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The Cause of Lipomatosis - Page 2 - Lipoma Board
Post by Charlupa » Thu Sep 08, 2011 6:55 pm
Citation Nr: 0817385
Decision Date: 05/27/08 Archive Date: 06/09/08
DOCKET NO. 04-19 282	)	DATE
Department of Veterans Affairs Regional Office in Detroit,
Entitlement to service connection for a skin disorder, to
include as due to herbicide exposure.
M. Katz, Associate Counsel
The veteran served on active duty from October 1960 to
(Board) on appeal from a March 2003 rating decision by the
Department of Veterans Affairs (VA) Regional Office in
Detroit, Michigan (RO) and Board remand.
The evidence of record shows that chronic lipomas are related
to his military service.
Chronic lipomas were incurred during active military service.
38 U.S.C.A. §§ 1110, 1131, 5103A, 5107 (West 2002), 38 C.F.R.
§ 3.303 (2007).
Without deciding whether notice and development requirements
have been satisfied in the present case, the Board is not
precluded from adjudicating the issue involving the
appellant's claim for service connection for a skin disorder.
See 38 U.S.C.A. §§ 5100, 5102, 5103, 5103A, 5106, 5107, 5126
(West 2002 & Supp. 2006); 38 C.F.R. §§ 3.102, 3.156(a),
3.159, 3.326 (2007). This is so because the Board is taking
action favorable to the veteran by granting the issue at
hand. As such, this decision poses no risk of prejudice to
the veteran. See, e.g., Bernard v. Brown, 4 Vet. App. 384
(1993); see also Pelegrini v. Principi, 17 Vet. App. 412
(2004); VAOPGCPREC 16-92, 57 Fed. Reg. 49, 747 (1992).
The veteran is seeking service connection for a skin
disorder, diagnosed as chronic lipomas and photodermatitis,
to include as due to herbicide exposure.
Service connection may be granted for disability due to a
disease or injury which was incurred in or aggravated by
active service. 38 U.S.C.A. §§ 1110, 1131; 38 C.F.R.
§ 3.303. In addition, service connection may be granted for
any disease diagnosed after discharge, when all the evidence,
In order to establish service connection for a claimed
disorder, the following must be shown: (1) medical evidence
of a current disability; (2) medical, or in certain
circumstances, lay evidence of in-service incurrence or
aggravation of a disease or injury; and (3) medical evidence
of a nexus between the claimed in-service disease or injury
and the current disability. Hickson v. West, 12 Vet. App.
247, 253 (1999); see also Pond v. West, 12 Vet App. 341, 346
In addition, VA regulations provide that if a veteran was
exposed to an herbicide agent (Agent Orange) during active
service, service connection is presumed for the following
disorders: chloracne or other acneform disease consistent
with chloracne; type 2 diabetes; Hodgkin's disease; Chronic
lymphoma; acute and subacute peripheral neuropathy; porphyria
cutanea tarda; prostate cancer; respiratory cancers (cancer
of the lung, bronchus, larynx, or trachea); and soft-tissue
sarcoma (other than osteosarcoma, chondrosarcoma, Kaposi's
sarcoma, or mesothelioma). 38 C.F.R. § 3.309(e) (2007).
Vietnam during the Vietnam era is not warranted for:
hepatobiliary cancers; nasal and/or nasopharyngeal cancer;
bone and joint cancer; breast cancer; female reproductive
cancers; urinary bladder cancer; renal cancer; testicular
cancer; leukemia, other than chronic lymphocytic leukemia
(CLL); abnormal sperm parameters and infertility; Parkinson's
Disease and Parkinsonism; Amyotrophic Lateral Sclerosis
(ALS); chronic persistent peripheral neuropathy; lipid and
lipoprotein disorders; gastrointestinal and digestive disease
including liver toxicity; immune system disorders;
circulatory disorders; respiratory disorders (other than
certain respiratory cancers); skin cancer; cognitive and
neuropsychiatric effects; gastrointestinal tract tumors;
brain tumors; AL amyloidosis (also referred to as primary
amyloidosis); endometriosis; adverse effects on thyroid
homeostasis; and, any other condition for which VA has not
specifically determined that a presumption of service
connection is warranted. See Notice, 68 Fed. Reg. 27630 -
27641 (May 20, 2003); see also Notice, 67 Fed. Reg. 42600
(June 24, 2002); Notice, 66 Fed. Reg. 2376 (Jan. 11, 2001);
Notice, 64 Fed. Reg. 59232 (November 2, 1999).
