检测COL1A1-PDGFB融合基因协助诊断萎缩型隆突性皮肤纤维肉瘤

报告1例萎缩型隆突性皮肤纤维肉瘤。患者女,24岁。患者2年前无明显诱因胸部皮肤出现红斑,逐渐变大,中央萎缩。皮肤科检查:胸部一3 cm×4 cm暗紫红色近圆形斑块,表面光滑,中央萎缩,触之质地韧,无凸起包块,无触痛。皮损组织病理检查:表皮轻度乳头瘤样增生,真皮萎缩变薄,真皮及皮下脂肪可见短梭形细胞增生,增生细胞和表皮之间可见肿瘤细胞无浸润带;真皮浅、中层区域肿瘤细胞数目较少,排列稍稀疏,细胞呈波浪状排列,平行于表皮;真皮深部和皮下脂肪层可见密集排列的梭形细胞增生,梭形细胞密集排列呈车幅状、席纹状或束状。免疫组化示肿瘤细胞强阳性表达CD34。采用反转录-聚合酶链式反应(RT-PCR)检测COL1A1-PDGFB融合基因阳性。诊断:萎缩型隆突性皮肤纤维肉瘤。     

以皮肤单核细胞肉瘤为首发表现的急性单核细胞白血病的特征研究

患儿4个月始发病,以额头、四肢皮肤出现多发皮色结节为特征,一般情况好,未触及肝、脾、淋巴结肿大、睾丸无明显异常、牙龈无异常增生。皮损组织病理：表皮大致正常,真皮及皮下弥漫浸润的异形细胞,体积中等偏大,胞质少,核椭圆形,不规则形,染色质细,个别细胞可见核沟及核仁。免疫组化：S-100蛋白阳性,CD68阳性;CD1阴性,Ki-67阳性率40%;CD21阴性,CD4部分细胞弱阳性。髓过氧化物酶（MPO） 阴性,CD56阳性,CD123阳性,CD163阳性。骨髓片见原、幼单核细胞占0.245。诊断：以皮肤单核细胞肉瘤为首发的急性单核细胞白血病。     

髓细胞性白血病皮肤浸润的临床及病理特征

目的 探讨髓细胞性白血病皮肤浸润的临床表现、皮损组织病理及免疫组化特点.方法 分析6例髓细胞性白血病皮肤浸润患者的临床表现、皮损组织病理、免疫组化、实验室检查、治疗及转归.结果 6例中1例以皮肤白血病为首发表现,5例皮肤浸润出现于确诊白血病后的4 ～ 20个月.4例皮疹表现为泛发的红色浸润性丘疹、斑丘疹或结节,2例表现为局部肿物.组织病理示,真皮及皮下脂肪大量肿瘤细胞浸润,免疫组化髓过氧化物酶、CD43、CD45阳性率较高,其他出现阳性的标志物包括CD15、颗粒酶B、白细胞共同抗原、CD68.5例急性髓细胞性白血病均于出现皮肤浸润后60 d至1年内死亡.结论 髓细胞性白血病皮肤浸润一般发生于外周血象与骨髓象改变之后,偶尔也发生于白血病血象和骨髓象改变之前.皮疹常表现为结节或肿物,可局限可泛发,组织病理及免疫组化具有特征性.出现皮肤浸润者生存期短、预后差.     

42例皮肤白血病组织病理研究

皮肤白血病的诊断是根据主要细胞的类型、浸润模式和有关的特征性临床表现和血液学所见,组织化学可能有助于最后确诊。作者对42例皮肤白血病患者皮肤进行了组织病理和组织化学研究,并根据细胞起源分析了白血病浸润的组织病理模式,以探讨是否仅通过活检就可得到白血病型的精确诊断。42例中急性淋巴细胞性白血病(ALL)3例,慢性(CLL)16例:急性粒细胞性白血病(AGL)12例、慢性(CGL)3例;急性单核细胞性白血病(AML)5例;急性髓性单核细胞性白血病(AMML)3例。结果:大体上皮肤白血病真皮和皮下组织有弥漫性的白血病细胞浸润,浸润常常在胶原束之间。表皮     

