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1.
Mod Pathol ; 35(1): 33-43, 2022 01.
Article in English | MEDLINE | ID: mdl-34518631

ABSTRACT

Low-grade neuroendocrine carcinoma of the skin (LGNECS) was proposed in 2017 as a new primary cutaneous neoplasm with neuroendocrine differentiation; however, it is not yet well known due to its rarity. Herein, we perform a detailed clinicopathologic analysis of 13 cases as well as panel DNA sequencing in three cases. The study included 12 males and 1 female with a median age of 71 (43-85) years. All lesions occurred on the ventral trunk. The mean tumor size was 2.2 (0.8-11.0) cm. The histopathology resembled that of well-differentiated neuroendocrine tumors (NETs) in other organs, but intraepidermal pagetoid spreading was seen in 8 (61.5%) cases and stromal mucin deposits in 4 (30.8%). Immunoreactivity for CK7, CK19, EMA, BerEP4, CEA, chromogranin A, synaptophysin, INSM1, GCDFP15, GATA3, ER, and bcl-2 were present in varying degrees in all tested cases. PTEN c.165-1G>A splice site mutation was detected by panel sequencing in one case, and GATA3 P409fs*99 and SETD2 R1708fs*4 in another case. Lymph node metastasis was seen significantly in cases with tumor size >2.0 cm [8/8 (100%) vs. 1/5 (20%)]. All three cases with size >3.0 cm were in unresectable advanced-stage [3/3 (100%) vs. 1/10 (10%)], and two of the three patients succumbed to the disease. The two cases of death revealed mild nuclear atypia (mitosis: 1/10 HPFs) and moderate nuclear atypia (2/10 HPFs). Thus, tumor size would be a better prognostic factor than nuclear atypia, mitotic count, and Ki67 index, unlike in NETs. These clinicopathologic and immunohistochemical features would represent the characteristics as skin adnexal tumors with apocrine/eccrine differentiation rather than NETs; therefore, we rename it as sweat-gland carcinoma with neuroendocrine differentiation (SCAND).


Subject(s)
Carcinoma, Neuroendocrine/pathology , Carcinoma/pathology , Sweat Gland Neoplasms/pathology , Adult , Aged , Aged, 80 and over , Carcinoma/genetics , Carcinoma/mortality , Carcinoma, Neuroendocrine/genetics , Carcinoma, Neuroendocrine/mortality , Female , Humans , Immunohistochemistry , Lymphatic Metastasis/pathology , Male , Middle Aged , Sweat Gland Neoplasms/genetics , Sweat Gland Neoplasms/mortality
2.
Endocr J ; 69(5): 523-528, 2022 May 30.
Article in English | MEDLINE | ID: mdl-34853215

ABSTRACT

Recent progress in paraganglioma (PGL) revealed genotype-phenotype relationship, especially succinate dehydrogenase complex subunit B (SDHB) gene mutation-related to the extra-adrenal origin and metastasis. SDHB-immunohistochemistry can detect all types of SDH-subunit mutations, and is a useful tool to detect SDH-mutation tumors. PGLs usually occur along with sympathetic, and parasympathetic chains, however, colorectal paraganglioma is extremely rare. We have experienced one sigmoid colon PGL and one rectal PGL. These colorectal PGLs: a sigmoid colon PGL measuring 25 mm associated with a gastrointestinal stromal tumor (GIST) of the stomach, and a rectal PGL measuring 75 × 45 mm with elevated norepinephrine level were analyzed by immunohistochemistry for INSM1, chromogranin A, synaptophysin, tyrosine hydroxylase, dopamine-beta-hydroxylase, and SDHB and SDHA. The tumors were strongly positive for above markers, however, negative for SDHB. Both PGLs negative for SDHB immunohistochemistry were defined SDHB-deficient PGLs. Histologic grading of the PGLs by GAPP was well differentiated in sigmoid PGL versus poorly differentiated in rectal PGL. Although these PGLs were the same Stage II of TNM classification, the patient with sigmoid colon PGL had neither recurrence nor metastasis for 5 years after the operation, however, the patient with rectal PGL suffered the recurrent multiple metastases and expired 5 years after the operation. Herein, we compared these colorectal PGLs in regard to the patients' prognostic factors. Patient prognosis with these colorectal PGLs was mostly related to the tumor size and histologic grade under the same situation of SDH-deficiency.


