Category Archives: Neck

Thompson LDR, Gagan J, Washington A, Miller RT, Bishop JA.

Head Neck Pathol. 2020 Dec;14(4):884-888. doi: 10.1007/s12105-020-01132-4. Epub 2020 Feb 5.

Ectopic hamartomatous thymoma is a rare neck lesion originally thought to represent a non-neoplastic hamartoma, even though thymic origin has been questioned, and there is uncertainty about whether the lesion is a neoplasm. We investigated the genetics by performing targeted next generation sequencing (NGS). Three cases were identified from the authors’ consultation files. A custom, targeted NGS panel including 1385 pan-cancer‐related genes was performed on all cases. Three patients included 2 males and 1 female, aged 50, 58 and 70 years, respectively (mean 59.3 years), with tumors arising in the low anterior neck. All cases showed classical histologic features of EHT, with one case showing intraductal carcinoma in association with the EHT. By targeted NGS, one case harbored a hotspot HRAS mutation (p.Gln61Lys), while the other two cases only showed non oncogenic variants. Dual mesoderm and endoderm derivation/differentiation (biphenotypic) has been previously recognized, with epithelial and myoepithelial components, and arising from the apparatus contributing to neck development (branchial apparatus). Thus, EHT has been shown to have genetic alterations in HRAS. These findings, without evidence of thymic derivation or an ectopic tissue location, strongly support that EHT is a true neoplasm. The name biphenotyic branchioma more correctly reflects the true nature of this dual mesoderm and endoderm derived tumor occurring in the lower neck.

PubMed ID: 32026292

Article Size: 2 MB

Sato K, Thompson LDR, Miyai K, Kono T, Tsuda H.

Head Neck Pathol. 2018 Jun;12(2):202-209.

Ectopic hamartomatous thymoma (EHT) is a rare benign neoplasm of the lower neck suggesting branchial origin. Despite use of the term thymoma in the nomenclature, there is no evidence of thymic origin or differentiation. It affects middle-aged adults with a remarkable male predominance. To date less than 80 cases have been reported in the English literature. We present here two additional cases of EHT. The first is a benign case in a 31-year-old man, showing typical histological features. The second is a malignant case in a 70-year-old woman, showing intraductal carcinoma arising in intimate association with an EHT. These cases are presented in the context of a review of cases reported in the English literature. The exact origin has not been identified, but is considered to be of branchial apparatus, creating a quandary about the best terminology. Recently, the designation “branchial anlage mixed tumor” or “thymic anlage tumor” were proposed, but do not quite reflect the true nature of the neoplasm. To avoid taxonomic confusion, international consensus on terminology is desired. As this entity is a neoplasm that shows dual mesoderm and endoderm derivation/differentiation, we propose a new name “biphenotypic branchioma.”

PubMed ID: 28879635

Article Size: 2 MB

 

Thompson LD, Fisher SI, Chu WS, Nelson A, Abbondanzo SL.

Am J Clin Pathol. 2004 May;121(5):727-38.

We retrospectively analyzed 45 cases of HIV-associated Hodgkin lymphoma (HIV-HL). HIV-HL generally is a disease of young white men (mean age, 40.1 years) who acquired HIV infection by homosexual or bisexual behavior (68%), intravenous drug use (24%), and/or blood transfusion (8%). The mean interval between the diagnosis of HIV and HIV-HL was 5.2 years. Morphologic classification of nodal biopsy specimens (2001 World Health Organization criteria) included 15 mixed cellularity Hodgkin lymphomas (MCHLs), 14 nodular sclerosis Hodgkin lymphomas (NSHLs), 9 lymphocyte depleted Hodgkin lymphomas (LDHLs), and 7 classic Hodgkin lymphomas, type not further categorized. The Hodgkin-Reed-Sternberg (HRS) cells expressed positive immunoreactivity with fascin (30/30 [100%]), CD30 (35/37 [95%]), CD15 (32/36 [89%]), bcl-X(L) (25/31 [81%]), bcl-2 (15/29 [52%]), CD20 (4/34 [12%]), bcl-6 (3/28 [11%]), and Epstein-Barr virus latent membrane protein-1 (32/33 [97%]) and were nonreactive for CD138/syndecan-1. CD4 and CD8 immunostaining showed an inverted CD4/CD8 ratio (<1/20) in all cases. At diagnosis, most patients (n = 27) had high-stage disease (IV(E)) associated with an aggressive course (16% 5-year survival). LDHL behaved more aggressively than MCHL and NSHL (15% vs 40%, 5-year survival, respectively), as did disease with a sarcomatoid pattern (11% 5-year survival). Chemotherapy and radiotherapy proved efficacious in a minority of these patients.

