Leiomyosarcoma of the head and neck: a clinicopathological study

AIMS: The behaviour of leiomyosarcoma is site-related and there are few data on such tumours located in the head and neck. We studied the clinicopathological features of these lesions. METHODS AND RESULTS: Cases diagnosed as leiomyosarcoma of the head and neck were retrieved from the archives of three institutions. Immunohistochemistry was performed and follow-up information was obtained. There were seven men and six women, aged 21-73 years, and lesions involved the neck (n=3), maxilla (n=4), buccal area (n=3), and maxillary sinus, nose, and pharynx (n=1 each). Tumours ranged from 10 to 80 mm. All tumours showed at least focally typical histological features of leiomyosarcoma with perpendicularly arranged fascicles of smooth muscle cells with blunt-ended nuclei, eosinophilic cytoplasm and paranuclear vacuoles. They expressed muscle-specific actin (8/9), smooth muscle actin (7/9), and desmin (10/12). Follow-up information was available on nine patients. All had surgery, with radiation and/or chemotherapy in seven. Three (27%) recurred at 6-24 months; in one case twice. Five (56%) had metastases, including the three with prior recurrences at 1-128 months. Five (including two who received adjuvant therapy) were disease-free at a median of 47 months, one was alive with metastatic disease at 24 months), and three were dead of disease (median 13 months). CONCLUSIONS: Head and neck leiomyosarcomas are rare and aggressive neoplasms which metastasize. Adjuvant therapy has limited effect.     

Head and neck rhabdomyosarcoma: follow-up results of four cases and review of the literature

Head and neck rhabdomyosarcoma (HNRMS) is exceedingly rare and poorly documented. The difficult diagnosis often causes a poor prognosis and high mortality. Hence, we report 4 cases of HNRMS and their follow-up outcomes, and review the clinicopathological features of this rare tumor. The 4 patients ranged in age from 5 to 29 years. Among them, 3 patients had a good prognosis after combination of radiotherapy and chemotherapy or surgery alone. Another patient survived for only 3 months after diagnosis without therapy. Deeply insight into HNRMS might improve the ability of diagnosis and treatment for this disease.     

Relevance of apparent diffusion coefficient features for a radiomics-based prediction of response to induction chemotherapy in sinonasal cancer

In this paper, several radiomics-based predictive models of response to induction chemotherapy (IC) in sinonasal cancers (SNCs) are built and tested. Models were built as a combination of radiomic features extracted from three types of MRI images: T1-weighted images, T2-weighted images and apparent diffusion coefficient (ADC) maps. Fifty patients (aged 54 ± 12 years, 41 men) were included in this study. Patients were classified according to their response to IC (25 responders and 25 nonresponders). Not all types of images were acquired for all of the patients: 49 had T1-weighted images, 50 had T2-weighted images and 34 had ADC maps. Only in a subset of 33 patients were all three types of image acquired. Eighty-nine radiomic features were extracted from the MRI images. Dimensionality reduction was performed by using principal component analysis (PCA) and by selecting only the three main components. Different algorithms (trees ensemble, K-nearest neighbors, support vector machine, naïve Bayes) were used to classify the patients as either responders or nonresponders. Several radiomic models (either monomodality or multimodality obtained by a combination of T1-weighted, T2-weighted and ADC images) were developed and the performance was assessed through 100 iterations of train and test split. The area under the curve (AUC) of the models ranged from 0.56 to 0.78. Trees ensemble, support vector machine and naïve Bayes performed similarly, but in all cases ADC-based models performed better. Trees ensemble gave the highest AUC (0.78 for the T1-weighted+T2-weighted+ADC model) and was used for further analyses. For trees ensemble, the models based on ADC features performed better than those models that did not use those features (P < 0.02 for one-tail Hanley test, AUC range 0.68–0.78 vs 0.56–0.69) except the T1-weighted+ADC model (AUC 0.71 vs 0.69, nonsignificant differences). The results suggest the relevance of ADC-based radiomics for prediction of response to IC in SNCs.     