Subject(s)
Colorectal Neoplasms , Paraganglioma , Colorectal Neoplasms/diagnosis , Colorectal Neoplasms/genetics , Humans , Immunohistochemistry , Mutation , Paraganglioma/diagnosis , Paraganglioma/genetics , Paraganglioma/pathology , Repressor Proteins/genetics , Succinate Dehydrogenase/genetics
3.
Am J Dermatopathol ; 43(11): 781-787, 2021 Nov 01.
Article in English | MEDLINE | ID: mdl-33767067

ABSTRACT

ABSTRACT: Distinguishing porocarcinoma from squamous cell carcinoma (SCC) is clinically significant; however, differential diagnosis can often be challenging. This study sought to confirm the diagnostic utility of cytokeratin 19, c-KIT, BerEP4, GATA3, and NUTM1 immunohistochemistry in distinguishing porocarcinoma from SCC. Immunohistochemical analysis of cytokeratin 19, c-KIT, BerEP4, GATA3, and NUTM1 in 14 porocarcinomas and 22 SCCs was performed; the extents and intensities of expression of these markers were recorded. The statistical associations of the immunoexpression between porocarcinoma and SCC were analyzed using the Pearson χ2 test. Cytokeratin 19 was positive in 13 (92.9%) of 14 porocarcinomas, and for all the positive cases, staining was strong and evident in >20% of the tumor cells. By contrast, 9 (40.9%) of 22 SCCs expressed cytokeratin 19 (P = 0.0018), of which 6 showed extremely focal (≤10% of the tumor cells) expression. Of the 14 porocarcinomas, 11 (78.6%) cases showed c-KIT positivity, whereas only 3 of 22 SCCs (13.6%) expressed c-KIT focally (P = 0.0001). In addition, BerEP4 immunostaining differed between porocarcinomas and SCCs (57.1% vs. 9.1%, respectively; P = 0.0017). However, no significant difference between the groups was reported in terms of GATA3 expression (57.1% vs. 72.7%, respectively; P = 0.3336). NUTM1 was expressed in 4/14 (28.6%) porocarcinomas but not in the SCCs. Immunohistochemistry for cytokeratin 19, c-KIT, and BerEP4 could be helpful in distinguishing porocarcinomas from SCCs. In addition, NUTM1 immunoexpression is highly specific, although not sensitive, to porocarcinomas. GATA3 immunohistochemistry has no meaningful implications in the differential diagnosis of porocarcinoma and SCC.


Subject(s)
Carcinoma, Squamous Cell/diagnosis , Carcinoma, Squamous Cell/metabolism , Eccrine Porocarcinoma/diagnosis , Eccrine Porocarcinoma/metabolism , Sweat Gland Neoplasms/diagnosis , Sweat Gland Neoplasms/metabolism , Aged , Aged, 80 and over , Biomarkers, Tumor/metabolism , Diagnosis, Differential , Female , GATA3 Transcription Factor/metabolism , Humans , Immunohistochemistry , Keratin-19/metabolism , Male , Middle Aged , Neoplasm Proteins/metabolism , Nuclear Proteins/metabolism , Proto-Oncogene Proteins c-kit/metabolism
4.
Radiol Case Rep ; 16(3): 736-741, 2021 Mar.
Article in English | MEDLINE | ID: mdl-33510827

ABSTRACT

Granulomatosis with polyangiitis (GPA) manifests as necrotizing granulomatous inflammatory masses in the nasal cavity, paranasal sinuses, and lungs. However, a mass in the kidney is extremely rare. We herein report a case of GPA that presented as a solitary mass in the left kidney. The patient was a man in his 60s. A 2.5-cm solitary mass was incidentally discovered in the left kidney at another hospital and was followed-up. Eight months later, the mass had enlarged, and the patient visited our hospital for further examination and treatment. The mass was hypovascular, with unclear margins on contrast-enhanced computed tomography (CT). The signal of the mass was nonuniform and iso- to slightly hypo-intense on T2-weighted and diffusion-weighted magnetic resonance imaging (MRI). Enlarged para-aortic lymph nodes were also detected on the CT and MRI. Based on imaging, malignant tumors were suspected, and nephrectomy was performed. The pathological diagnosis was GPA. We performed a literature review of this rare renal manifestation and present a summary of reported imaging findings. If a hypovascular renal mass with an unclear margin can be found in those with GPA, unnecessary operations may be avoided by actively promoting renal biopsy.