PubMed ID: 15151213

Article Size: <1 MB

 

Bradová M, Thompson LDR, Hyrcza M, Vaněček T, Grossman P, Michal M Jr, Hájková V, Taheri T, Rupp N, Suster D, Lakhani S, Nikolov DH, Žalud R, Skálová A, Michal M, Agaimy A.

Virchows Arch. 2024 Jan;484(1):103-117. doi: 10.1007/s00428-023-03697-1.

Branchioma is an uncommon benign neoplasm with an adult male predominance, typically occurring in the lower neck region. Different names have been used for this entity in the past (ectopic hamartomatous thymoma, branchial anlage mixed tumor, thymic anlage tumor, biphenotypic branchioma), but currently, the term branchioma has been widely accepted. Branchioma is composed of endodermal and mesodermal lineage derivatives, in particular epithelial islands, spindle cells, and mature adipose tissue without preexistent thymic tissue or evidence of thymic differentiation. Twenty-three branchiomas were evaluated morphologically. Eighteen cases with sufficient tissue were assessed by immunohistochemistry, next-generation sequencing (NGS) using the Illumina Oncology TS500 panel, and fluorescence in situ hybridization (FISH) using an RB1 dual-color probe. All cases showed a biphasic morphology of epithelial and spindle cells with intermingled fatty tissue. Carcinoma arising in branchioma was detected in three cases. The neoplastic cells showed strong AE1/3 immunolabeling (100%), while the spindle cells expressed CD34, p63, and SMA (100%); AR was detected in 40-100% of nuclei (mean, 47%) in 14 cases. Rb1 showed nuclear loss in ≥ 95% of neoplastic cells in 16 cases (89%), while two cases revealed retained expression in 10-20% of tumor cell nuclei. NGS revealed a variable spectrum of likely pathogenic variants (n = 5) or variants of unknown clinical significance (n = 6). Loss of Rb1 was detected by FISH in two cases. Recent developments support branchioma as a true neoplasm, most likely derived from the rudimental embryological structures of endoderm and mesoderm. Frequent Rb1 loss by immunohistochemistry and heterozygous deletion by FISH is a real pitfall and potential confusion with other Rb1-deficient head and neck neoplasms (i.e., spindle cell lipoma), especially in small biopsy specimens.

PubMed ID: 37962685

Article Size: 4.2 MB

Chen H, Thompson LD, Aguilera NS, Abbondanzo SL.

Am J Surg Pathol. 2004 Apr;28(4):505-13.