播散性低分化腺癌并发印戒细胞癌皮肤转移

报告1例播散性低分化腺癌并发印戒细胞癌皮肤转移.患者男,23岁.躯干、头面部、四肢出现黄豆至鸽卵大结节2个半月,无自觉症状.皮损组织病理检查:真皮胶原纤维间及皮下组织内肿瘤细胞弥漫性浸润,真皮胶原纤维被破坏,肿瘤细胞体积较大,胞质略空,并见瘤巨细胞.免疫组化染色示LCA、CK7、CD138均(-),CK20( ).诊断:低分化腺癌并发印戒细胞癌皮肤转移.患者于皮肤转移癌出现后8个月死亡.     

萎缩性隆突性皮肤纤维肉瘤5例临床及组织病理分析

目的:探讨萎缩性隆突性皮肤纤维肉瘤(DFSP)的临床及组织病理特征。方法:对西京皮肤医院确诊的5例萎缩性DFSP进行临床及组织病理学分析。结果:萎缩性DFSP主要表现为缓慢生长的界限清楚的萎缩性斑块,部分皮损可伴有皮下结节或外生性结节。临床上萎缩性DFSP容易误诊,其中4例误诊为硬斑病。萎缩性DFSP组织病理表现为真皮明显变薄,真皮内肿瘤细胞不形成典型的席纹状排列,而是平行于表皮,肿瘤细胞可以不浸润脂肪组织。免疫组化显示肿瘤细胞CD34阳性,CD68、S-100蛋白阴性。结论:相对于经典型DFSP而言,萎缩型DFSP的皮损不呈经典的结节性改变,而是表现为萎缩斑,容易误诊。组织病理表现为真皮萎缩,肿瘤细胞不呈席纹状排列,容易误诊为瘢痕或其他纤维细胞肿瘤。     

皮肤肌纤维瘤

报告1例皮肤肌纤维瘤.患者女,44岁.1年前无明显诱因右肩部出现暗红色皮下结节.皮损渐增大,无任何不适.组织病理检查示真皮内边界相对清楚的结节;增生的肿瘤细胞呈条索状分布于真皮内,可见明显境界带;在肿瘤细胞间见散在的脂肪细胞;肿瘤细胞呈梭形或波纹状,周围有胶原纤维沉积.免疫组化检查显示波形蛋白和肌动蛋白阳性,CD34局灶性阳性,AE1/AE3、S-100蛋白、结蛋白、平滑肌肌动蛋白、上皮膜抗原、CD31均阴性.结合临床、组织病理及免疫组化特点诊断为皮肤肌纤维瘤.     

以皮肤瘀斑为首发症状的母细胞性浆细胞样树突细胞肿瘤2例及临床病理分析

目的报告2例母细胞性浆细胞样树突细胞肿瘤(BPDCN),并进行分析。方法对南昌大学第一附属医院病理科2007年1月-2017年4月收治2例BPDCN进行回顾分析,其中1例为误诊病例。结合文献探讨其临床病理特点。结果两例均为成年女性,以皮肤瘀斑为首发症状就诊。组织病理表现为形态单一的中等大小肿瘤细胞弥漫密集分布于真皮及皮下脂肪组织间,但不侵犯表皮。免疫组化示瘤细胞表达CD123、CD4、CD56、CD43,但CD20、CD3、CD8、TIA-1、粒酶B、Td T、MPO、CD68等均不表达,EB病毒编码RNA(EBER)检测阴性。结论 BPDCN是罕见的淋巴造血系统恶性肿瘤,预后差。常以无特异性的皮肤损害开始,易造成误诊。早期正确诊断极为重要。     