A "veteran who, during active military, naval, or air
service, served in the Republic of Vietnam during the period
beginning on January 9, 1962, and ending on May 7, 1975 shall
be presumed to have been exposed during such service to an
herbicide agent . . . unless there is affirmative evidence to
during that service." 38 U.S.C.A. § 1116(f) (West 2002); 38
C.F.R. § 3.307(a)(6)(iii) (2007). Service personnel records
indicated that the veteran served in Vietnam from February
1967 to February 1968. Accordingly, the veteran is presumed
to have been exposed to Agent Orange.
Although the veteran is presumed exposed to Agent Orange, the
Board finds that the medical evidence of record does not
support presumptive service connection for a skin disorder.
The veteran's diagnosed lipomas and photodermatitis are not
among the diseases or disorders eligible for presumptive
service connection. 38 C.F.R. § 3.309. Accordingly,
presumptive service connection for a skin disorder is not
5, 98 Stat. 2724, 2727-29 (1984) does not preclude a veteran
from establishing service connection with proof of actual
direct causation. Combee v. Brown, 34 F.3d 1039 (Fed. Cir.
1994). The provisions of Combee are applicable in cases
involving Agent Orange exposure. McCartt v. West, 12 Vet.
App. 164, 167 (1999).
Historically, the veteran served on active duty from October
1960 to November 1986. In May 2001, the National Personnel
Records Center (NPRC) sent the veteran's service medical
records to the RO; however, the RO never received the
veteran's service medical records. Despite numerous
attempts, neither the RO nor NPRC have been able to locate
the veteran's service medical records. In addition, pursuant
to a Board remand, the RO requested the veteran's clinical
records from the U.S. Army Hospital in Bad Cannstatt,
Germany. However, NPRC was unable to locate any records.
The only service medical record in the veteran's claims file
is his October 1960 enlistment examination, which indicates
that his skin was normal at that time.
VA treatment records from March 1993 to November 2000 reveal
complaints of and treatment for multiple lipomas. A December
1996 treatment record notes that the veteran had multiple
lipomas to his arms, legs, and abdomen, and that he believed
they were caused from Agent Orange exposure in Vietnam. The
VA physician reported that the lipomas were mobile, that
there was no adenopathy noted, and that they were non-tender.
A May 1997 treatment record noted that the veteran was
interested in having his fat cysts removed, as they had
become bothersome. The VA physician stated that the veteran
had multiple lipomas on his arms, back, and abdomen. In
March 1999, the veteran reported that he underwent excision
of lipomas since 1980. The diagnosis was lipomas. In May
1999, the veteran underwent excision of lipomas on his right
and left lower abdomen. In June 1999, the veteran underwent
excision of a lipoma on his left upper arm, and in August
1999, the veteran underwent excision of a lipoma on his right
In April 2001, the veteran underwent a VA skin examination.
He complained of a history of blackheads on his back and neck
which had vanished, a history of increasing photosensitivity,
a rash which frequently caused blistering on the back of his
hands and small lumps on the back of his hands, and numerous
subcutaneous tumors on his skin. The VA examiner noted that
a review of the veteran's VA records revealed that as early
as 1980, the veteran had lipomas cut out of his body.
