous labeling for ALK protein. We applied a large panel-targeted next-generation sequencing to explore the molecular alterations in the current case, revealing a driver oncogene VCL-ALK gene fusion co-occurring with pathogenic mutations in EP300 and TRRAP genes. Thereafter, fluorescence in situ hybridization assay was used to detect the ALK gene rearrangement. Reverse transcription polymerase chain reaction confirmed the presence of a VCL-ALK gene fusion, a fusion of VCL exon 16 to ALK exon 20. Our report draws the attention to the possibility that VCL-ALK genotype can be involved in older patients unassociated with sickle cell trait, also expanding the spectrum to ALK-rearranged RCC., (Copyright © 2019 Elsevier GmbH. All rights reserved.)

Pulmonary enteric adenocarcinoma (PEAC), a extremely rare variant of primary invasive adenocarcinoma of the lung, was recognized by the international multidisciplinary classification of lung adenocarcinoma which was proposed by the International Association for the Study of Lung Cancer (IASLC), the American Thoracic Society (ATS), and the European Respiratory Society (ERS) published in early 2011. Histologically, PEAC is considered to be mainly composed of tall columnar cells arranged in an irregular glandular cavity or cribriform pattern with extensive central necrosis which show high resemblance to that of intestinal epithelia and colorectal carcinomas. Immunohistochemically, PEAC can not only expresses typical proteins common to lung primaries but is positive for at least one intestinal markers, such as CDX2, cytokeratin (CK) 20, MUC2, therefore, the differentiation of primary PEACs from metastatic colorectal cancers can be challenging. In this study, we report 9 cases of PEAC and a panel of immunohistochemical protein markers of CK7, CK20, thyroid transcription factor 1 (TTF-1), Napsin A, MUC2 and villin was analyzed with the comparison of 20 metastatic colorectal carcinomas (MCRs), and 20 typical primary adenocarcinomas (tPACs). As was expected, CK7 expression was documented in all 9 PEACs and 20 tPCAs while CK20 was significantly more prevalent in adenocarcinoma that originated from colorectal. Additionally, we evaluate the classical mutations of EGFR, KRAS in the 9 cases of PEACs, it turned out that all tumors were EGFR-wild and KRAS-wild types, which confirmed that PEAC has a separate phenotype from usual pulmonary adenocarcinoma.

Objective: To investigate the clinical pathological features, diagnosis and differential diagnosis of pigmented dermatofibrosarcoma protuberance (PDFSP)., Methods: The clinical history, histopathological features, immunohistochemical characteristics, treatment and prognosis were analyzed in seven cases of PDFSP. Fluorescence in situ hybridization (FISH) was used to detect the expression of COL1A1/PDGFB fusion gene, and related literature was reviewed., Results: The median age of the seven patients (4 females, 3 males) was 47 years with the tumors involving mostly the trunk (four cases). Histologically, PDFSP showed a cellular lesion composed of spindle cells arranged in short fascicles that form a distinct storiform pattern, and the pigmented bipolar or multipolar dendritic cells were present with tentacle like processes emanating from a nucleus containing zone. One case showed fibrosarcomatous change. The pigment was tinctorially similar to melanin. The spindle cells were positive for CD34 and vimentin, but negative for HMB45, Melan A, S-100, desmin, CD68 or α-SMA. HMB45, Melan A, S-100 and vimentin were expressed in the melanin containing cells in 4, 4, 5 and 7 cases, respectively. The labeling index of Ki-67 was 1%-8%. Among the 4 cases successfully examined by FISH, 3 showed t(17;22)(q21;q13) which suggested COL1A1/PDGFB fusion gene. Three patients were treated by wide local excision and four were treated by simple surgical excision. Two patients developed recurrences during the follow-up period of 12 to 123 months. Of those treated by wide local excision, none developed recurrence. No patient died in the follow-up period., Conclusions: PDFSP is a rare pigmented variant of DFSP and an intermediate grade malignant tumor. The orgin of the tumor cells is still controversial. Surgical pathologists and dermatopathologists need to be aware of the prototypical histological appearance of PDFSP as there is a risk of misdiagonsing it as either pigmented tumors associated with neurocutaneous syndromes or a highly malignant melanocytic neoplasm.

Reported herein is a medical curiosities vascular tumor primary arising from the kidney and exhibiting unique histopathological features. A 32-year-old woman underwent a total nephrectomy of right kidney because of a mass localized in the inferior pole. Distinct from other vascular lesions, on histology the tumor had a peculiar composite pattern, consisting of benign and malignant vascular components, which were haphazardly intermixed without any definite margins. The malignant component was composed of epithelioid hemangioendothelioma (45%) and angiosarcoma (50%) with moderate differentiation. Immunohistochemically, the oval to cuboidal to spindle tumor cells expressed only endothelial markers (CD31, CD34 and factor VIII-related antigen). And the angiosarcomatous component was characterized by the presence of a greater proliferation index Ki-67. Unlike other epithelial tumors, smooth muscle actin (SMA), cytokeratin, EMA and S-100 were all negative in the epithelioid tumor cells. These findings led to the diagnosis of a low-grade vascular neoplasm with morphological features consistent with so-called composite hemangioendothelioma (CHE). At 11 month follow up the patient was alive, without evidence of tumor recurrence. CHE is an extremely rare vascular neoplasm, with borderline malignant potential, which mostly occurs in distal extremity of the limbs at the cutaneous level and, only 30 cases have been previously described until now. To our knowledge, this is the first report of CHE arising from the kidney and widens the spectrum of primary vascular tumors arising in the kidney.

In this study, we presented an additional case of renal hemangioblastoma, which demonstrates PAX2 and focal CD10 expression. Histologically, the tumor consisted of sheets of oval or polygonal cells and a prominent vascular network. The tumor cells varied in size, and possessed pale or eosinophilic cytoplasm that sometimes contained sharply delineated fine vacuoles. The tumor cell nuclei with inconspicuous nucleoli showed moderate nuclear atypia and pleomorphism. Focal areas of stromal hyalinization and sclerosis were detected. On account of its strong or moderate immunoreactivity for the a-inhibin, S100, NSE, and EGFR, the diagnosis of renal hemangioblastoma was established. For further evidence of VHL deficiency, the tumor was subjected to VHL sequence analysis of all three exons and fluorescence in situ hybridization (FISH) detection for chromosome 3p deletion. None of the VHL gene mutations and chromosome 3p deletion was detected in the tumor. Because of several shared morphological and immunophenotypic features, renal hemangioblastoma may be underrecognized and should be included in the differential diagnosis of primary renal tumors, in particular clear cell renal cell carcinoma. The unexpected positive staining of PAX2 and CD10 in renal hemangioblastoma should be particular concerned. Using a combination of immunoprofile may be helpful to the differential diagnosis of these renal tumors.