Seromucinous hamartomas: a clinicopathological study of a sinonasal glandular lesion lacking myoepithelial cells

Aims:  To describe seven cases of sinonasal seromucinous hamartoma.
Materials and results:  The clinicopathological and immunohistochemical features of seven seromucinous hamartomas were analysed. There were four men and three women. Six lesions involved the posterior nasal septum and one the lateral wall. Size ranged from 6 to 40 mm. Four patients had no recurrences. One patient had local recurrences 24 and 60 months after diagnosis. The masses were covered by respiratory epithelium. Their stroma was oedematous to fibrous and contained invaginated respiratory epithelium forming glands and cysts, cysts with cuboidal to flat epithelium, and small serous glands, ducts and tubules with lobular and irregular haphazard patterns. One case had numerous glands surrounded by hyalinized basement membrane with features of respiratory epithelial adenomatoid hamartoma (REAH). One case had focal REAH-like changes. Both respiratory and serous components were positive for cytokeratin (CK) 7 and CK19. The serous component lacked myoepithelial cells when stained for CK14, p63, calponin and muscle-specific antigen in five cases.
Conclusions:  Seromucinous hamartomas show a broader histopathological appearance than previously reported. The serous proliferation in these lesions lacks myoepithelial cells. The presence of occasional REAH-like features and common location in the posterior nasal septum suggest a spectrum from pure seromucinous hamartoma to REAH.     

Intranasal pericytic tumors (glomus tumor and sinonasal hemangiopericytoma-like tumor): report of two cases with review of the literature

An intranasal glomus tumor and a sinonasal hemangiopericytoma-like tumor are reported. Both patients were elderly women suffering from nasal bleeding, and presented with a polypoid mass arising in the nasal septum. Microscopically, the glomus tumor displayed a proliferation of uniform rounded or cuboidal epithelioid cells arranged in sheets and interrupted by a rich vasculature with a characteristic configuration mimicking the normal glomus bodies, while the sinonasal hemangiopericytoma-like tumor featured a perivascular proliferation of spindle- to oval-shaped cells that were arranged in short fascicles. Both tumors shared immunohistochemical features supporting their myoid differentiation by the expression of vimentin, alpha-smooth muscle actin and muscle-specific actin, albeit with no immunoreaction to desmin. Both the intranasal glomus tumor and sinonasal hemangiopericytoma-like tumor are characterized by a perivascular growth pattern and myoid differentiation, having a close relation to the 'perivascular myomas', which was recently designated.     

Primary choriocarcinoma of the liver: a clinicopathological study of five cases in males

Primary choriocarcinomas of the liver are rare. Previous reported cases were mostly in infants with only rare adult cases. Here, we presented five adult cases. The patients were all males, with an average age of 41.6 years (from 36 to 48 years). Clinical presentations included right upper abdominal pain or abdominal distension. All patients presented with a large hepatic mass on ultrasonography that measured 11 cm on average in the greatest diameter. Elevated serum human chorionic gonadotropin (HCG) levels were noted in all cases. At presentation, the tumor was confined to the liver in two patients and therefore surgically resected. The other three patients presented with extrahepatic metastases on imaging study and therefore only received chemotherapy. All five patients died from the tumor within 2 to 8 months. Autopsy was performed for all five cases. The autopsy confirmed that the choriocarcinoma was confined to the liver in two surgically resected cases. The other three patients had metastatic choriocarcinoma in the lung (two patients), peritoneum (one patient), adrenal glands (one patient), and brain (one patient). None of the patients had any evidence of a testicular tumor or scar after examination of the entirely submitted testes. No tumor was observed in central nervous system, mediastinum, or other organs other than described above. Grossly, the primary tumors were large, soft, hemorrhagic, and with foci of necrosis. Histologically, the tumors were composed of mononucleated trophoblastic cells with round nuclei, clear cytoplasm, and prominent nucleoli admixed with large, multinucleated syncytiotrophoblastic cells. Immunohistochemically, tumor cells were strongly positive for keratin, HCG, and focally positive for human placental lactogen. Ki-67 proliferation index was high (mean 75%) in the mononucleated trophoblastic cells. Our series is the largest one to document primary hepatic choriocarcinoma in adults. Although these tumors are rare, they behave in a very aggressive fashion.     

腹膜浆液性乳头状腺癌4例并临床病理分析

目的探讨腹膜浆液性乳头状腺癌(peritoneal papillary serous carcinoma,PPSC)的临床病理学特征、免疫表型、鉴别诊断及预后。方法对4例PPSC行免疫组化SP法染色及HPV检测,并复习相关文献。结果 4例PPSC均为女性,年龄23~62岁,平均51岁。临床表现多为无特异性的腹部不适,CA125升高,影像学表现为腹腔肿块。镜下肿瘤细胞形成形态不一、大小不等的乳头状结构;肿瘤细胞为低柱状,核质比大,核圆形,核仁大,异型性明显,核分裂象易见。腺体及间质内可见砂砾体。免疫表型:肿瘤细胞CA125、WT1、CK7、p53、CEA、p16均呈阳性,部分肿瘤细胞表达CK5/6、ER、PR;不表达GCDFP-15、CR、D2-40、CK20、Villin、CDX2、TTF1;HPV检测阴性。结论 PPSC是一种少见的原发于腹膜的恶性肿瘤,临床误诊率高,依据其临床和病理组织学特点,结合免疫组化染色可以明确诊断。     