皮肤毛发平滑肌瘤一例

53岁女性患者,左上肢伸侧大量红色丘疹、结节18年。皮损组织病理示:表皮轻度增厚,表皮突不规则向下延伸,基底层黑素增加,真皮浅中层可见境界不清楚的肿瘤细胞浸润,肿瘤细胞呈梭形、胞质嗜酸性,核呈细长梭形、两端钝圆、位于细胞中央,未见异形性及核分裂像;Masson三色染色:肿瘤细胞被染成红色,其间夹杂少量被染成蓝色的胶原纤维;α-SMA染色阳性。诊断:皮肤毛发平滑肌瘤。患者无明显自觉症状,故未行治疗。     

萎缩型隆突性皮肤纤维肉瘤二例北大核心CSCD

报道2例萎缩型隆突性皮肤纤维肉瘤。患者分别为16岁和24岁的男性,临床最初均表现为界限清楚的萎缩型红斑,逐渐在红斑基础上发生结节。病程分别为6年和5年。皮损组织病理检查显示表皮萎缩或正常,肿瘤细胞在真皮浅层呈波浪状排列,平行于表皮;肿瘤细胞在真皮下部呈席纹状、车幅状、编织状排列,并可见肿瘤细胞侵犯皮下脂肪,分割脂肪细胞。肿瘤细胞表达波形蛋白、CD34,不表达CD68和S100蛋白。     

急性髓细胞性白血病(M4型)

报告1例急性髓细胞性皮肤白血病(M4型).患者女,48岁.全身出现丘疹、红色结节14d,伴剧烈瘙痒.体格检查:全身泛发大小不等的红色丘疹、结节,质韧,无压痛.皮损组织病理检查:真皮内弥漫淋巴样细胞浸润,有明显异形及较多核分裂象.免疫组化组织病理检查:CD68阳性(灶性),MPO阳性(少量).骨髓穿刺:白血病细胞大量增生,免疫标记:CD68、CD11b、MPO及HLA-DR均阳性.诊断:急性髓细胞性白血病(M4型).患者经过2次DA(伊达比星、阿糖胞苷)方案化疗后,再次行骨髓穿刺示缓解,但皮损仍有复发.     

Leukemia cutis. A histopathologic study of 42 cases

Biopsy specimens of skin from 42 patients with leukemia cutis were studied. Typing of leukemia was based on histopathologic and histochemical findings in peripheral blood and bone marrow. There were three patients with acute lymphocytic leukemia, 16 with chronic lymphocytic leukemia, 12 with acute granulocytic leukemia, three with chronic granulocytic leukemia, five with acute monocytic leukemia, and three with acute myelomonocytic leukemia. In general, leukemia cutis shows a diffuse infiltration of leukemic cells in the dermis and subcutaneous tissue, often infiltrating between collagen bundles. Extensive involvement and disruption of blood vessels and skin adnexa are characteristic findings in granulocytic, monocytic, and myelomonocytic leukemia cutis, but biopsy specimens of skin in patients with different types of leukemia show a wide range of histopathologic changes that are variable among the various types of leukemia and sometimes even among different patients with the same type of leukemia. A final typing of leukemia should not rely only on regular histopathologic findings of a skin biopsy, but should depend more on morphologic and histochemical studies of smears of peripheral blood or of bone marrow or both.     

Angioinvasive Fusarium and concomitant Enterococcus infection arising in association with leukemia cutis

Leukemia cutis represents the cutaneous infiltration of neoplastic leukocytes or their precursors that results in clinically identifiable skin lesions. For patients with myelodysplastic syndrome, developing such a lesion may indicate impending leukemic transition. These patients are also often immunocompromised, putting them at risk for infection by opportunistic fungal pathogens such as Fusarium. We describe an 85-year-old man with myelodysplastic syndrome who presented with a reddish-purple nodule with a surrounding erythematous plaque on his shin. Histopathologic examination revealed a dense diffuse infiltrate of large atypical cells in the reticular dermis, with ulceration and necrosis. Immunohistochemical studies showed positive staining with CD15, CD68 and myeloperoxidase of constituent large cells. Concurrently, there were branching and septate hyphae with occasional macroconidia-like structures throughout the infiltrate. Cultures from this lesion grew Fusarium and Enterococcus, supporting the diagnosis: leukemia cutis with superinfection involving both Fusarium and Enterococcus. To our knowledge, this is a novel report of two separate infections occurring in a lesion of leukemia cutis. This case shows that in patients with a hematologic malignancy and skin lesions, a high index of suspicion for infection is necessary when reviewing both the clinical and histopathological data to avoid overlooking an important occult infectious agent.     