Specifically, the veteran had three lipomas on his abdomen
removed, one lipoma on his chest removed, and one lipoma on
his back removed. The VA examiner also indicated that the
veteran continues to form new lipomas, and if they enlarge,
they become painful. The examiner noted that especially
debilitating was a large lipoma on the left posterior flank,
which lodges between the veteran's back and the driver's seat
in his truck, which causes pain during his occupation as a
Physical examination revealed long, essentially skin-colored
scars. There were three on the abdomen, on average 2 inches
in diameter, one on the chest, 3 inches in diameter, and one
on the left flank, 5 inches in diameter with a quarter inch
width. There was no adherence to lower skin structures. The
VA examiner also noted subcutaneous tumors on the veteran's
body. There was a 1 centimeter and 3.5 centimeters in
diameter lipoma located on the left flank, a 3 centimeter by
2 centimeter lipoma on the left interior flank, a 2
centimeter lipoma on the right lower quadrant, a 2 centimeter
lipoma on the left arm, a 2 centimeter lipoma and a 1
centimeter lipoma each in front of each elbow of the left
posterior flank, and a 2 centimeter lipoma on the right
chest. The diagnoses were multiple lipomas, scars from
lipoma surgery, and photodermatitis with milia. The VA
examiner concluded that the "onset of lipoma was certainly
during in service tenure." The VA examiner noted that the
veteran had multiple lipoma scars from lipoma surgery and
continued to form lipomas, some of which were tender. The VA
examiner also noted that he did not have the expertise to
determine whether the lipomas were related to Agent Orange
exposure. The examination also revealed photodermatitis with
milia on the dorsal hands with some scarring. Laboratory
data was ordered, which showed urine porphyrins to be normal.
Accordingly, the examiner ruled out an Agent Orange
In May 2004, the veteran submitted three statements from
fellow veterans who served with him at the time that he had
his lipomas removed inservice. A statement from J.K. reveals
that he remembered the veteran having lumps removed in 1984,
and he recalled the veteran saying that they were "some kind
of fat lumps." R.S. reported that he was a witness to the
surgery that the veteran underwent to remove lumps located on
his back and stomach. S.C. stated that the veteran had fat
lumps removed in 1984 or 1985, and that he had them removed
at a military hospital in Germany.
The Board finds that service connection for a skin disorder
on a direct basis is supported by the evidence of record.
There is a diagnosis of a current skin disorder. Degmetich
v. Brown, 104 F.3d 1328, 1333 (1997) (holding that the
existence of a current disability is the cornerstone of a
claim for VA disability compensation). Although the
veteran's service medical records have been lost, the
veteran's statements and the statements provided by the
veteran's fellow veterans indicate that the veteran had
"lumps" inservice and underwent excision for "lumps"
inservice. 38 C.F.R. §§ 3.307, 3.309; Hickson, 12 Vet. App.
at 253 (holding that service connection requires medical, or
in certain circumstances, lay evidence of in-service
incurrence or aggravation of a disease or injury). In
addition, the evidence of record supports a relationship
between the veteran's current lipomas and service. Hickson,
12 Vet. App. at 253 (holding that service connection requires
medical evidence of a nexus between the claimed in-service
disease or injury and the current disability); see also
Grottveit v. Brown, 5 Vet. App. 91, 93 (1993) (holding that
the question of whether the veteran's disorder is
etiologically related to his service requires competent
medical evidence). After review of the veteran's claims
file, discussion with the veteran, and a physical
examination, the VA examiner concluded that the "onset of
lipomas was certainly in service tenure" and that the
veteran has multiple scars from lipoma surgery and continues
to form lipomas. Accordingly, the Board finds that the
evidence is at least in equipoise with regard to this claim,
and therefore, with application of the benefit of the doubt
doctrine, service connection for a skin disorder is
warranted. Gilbert v. Derwinski, 1 Vet. App. 49, 53-56
Service connection for a skin disorder is granted.
Post by matt » Fri Sep 09, 2011 9:26 am
I just want to mention that one of the main ingredient in the Agent Orange is Dioxin which is a known carcinogen. It just so happens that some fungi love Dioxin. There are several threads in the forum pointing to odd connections towards fungi, like What Causes Lipomas and Are Lipoma perhaps caused by Candida Infection.