孤立性支气管乳头状瘤的临床病理特点

目的探讨孤立性支气管乳头状瘤(solitary bronchial papilloma,SBP)的临床病理特点、诊断要点及与人乳头状瘤病毒(human papilloma virus,HPV)的感染情况。方法对4例SBP标本进行组织病理学观察和HPV总、HPV16及HPV6/11的检测,并复习临床资料及相关文献。结果1例老年女性患者肿瘤位于主支气管,为鳞状细胞乳头状瘤,灶性癌变,伴微浸润。3例为混合性鳞状细胞和腺性乳头状瘤,2例伴中度不典型增生,发病年龄25～73岁(平均54岁)。肿瘤位于主支气管及段支气管,纤维血管轴心周围被覆复层非角化鳞状上皮及柱状上皮。4例均呈外生性生长,1例伴内翻性生长。HPV检测均为阴性。结论SBP是发生在成人的一种罕见肺肿瘤,个别病例在鳞状上皮出现异型性的基础上可以发生癌变。建议外科手术完整切除病变,全面观察,以防误诊和漏诊。     

Thymoma in childhood: a clinicopathological study of five cases

The histological and clinical findings in five cases of thymoma arising in paediatric patients have been studied. The age range was 11-15 years and no patient was affected by myasthenia gravis. All tumours were macroscopically encapsulated, but two of them displayed evidence of microscopic capsular invasion. Histologically, four cases were of the predominantly cortical type (organoid thymoma) with prominent areas of medullary differentiation and Hassall's bodies; one case was of the cortical type. All patients are alive and disease-free 3 months to 9 years after surgery. These findings suggest that thymoma in the paediatric age group may be characterized by fairly uniform clinicopathological features, with a low rate of association with myasthenia gravis and a favourable prognosis.     

Immunohistochemical study on ADAM33 in sinonasal inverted papillomas and squamous cell carcinomas of the larynx

Introduction

ADAM33 protein is a member of the family of transmembrane glycoproteins composed of multidomains. Members of the ADAM family have different activities, such as proteolysis and adhesion, making them good candidates to mediate the extracellular matrix remodeling and changes in cellular adhesion that characterize certain pathologies and cancer development.

Material and methods

The immunohistochemical method was used to examine the immunoexpression of ADAM33 in 39 formalin-fixed, paraffin-embedded tissue specimens of sinonasal inverted papillomas (IP), 44 laryngeal squamous cell carcinomas (GI grade = 11, GII grade = 33) and 14 disease-free tissue specimens as a control.

Results

The immunoexpression of ADAM33 was localized in the epithelial cells, mesenchymal cells of the vessels and infrequently in the stromal cells. The majority of the ADAM33 was localized intracellularly, although membrane immunoexpression was also noted. All epithelial and vascular staining scores were found to be significantly increased in GI and GII grades of laryngeal cancer compared with controls (p < 0.001) and IP (p < 0.001). No statistically significant differences were found in immunoexpression of ADAM33 between GI and GII tumors. The immunoexpression of ADAM33 was significantly higher in IP patients than in controls (p < 0.02).

Conclusions

Our findings suggest that ADAM33 could potentially contribute to tumorigenesis of the laryngeal and sinonasal region.     

Primary malignant fibrous histiocytoma (myxofibrosarcoma/pleomorphic sarcoma not otherwise specified) of the breast: clinicopathologic study of 19 cases

We present 19 cases of primary breast malignant fibrous histiocytoma (MFH) or myxofibrosarcoma/pleomorphic sarcoma not otherwise specified, the largest series to date, and compare our results with those in the literature to better define MFH in this anatomical location. Twenty-seven cases (MFH, myxofibrosarcoma, or pleomorphic sarcoma not otherwise specified) were reviewed using World Health Organization and French Federation of Cancer Centers criteria. Inclusion required location within breast parenchyma without extensive chest wall involvement. Morphological features were recorded, and immunohistochemistry was applied. Clinical data were extracted from patients' medical records. Clinically, there was 1 male patient. Of 15 patients with follow-up, 5 (33% overall) died of disease within an average of 7 months after diagnosis. Distant metastases and older patient age were associated with poor survival. Storiform-pleomorphic subtype was most common (10/19) with myxofibrosarcoma (6/19) and giant cell subtype (1/19) also observed. Unique lymphocyte-rich (1/19) and pleomorphic hyalinizing angiectatic tumor–like (1/19) morphologies are presented. Immunohistochemistry demonstrated expression of CD68 (71%), focal smooth muscle actin (36%), with rare focal estrogen and progesterone receptor immunoreactivity. All cases were negative for CD34, S-100 protein, desmin 33, and keratins, including CK7, CK20, CK5/6, and CK18. Malignant fibrous histiocytoma occurs as a primary lesion in breast parenchyma. Attention to morphological detail and immunohistochemistry avoids misdiagnosis. Entrapped breast ductal epithelium should not be misinterpreted as the epithelial component of a biphasic tumor. A florid lymphoid response should not be confused with metaplastic carcinoma. Pleomorphic hyalinizing angiectatic tumor–like features may be observed in MFH. Our study confirms the presence of MFH in breast and presents unique morphological observations of primary breast MFH.     