Six cases of perforating pilomatricoma: Anetodermic changes with expression of matrix metalloproteinases

Perforating pilomatricoma (PP) is a rare clinical variant of pilomatricoma presenting as a crusted or ulcerated nodule. Previous reports have suggested that the tumor cells perforate the epidermis through a process of transepithelial elimination. Here, we report six cases of PP and examine the mechanism of transepithelial elimination in PP. Histologically, the dermis above or around the tumor nest exhibited edema, dilated vascular spaces, sparse collagen bundles and absence of elastic fibers, suggesting anetodermic changes in all cases. Immunohistochemistry demonstrated many CD68-positive macrophages around the tumor nests. Matrix metallopeptidase (MMP)-9 and MMP-12 were expressed in the inflammatory cells and tumor cells, and were also present in the epidermis and fibroblasts in all cases. We speculate that in PP anetodermic change caused by MMP and elastases including MMP-9 and MMP-12 may precede elimination of the tumor.     

Acute Monocytic Leukaemia with Cutaneous Manifestation

A 50‐year‐old Caucasian male presented with generalised skin rash. Gingival hyperplasia and hepatosplenomegaly were also noted. His laboratory data showed hemoglobin of 10.3 g/dL, white blood cell count of 203.6 K/uL and platelet count of 72 K/uL. Peripheral blood smears revealed that 67% of the white blood cells was monoblasts, 25% was promonocytes and atypical monocytes. Bone marrow aspirate smears showed that 97% of the nucleated cells were composed of monoblasts and promonocytes. Approximately 80% of the immature cells showed intense non‐specific butyrate esterase activity. The morphologic and cytochemical findings were compatible with a diagnosis of acute monocytic leukaemia. Skin biopsy taken from the left medial thigh revealed a Grenz zone and a dense infiltrate of atypical cells throughout the dermis. The cells were positive for KP1 (CD68) immunohistochemical stain. The findings were consistent with cutaneous manifestation of leukaemia (leukaemia cutis). The patient's condition deteriorated rapidly despite chemotherapy and expired 10 days after initial presentation. Leukaemia cutis is more common in acute monoblastic/monocytic leukaemia (AMoL) than in other subtypes of leukaemia. Leukaemia gingival hyperplasia is another characteristic feature of AMoL. Dissemination to the skin is generally associated with a poor prognosis.     

萎缩型隆突性皮肤纤维肉瘤二例

报道2例萎缩型隆突性皮肤纤维肉瘤.患者分别为16岁和24岁的男性,临床最初均表现为界限清楚的萎缩型红斑,逐渐在红斑基础上发生结节.病程分别为6年和5年.皮损组织病理检查显示表皮萎缩或正常,肿瘤细胞在真皮浅层呈波浪状排列,平行于表皮;肿瘤细胞在真皮下部呈席纹状、车幅状、编织状排列,并可见肿瘤细胞侵犯皮下脂肪,分割脂肪细胞.肿瘤细胞表达波形蛋白、CD34,不表达CD68和S100蛋白.

Abstract：

Two cases of atrophic dermatofibrosarcoma protuberans (DFSP) are reported.The patients were a 16-year-old and a 24-year-old boy with a clinical course of 6 and 5 years respectively.The lesions began as well-marginated atrophic erythema,and subcutaneous nodules appeared gradually on the erythema.Histopathology showed atrophic or normal epidermis,wavy arrangement of tumor (spindle) cells in the superficial dermis which was aligned parallel to the epidermis,storiform arrangement of tumor cells in the lower dennis,and typical lacelike pattern of infiltration of subcutaneous fat tissue with tumor cells.Immunohistochemistry showed that the tumor cells stained positive for vimentin and CD34,but negative for S100 or CD 68.     