It might be that there are different paths which lead to lipomas, like genetics, fungi, bacteria, viruses and toxins. Or are they all the same but different sides of the whole picture? It could be that some fungal infections are capable of damaging the DNA (they are genotoxic) and thus lipomas are seen as hereditary. Although in this case the original cause was the fungal based dislocation of the gene.
For some reason fungi seem to love everything we consider carcinogenic. Fungi eat or "detoxify" and flourish in e.g. crude oil, Dioxin, asbestos, cigarrettes and for some reason some fungi enjoy of being radiated. Just how twisted is that?
Carcinogenic is also Alphatoxin (sometimes present in grains) which is a naturally occuring toxin (mycotoxin) produced by by many species of Aspergillus fungi.
Post by Charlupa » Fri Sep 09, 2011 11:11 pm
A: Dioxin binds very strongly to intracellular receptors in the nuclei of animal and human cells throughout the body. So dioxin can easily get into the nucleus, where the cell's DNA is located, and wreak havoc. If it damages the DNA, that could cause cancer or birth defects. It could also alter the DNA's instructions to make normal enzymes, hormones, and other proteins, which could lead to any of a number of diseases.
A: Yes. Dioxin is a known carcinogen. TCDD is the most potent animal carcinogen ever tested. It causes tumors in both genders of every species and every strain of animal that's been tested. And the animals get different types of tumors, so it doesn't just initiate tumors, it also promotes the growth of tumors caused by other chemical initiators.
Post by Charlupa » Fri Sep 09, 2011 11:38 pm
A: Most of the studies of exposed populations indicate that dioxin causes an increased risk of all cancers. Some studies suggest that it promotes lung cancer and soft-tissue sarcomas, which are cancers of the fat and muscle. Most studies don't focus on any one type of cancer because there are so few individual cancers in small studies of exposed populations.
Post by HMG » Thu Sep 29, 2011 8:43 am
Hi Laura. Nice post. I agree with you for the most part. My training is medical and molecular genetics so I appreciate your post but I just wanted to correct one thing.
1. Lipoma formation CAN be influenced by environment and diet and by no means have studies ruled this out yet. Why do you think sometimes people suddenly develop 5 or 10 new lipomas in a matter of months and then go for years with no new lipoma growth?
This is because lipogenesis and lipoma growth is linked to diet. Furthermore, all genes have regulatory regions with promoter and enhancer elements which are bound by a variety of transcription factors and molecules. Many of these regulatory proteins are turned on themselves or co-factored with elements and ions brought into the body through diet.
Post by matt » Thu Sep 29, 2011 9:01 am
since you have a medical background, do you think that bacteria, fungi, virus or yeast could be a factor?
Post by Ron » Fri Sep 30, 2011 8:44 am
Hi HMG and Others,
Thanks for so much for posts. HMG, would greatly appreciate if you could elaborate on your point about diet and environment. Today, as indiv in early 20s, was the first time I paid serious attention and noticed dozens of small, granular lipomas in my left and right forearms. However, 90% are not yet visible to naked eye but can be felt by touch. I suspect the growth is related to consuming much whey protein and working out over last 1 yr, and I also confirmed my father had several lipomas in childhood.
My main hope is to stop the growth of these 20+ lipomas and that no new ones emerge. Do you have recommendations what foods to avoid such as red meat, foods high zinc / aspartame; and would you recommend home remedies such as beta glucan?
Glad to know there are others out there struggling with same thing, and I'd be grateful for any advice.
Post by Laura » Fri Sep 30, 2011 2:51 pm
HMG wrote: Hi Laura. Nice post. I agree with you for the most part. My training is medical and molecular genetics so I appreciate your post but I just wanted to correct one thing.
HMG - you said you agree with me. I haven't posted my opinion on anything. What I posted here was actually a repost of another lipoma sufferer's, from years ago.
What you'll see here is that NONE of us here know what causes lipomas, just like the world's medical profession.
What we are doing is putting out information and ideas, hoping to find a common thread.
If YOU have any helpful information, that would be appreciated.