5.
J Cutan Pathol ; 48(1): 18-23, 2021 Jan.
Article in English | MEDLINE | ID: mdl-32652763

ABSTRACT

BACKGROUND: Histopathologically, scars can mimic superficial fibromatoses. Superficial fibromatoses are known to show nuclear ß-catenin immunoexpression, although the tumor types do not harbor CTNNB1 or APC alterations. This study aimed to evaluate nuclear ß-catenin immunoexpression in scars compared to that in superficial fibromatoses. METHODS: Immunostaining with an anti-ß-catenin antibody, clone 14, was performed on 8 superficial fibromatoses and 22 scars. The extent of ß-catenin nuclear staining was classified as negative (<10%), focally positive (10-49%), or diffusely positive (50-100%). ß-catenin staining intensity was semi-quantitatively graded as weak, moderate, or strong. RESULTS: In 21 (95%) scars, nuclear ß-catenin immunoexpression was detected in fibroblasts/myofibroblasts, with mainly diffuse (16/21) and moderate (14/21) to strong (5/21) staining. In contrast, seven (88%) of the eight superficial fibromatoses expressed ß-catenin in the nuclei of the lesional spindle cells, at varying levels of staining intensity. Fibroblasts in normal papillary dermis always showed nuclear ß-catenin expression to varying degrees but those in the reticular dermis did not. CONCLUSIONS: Scars typically exhibit nuclear ß-catenin expression similar to that in superficial fibromatoses. Thus, ß-catenin immunohistochemistry is not suitable for distinguishing superficial fibromatoses from scars.


Subject(s)
Biomarkers/analysis , Cicatrix/diagnosis , Cicatrix/pathology , beta Catenin/biosynthesis , Cell Nucleus/metabolism , Cicatrix/metabolism , Diagnosis, Differential , Fibroma/diagnosis , Fibroma/metabolism , Fibroma/pathology , Humans , Immunohistochemistry
6.
Gan To Kagaku Ryoho ; 45(8): 1177-1180, 2018 08.
Article in Japanese | MEDLINE | ID: mdl-30158414

ABSTRACT

A 90-year-old woman was referred to our hospital because of dyspnea with pleural effusion that was detected using a chest X-ray. Pleural fluid cell block specimens from the left pleural effusion were shown to be an adenocarcinoma harboring an epidermal growth factor receptor(EGFR)gene mutation(L858R). Erlotinib was administered and the patient responded to treatment for 15 months. Subsequent re-accumulation of the left pleural effusion was detected, and re-evaluation using cell block specimens revealed EGFR T790M mutation positivity. Osimertinib was initiated and the patient responded to treatment for 11 months. Re-evaluation of the left pleural effusion upon failure of osimertinib treatment revealed EGFR T790M mutation negativity. Hence this report summarizes the case of osimertinib therapy being administered to a 90-year-old patient who had EGFR T790M mutation positivity based on a pleural fluid cell block.


Subject(s)
Adenocarcinoma/drug therapy , Adenocarcinoma/genetics , Antineoplastic Agents/therapeutic use , ErbB Receptors/genetics , Lung Neoplasms/drug therapy , Lung Neoplasms/genetics , Mutation , Piperazines/therapeutic use , Pleural Effusion/therapy , Acrylamides , Adenocarcinoma/complications , Adenocarcinoma of Lung , Aged, 80 and over , Aniline Compounds , Female , Humans , Lung Neoplasms/complications , Pleural Effusion/etiology
7.
Diagn Cytopathol ; 44(10): 828-32, 2016 Oct.
Article in English | MEDLINE | ID: mdl-27324529