涎腺导管癌5例临床病理分析

目的 探讨涎腺导管癌(salivary duct carcinoma,SDC)的临床病理特征、诊断和鉴别诊断、治疗及其预后.方法 回顾性分析5例 SDC 的临床资料、病理学形态和免疫组织化学标记结果.结果 (1)SDC好发于老年男性,平均发病年龄64.6岁,主要见于腮腺,生长迅速,易侵犯神经,常发生转移.(2)组织学特点与乳腺导管癌极为相似.肿瘤细胞向导管内生长,形成乳头状、筛孔状、实性等多种结构,并可形成粉刺样坏死,肿瘤向周围组织浸润生长是其显著特征.(3)免疫组化结果显示肿瘤细胞CK、EMA、CEA、GCDFP-15、c-erbB-2、p53均阳性,Ki-67增殖指数较高,ER、PR在部分病例呈散在阳性表达,而PSA、CD117、p63、S-100、CD10、GFAP均阴性.(4)随访资料显示SDC具有较差的预后.该组5例中,3例复发,1例转移.结论 SDC是一种高度恶性的涎腺肿瘤,组织形态类似乳腺导管癌.对该肿瘤确诊主要依赖于病理形态特征与免疫组化结果相结合,且需要和其他肿瘤如低度恶性筛状囊腺癌、黏液表皮样癌、实性腺样囊性癌、腺泡细胞癌、乳头状囊腺癌、多形性低度恶性腺癌、上皮-肌上皮癌等鉴别.     

肺淋巴管平滑肌瘤病临床病理特征观察及文献复习

目的探讨肺淋巴管平滑肌瘤病(pulmonary lymphangioleiomyomatosis，PLAM)组织学、免疫组化及预后特点。方法对2例PLAM经支气管肺活检组织，进行组织学观察及免疫组化检测，并复习文献进行研究。结果2例PLAM均为育龄期女性。本病具有一定的形态学和免疫组化特征，肺淋巴管、血管和小气道周围异常平滑肌细胞弥漫性增生，分两种类型：囊肿为主型和平滑肌为主型。2例组织形态学相似，异常平滑肌细胞呈梭形，多边形及上皮样，核大，不规则多形性，可见核仁和核内包涵体，未见核分裂象。免疫组化梭形、多边形及上皮样细胞表达HMB45、SMA、actin和ER、PR阳性。结论PLAM是罕见的肺慢性进行性恶化的肿瘤性疾病。PLAM病理组织学评分(LAM histologic score．LHS)是评价PLAM预后的指标。依据临床和组织学特点，结合免疫组化染色可以作出明确诊断。     

Primary mucosal CD30-positive T-cell lymphoproliferative disorders of the head and neck rarely involving epiglottis: clinicopathological,immunohistomchemical and genetic features of a case

A case of primary mucosal CD30-positive T-cell lymphoproliferative disorder of the head and neck rarely involving epiglottis in a 59-year-old male was reported. Histologically, the ulcerative mucosa was affected by sheets of mixed inflammatory infiltration, with scattered large atypical lymphoid cells arranging in an individual or small clusters with focal epidermotropism. Immunohistochemically, tumor cells were uniformly immunoreactive to antibodies against CD2, CD3, CD7, CD43, CD4, TIA-1, with a heterogeneous expression of CD30, but negative for CD20, CD79a, CD21, CD8, CD56, ALK, EMA, granzyme B. Epstein-Barr virus encoded RNA (EBER) were detected. Genetically, T-cell receptor (TCR) γ gene showed an oligoclonal rearrangement. This first case developing in epiglottis demonstrates mucosal CD30-positive T-cell lymphoproliferative disorders are characteristic of a broad clinicopathologic spectrum similar to the counterpart in the skin with a favorable prognosis.