Clinical and pathological features of myeloid leukemia cutis

BackgroundMyeloid leukemia cutis is the terminology used for cutaneous manifestations of myeloid leukemia.ObjectiveThe purpose of this study was to study the clinical, histopathological and immunohistochemical features of myeloid leukemia cutis.MethodsThis was a retrospective study of clinical and pathological features of 10 patients with myeloid leukemia cutis.ResultsOne patient developed skin lesions before the onset of leukemia, seven patients developed skin infiltration within 4-72 months after the onset of leukemia, and two patients developed skin lesions and systemic leukemia simultaneously. Of these patients, five presented with generalized papules or nodules, and five with localized masses. The biopsy of skin lesions showed a large number of tumor cells within the dermis and subcutaneous fat layer. Immunohistochemical analysis showed strong reactivity to myeloperoxidase (MPO), CD15, CD43 and CD45 (LCA) in most cases. NPM1 (nucleophosmin I) and FLT3-ITD (Fms-like tyrosine kinase 3-internal tandem duplication) mutations were identified in one case. Five patients with acute myelogenous leukemia and one patient with chronic myelomonocytic leukemia died within two months to one year after the onset of skin lesions.Study limitationsThis was a retrospective and small sample study.ConclusionsIn patients with myelogenous leukemia, skin infiltration usually occurs after, but occasionally before, the appearance of hemogram and myelogram abnormalities, and the presence of skin infiltration is often associated with a poor prognosis and short survival time. myeloid leukemia cutis often presents as generalized or localized nodules or masses with characteristic pathological and histochemical findings.     

Aleukemic leukemia cutis presenting as benign-appearing exanthema.

Aleukemic leukemia cutis is a rare condition characterized by the infiltration of the skin by leukemic cells before their appearance in the peripheral blood or bone marrow. We report here a 62-year-old seemingly healthy patient who presented with disseminated erythematous maculae. A skin biopsy showed leukemia cutis of monocytic type. No involvement of bone marrow or peripheral blood was found. The patient developed acute monocytic leukemia 7 months later. We present this case to illustrate how leukemia cutis can masquerade as a clinically benign-appearing cutaneous eruption without leukemic changes in blood or bone marrow. To confirm the diagnosis of aleukemic leukemia cutis, immunohistochemistry of the skin lesions as well as a complete staging procedure is necessary.     

以皮损为首发表现的淋巴母细胞淋巴瘤/白血病六例临床病理分析

目的 探讨以皮损为首发表现的淋巴母细胞淋巴瘤/白血病的临床、组织病理表现及免疫组化特点.方法 分析中国医学科学院皮肤病医院2012-2015年诊断的6例以皮损为首发表现的淋巴母细胞淋巴瘤/白血病的临床和组织病理特点.结果 6例患者中男4例、女2例;儿童和青年4例,成人2例.中位发病年龄13.5岁,平均病程8.5个月.皮损表现为单发(1例)或多发(5例)结节或浸润性斑块,组织病理学表现为真皮及皮下脂肪内形态单一、中等大小、胞质较少、染色质细腻的淋巴样细胞增生,可见小核仁,无亲表皮现象,1例可见星空现象.2例免疫学表型符合B淋巴母细胞淋巴瘤,2例符合T淋巴母细胞淋巴瘤,2例呈现T、B双系表型.该病治疗困难,1例患儿在化疗后获缓解,2例患者在接受化疗后皮损部分改善.结论 皮损表现和组织学无法区别B和T淋巴母细胞淋巴瘤,只有通过免疫表型进行鉴别,早期骨髓及影像学检查尤为重要.