Kimura disease is a rare form of chronic inflammatory disorder involving subcutaneous tissue, predominantly in the head and neck region and frequently associated with regional lymphadenopathy and/or salivary gland involvement. This condition has a predilection for males of Asian descent and may clinically simulate a neoplasm. Kimura disease is sometimes confused with angiolymphoid hyperplasia with eosinophilia, which occurs in the superficial skin of the head and neck region. Although sporadic cases have been reported in non-Asians, there is no large, comprehensive study of Kimura disease in the United States. We report 21 cases with nodal involvement that, histologically, are consistent with Kimura disease. There were 18 males and 3 females (male/female ratio 6:1), 8 to 64 years of age (mean, 32 years), and included 7 Caucasians, 6 Blacks, 6 Asians, 1 Hispanic, and 1 Arabic. Anatomic sites of involvement included posterior auricular (n = 10), cervical (n = 6), inguinal (n = 3), and epitrochlear (n = 2) lymph nodes, with two patients having associated salivary gland involvement. Most (n = 16) cases had peripheral blood eosinophilia. Consistent histologic features were follicular hyperplasia, eosinophilic infiltrates, and proliferation of postcapillary venules. Follow-up data on 18 patients revealed that 13 were alive without disease (3 had recurrence), mean follow-up, 10.9 years; 4 were alive with disease (2 had a recurrence), mean follow-up, 8.8 years; and 1 died with disease (12.7 years). Kimura disease has been described more often in Asians, but it does occur in non-Asians with a similar clinicopathologic presentation. It is a distinctive entity with no known etiology. Kimura disease has characteristic histologic features that are important to recognize and can be used to differentiate it from hypersensitivity and drug reactions and infections.

PubMed ID: 15087670

Article Size: 4 MB

 

Franchi A, Thompson LDR, Hernandez-Prera JC, Agaimy A, Williams MD, Mikkelsen LH, Bishop JA, Willems SM, Hellquist H, Ferlito A.

Adv Anat Pathol. 2021 May 1;28(3):139-149. doi: 10.1097/PAP.0000000000000295.

Bone and soft tissue tumors of the head and neck are relatively uncommon tumors that often represent a diagnostic challenge because of the wide range of entities that must be considered in the differential diagnosis. Over the past few years, classification of bone and soft tissue tumors has evolved primarily because of substantial contributions from molecular genetics, with the identification of new markers that are increasingly used to complement histopathologic findings in the routine diagnostic workup. This review focuses on the recently described mesenchymal tumors that preferentially involve the head and neck region, with a focus on the most relevant novel immunohistochemical and molecular findings, including gene fusions and mutations, that can help in the diagnosis and in the assessment of clinical behavior.

PubMed ID: 33559990

Article Size: 1.1 MB

Tadros M, Rizk SS, Opher E, Thompson LD.

Ann Diagn Pathol. 2003 Jun;7(3):165-8.

Polymorphous hemangioendotheliomas are rare, low-grade borderline malignant vascular tumors of endothelial cell origin. To the best of our knowledge (MEDLINE 1966-2002), there have been nine cases of polymorphous hemangioendothelioma reported in the English literature. Most of the initial patients reported were men, but we present the third case in a woman. Her previous radiation history to the neck makes this report unique. Polymorphous hemangioendothelioma is characterized by the variety of patterns of growth within and between tumors, making histologic recognition of the tumor difficult. Because management remains conservative via wide local excision, the misdiagnosis of this lesion as a malignancy has possible treatment implications. Alternatively, the high propensity for local recurrence underscores the necessity for accurate classification of the neoplasm and close clinical follow-up.

PubMed ID: 12808568

Article Size: <1 MB

 

Cowan ML, Thompson LD, Leon ME, Bishop JA.

Head Neck Pathol. 2016 Jun;10(2):161-6.

Low-grade fibromyxoid sarcoma (LGFMS) is a deceptively bland malignancy with potential for late recurrence and metastasis, which usually occurs in the deep soft tissues of the extremities and trunk. Most LGFMSs harbor a characteristic gene fusion of FUS-CREB3L2, and recently MUC4 immunostaining has been found to be highly sensitive and specific for the diagnosis. We present a dedicated series of head and neck LGFMS, including the first reported laryngeal case, as well as a review of reported head and neck cases. The surgical pathology archives of our three institutions were searched for cases of LGFMS arising within the head and neck, and four cases were identified. The H&E slides were reviewed, and immunohistochemistry were performed for pancytokeratin, p63, p40, EMA, S100 protein, β-catenin, actin, CD34, and MUC4. The patients were 6, 43, 45, and 73 years old (mean 41.8 years) and included three males and one female. The tumors were located in the posterior cervical spine, facial skin, mandible, and larynx. The tumors were treated with surgical excision, and all four had histologic features typical for LGFMS including alternating myxoid and fibrous areas with prominent curvilinear vasculature. All tumors were MUC4 positive (100%), 2/4 (50%) were p63 positive, 1/4 (25%) showed focal EMA positivity; all 4 were negative for pancytokeratin, p40, S100 protein, β-catenin, actin, and CD34. LGFMS is a low grade sarcoma that rarely develops in the head and neck. Due to its rarity, a pathologist may not consider LGFMS in the differential diagnosis of spindle cell neoplasms within the head and neck. Immunohistochemical staining is helpful, but stains should be selected carefully to avoid misdiagnosis.