ABSTRACT

CIC-rearranged undifferentiated small round cell sarcoma (CIC-rearranged USRCS) is a recently established type of Ewing-like small round cell sarcomas, characterized by CIC gene rearrangement, most commonly CIC-DUX4 fusion. This report presents the second case of CIC-rearranged USRCS arising primarily in the cerebrum. A 64-year-old otherwise healthy woman presented with a 1 × 1 cm sized hemorrhagic subcortical tumor in the left temporo-parietal lobe. The tumor repeatedly recurred, and the patient underwent three surgeries, chemotherapy with doxorubicin and ifosfamide, and radiotherapy, as well as gamma knife surgery. Systemic examination revealed no other extracranial masses. Imprint cytology revealed small to moderate-sized round-to-ovoid tumor cells with mild pleomorphism and variations in size and shape. The nuclei contained finely granular chromatin, and some had easily-recognizable nucleoli. The tumor exhibited a mainly cytoplasmic pattern of CD99 immunostaining, rather than a diffuse membranous pattern. The tumor also exhibited diffuse positivity for calretinin and p16, as well as partial positivity for WT1 (nuclear and cytoplasmic staining pattern) and D2-40. FISH assessment showed CIC split signals. In conclusion, CIC-rearranged USRCSs can occur primarily in the cerebrum. It would be impossible to diagnose them through cytology alone, but cytology would be useful to rule out other small round cell brain tumors including gliomas, lymphomas, carcinomas, and germinoma. Immunohistochemical analysis including tests for CD99, calretinin, and WT1 would help to suggest CIC-rearranged USRCSs and distinguish them from Ewing sarcomas. Additionally, immunohistochemistry for p16 might be useful in the diagnosis. Diagn. Cytopathol. 2016;44:828-832. © 2016 Wiley Periodicals, Inc.


Subject(s)
Bone Neoplasms/pathology , Brain Neoplasms/pathology , Cerebrum/pathology , Oncogene Proteins, Fusion/metabolism , Sarcoma, Ewing/pathology , Sarcoma, Small Cell/pathology , 12E7 Antigen/genetics , 12E7 Antigen/metabolism , Biomarkers, Tumor/genetics , Biomarkers, Tumor/metabolism , Bone Neoplasms/diagnostic imaging , Bone Neoplasms/metabolism , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/metabolism , Cerebrum/diagnostic imaging , Cyclin-Dependent Kinase Inhibitor p16 , Diagnosis, Differential , Female , Humans , Middle Aged , Neoplasm Proteins/genetics , Neoplasm Proteins/metabolism , Oncogene Proteins, Fusion/genetics , Sarcoma, Ewing/diagnostic imaging , Sarcoma, Ewing/metabolism , Sarcoma, Small Cell/diagnostic imaging , Sarcoma, Small Cell/metabolism
8.
Am J Dermatopathol ; 38(2): 124-30, 2016 Feb.
Article in English | MEDLINE | ID: mdl-26709973

ABSTRACT

Nonepisodic angioedema with eosinophilia (NEAE) is a rare condition characterized with monoepisodic angioedema, a nonfebrile state, eosinophilia, normal serum IgM levels, and lack of internal organ involvement. The histology of this disease is not yet well known. The purpose of this study was to characterize the histopathologic features of NEAE. Twelve cases of clinically confirmed NEAE were retrieved from 6 institutions, and these cases were reviewed regarding the clinical data and histopathology, particularly regarding granulomatous lesions. The authors demonstrated that the histology of NEAE can be classified into 3 patterns that of eosinophilic granulomatous panniculitis (7/12 cases), eosinophilic dermatitis without granuloma formation (3/12 cases), and invisible dermatosis (2/12 cases). Six of the 7 granulomatous cases showed the characteristic eosinophilic granulomatous lesions containing individual necrotic adipocytes with membranous fat changes, which could be a differential clue to the diagnosis of NEAE. Review of the previously reported cases (n = 37) revealed that the histological classification could be adaptable to these reported cases. The authors should recognize the histological variation of NEAE and distinguish it from the histological mimickers, including eosinophilic granulomatosis with polyangiitis, erythema nodosum, hypereosinophilic syndrome, and episodic angioedema with eosinophilia.


Subject(s)
Angioedema/pathology , Dermatitis/pathology , Panniculitis/pathology , Skin/pathology , Adipocytes/pathology , Angioedema/classification , Biopsy , Dermatitis/classification , Diagnosis, Differential , Eosinophilic Granuloma/classification , Eosinophilic Granuloma/pathology , Fat Necrosis , Humans , Panniculitis/classification , Predictive Value of Tests , Prognosis , Retrospective Studies
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