PubMed ID: 26276044

Article Size: 1.4 MB

 

Thompson LD.

Ear Nose Throat J. 2004 Nov;83(11):740.

FIRST PARAGRAPH: A developmental alteration of the branchial clefts or pouches can result in cysts, sinuses, and/or fistulas. A branchial cleft cyst is a congenital abnormality usually located in the lateral neck along the anterior portion of the sternocleidomastoid muscle; it can also involve the ear and parotid salivary gland. There is no sex preference, and although the lesion usually presents clinically in young patients, older patients are occasionally affected as well. The cysts are typically nontender masses that may become secondarily inflamed or infected, which often brings them to clinical attention. Bilateral masses are associated with an increased likelihood of a syndrome.

PubMed ID: 15628626

Article Size: <1 MB

Thompson LD.

Ear Nose Throat J. 2011 January;90(1):16-18.

FIRST PARAGRAPH: Chordomas are low- to intermediate-grade malignant tumors that recapitulate the notochord. They are divided into three broad categories: sacrococcygeal (60% of cases), spheno-occipital (25%), and vertebral (15%). About 10% of all tumors are cervical. Vertebral or neck chordomas typically develop in the fifth and sixth decades of life; they have no predilection for either sex. Nerve impingement, progressive pain, and headaches are common. When a chordoma arises within the parapharyngeal space, the mass may be detected clinically. Radiographically, chordomas are usually solitary, lytic lesions; they are associated with matrix calcification in as many as 70% of cases.

PubMed ID: 21229504

Article Size: <1 MB

Thompson LD.

Ear Nose Throat J. 2017 Apr-May;96(4-5):160.

FIRST PARAGRAPH: Elastofibroma is an ill-defined fibroelastic tumor-like condition that affects the neck and upper shoulders. There is a genetic predisposition, with multifocality suggesting an enzymatic defect that results from abnormal elastogenesis. Patients usually present in the 60- to 70-year range, with females affected much more often than males (5:1). Although perhaps due to reporting bias, there is an increased incidence in Japanese patients.

PubMed ID: 28489232

Article Size: <1 MB

Pantanowitz L, Thompson LD.

Ear Nose Throat J. 2006 Oct;85(10):636-7.

FIRST PARAGRAPH: Follicular lymphoma is defined as a neoplasm of follicle center B lymphocytes (centrocytes and centroblasts) that has at least a partially follicular growth pattern. It is a low-grade lymphoma, and its course is indolent. Most patients present during the sixth decade of life; the neoplasm is very rare in patients younger than 20 years of age. The female-to-male ratio is 1.7:1. Lymph node enlargement is the usual presentation; only about 20% of patients have B symptoms (i.e., fever, chills, night sweats, and weight loss). The disease is usually systemic at presentation (stage III or IV). In the head and neck region, follicular lymphoma may involve lymph nodes, Waldeyer’s ring, and/or skin.

PubMed ID: 17124929

Article Size: <1 MB

Chen H, Thompson LD.

Ear Nose Throat J. 2003 Oct;82(10):763.

FIRST PARAGRAPH: Kimura disease is a rare, chronic inflammatory disorder that involves subcutaneous tissues, predominantly those in the head and neck region. Its etiology is unknown, but it is frequently associated with regional lymphade-nopathy and/or salivary gland involvement. Kimura disease has a predilection for males of Asian descent. Clinically, it can simulate a neoplasm, and most patients have peripheral blood eosinophilia and elevated serum immunoglobulin E (IgE) levels.

PubMed ID: 14606173

Article Size: <1 MB

Thompson L.

Ear Nose Throat J. 2006 Jan;85(1):18-9.

FIRST PARAGRAPH: Lymphangiomas are rare congenital tumors, with up to 70% reported in the head and neck. They are separated into three types: cystic (cystic hygroma), capillary, and cavernous. Lymphangiomas account for approximately 25% of all vascular neoplasms in children and adolescents. About 25% of cervical cysts are lymphangiomas.

PubMed ID: 16509236

Article Size: <1 MB

Thompson LD.

Ear Nose Throat J. 2002 Dec;81(12):830.

FIRST PARAGRAPH: Nodular fasciitis is generally regarded as a benign, reactive, tumor-like proliferation of myofibroblasts. It quite commonly occurs in the head and neck region in young patients shortly after they develop an enlarging mass (ulceration is infrequent). In some cases, nodular fasciitis is associated with antecedent trauma.

PubMed ID: 12516376

Article Size: <1 MB

Thompson LD.

Ear Nose Throat J. 2015 Sep;94(9):376-7.

Pleomorphic sarcoma is an uncommon neoplasm in the head and neck now that refinements in diagnostic techniques have more accurately classified tumors that used to be placed in this category.

FIRST PARAGRAPH: ‘Pleomorphic sarcoma’ is the World Health Organization’s preferred term for malignant fibrous histiocytoma. This high-grade pleomorphic malignant mesenchymal neoplasm is a diagnosis of exclusion after other sarcomas and pleomorphic neoplasms have been excluded by histochemistry, immunohistochemistry, electron microscopy, and/or molecular evaluation. Most of these tumors arise de novo, but postradiation tumors are not uncommon. To be considered as a postradiation tumor, the tumor must be located in the radiation field and it must develop at least 3 years after radiation in an area that was free of tumor before radiation.

PubMed ID: 26401667

Article Size: <1 MB

Folk GS, Thompson LD.

Ear Nose Throat J. 2006 Jul;85(7):418-9.

FIRST PARAGRAPH: Synovial sarcoma (SS) is a unique tumor that usually involves the large joints. Approximately 10% of these tumors develop in the neck, oropharynx, hypopharynx, and larynx. Despite the name, these tumors neither originate from synovium nor express synovial differentiation. SS typically presents in young adults (median age: 25 yr). The male-to-female ratio is 3:1. Symptoms are site-specific but tend to be nonspecific. SS typically appears as a solitary, painless mass, occasionally accompanied by dyspnea or hoarseness. The diameter of the lesion ranges from 1 to 12 cm. The cut surface is yellow, firm, whorled, gritty, and friable; cyst formation with hemorrhage or mucoid material is often seen.

PubMed ID: 16909806

Article Size: <1 MB

Thompson L.

Ear Nose Throat J. 2005 Feb;84(2):75.

FIRST PARAGRAPH: Teratomas are neoplasms made up of tissues foreign to the site of occurrence. They contain tissue from all three embryonic germ layers (endoderm, mesoderm, and ectoderm). Other terms–choristoma, hamartoma, heterotopia, epignathus, and dermoid–refer to separate, unique entities that are not covered here.

PubMed ID: 15794539

Article Size: <1 MB

Thompson LDR.

Ear Nose Throat J. 2021 Sep;100(5_suppl):518S-519S. Doi: 10.1177/0145561319890151.

FIRST PARAGRAPH: Desmoid-type fibromatosis is a locally aggressive, nonmetastasizing, well-differentiated, unencapsulated monoclonal myofibroblastic proliferation with a tendency for local invasion and recurrence. The tumor is intermediate between a fibroma and fibrosarcoma. Without a well documented etiology, trauma, surgery, and mutations in the CTNNB1 gene have all been implicated.

PubMed ID: 31760797

Article Size: <1 MB