Please know that this is NOT a debate. This is NOT a typical internet discussion board.
This IS an effort to find causes, treatments, cures and bring attention to the problem.
NONE of us know what causes lipomas. NONE of us have a confirmed cure.
It IS important to have as much information as possible, since there is no SERIOUS effort by the medical profession to
Matt, who started this board has done more to seek help for us than maybe anyone since Dercum.
If Darryl's hypothesis is right, and if at least some of us are helped, then that is in part owed to Matt, and in other part owed to Darryl.
There are common threads -- including genetics, and no one knows for sure how much environment or diet etc play a part.
NO one here is claiming to know the answer, especially me.
Again, this is not a debate. Its about information. I have no hypothesis. If I did, I would act upon it.
We are not here to defend positions or criticize others. We are here for information and hopefully a cure or better treatment.
Post by matt » Tue Oct 04, 2011 3:27 pm
I posted my thoughts about the genetic connection of lipomas in the other thread.
Post by Micki » Wed Oct 05, 2011 2:33 am
My husband has over 400, close to 500, lipomas all over his body from his calves to the top of his neck and town both arms. Some are very large and some are on his joints or in other locations that cause him pain. He is also growing weaker in his arms as the lipomas mass together and get larger. He is currently rated 30% by the VA with it related to his Gulf War service (on a ship in the Gulf), but that was determined 3 years ago when he had less than 100 of the lipomas. It is advancing rapidly, and the VA either refers him to specialists or take out 1 lipoma at a time after he takes off work and drives 3 hours to the VA hospital. He is no longer able to do many of the activities he previously did such as coach football and baseball, and play golf, because of the weakness and pain in his arms. He is also in pain when anyone touches up against a lump or leans on him. He is miserable, bot to mention his embarrassment from having these "lumps" all over his body. Strangers ask about the lumps and the children where he works question him constantly about the big bumps. He recently went in for a reevaluation for increased rating (hoping it would get more medical attention for him to have more removed) and the doctor told him he was simply "too fat" and needed to go on a diet. (My husband is 220 and 5'9", so not obese, and he used to be very athletic and muscular, but that is all going fast). The doctor did not even examine the lipomas (which are extremely visible all over his body) and his claim was therefore denied.
Post by sjohn » Wed Oct 05, 2011 3:14 pm
Sounds like insurance issues to me...
Post by matt » Wed Oct 19, 2011 10:23 am
Posted some more ideas to the similar thread: What Causes Lipomas?
Post by Guest » Wed Nov 23, 2011 8:31 am
Sorry to hear your husband is suffering and unable to get medical attention. The most of the work done is the prep for surgery, they should operate more than just 1 lipoma at a time. That is very inefficient way to deal with this. When you mention the lipoma is pressing against the nerves causing pain, they still won't treat it??
I educate people about lipoma when they ask about the lumps.
Post by matt » Fri Dec 30, 2011 11:34 am
In the after math of my discussion with Dr. Cantwell about the possible microbial origin of fat tumors I am now quite convinced the chromosomal translocations are happening because of microbial interference.
Kaposi's sarcoma is a fairly benign tumor disease which occurred rarely before AIDS. Dr Cantwell published a study before AIDS was known in 1981 which discusses about microbial findings in Kaposi's sarcoma samples.
Later on, in 1994, it was discovered that Human herpesvirus was responsible for Kaposi's sarcoma.
It has also been discovered that there are nonrandom chromosomal alterations (deletion and translocations) in Kaposi's sarcoma's neoplastic cells. The nonrandom translocations and deletions happen in the short arm of chromosome 3 at region 3p14.
So the translocations of the chromosomes must happen because of the herpesvirus (or pleomorphic bacteria) since it originally causes Kaposi's sarcoma.
So the genetic origin of lipomas in my opinion is somewhat false. The genes do play a role but only after microbe have become involved.
Post by guest » Wed Feb 08, 2012 8:48 am
Hi HMG. Where are you buddy, we need you in this forum. If you could register and come back, it would be great.
Post by matt » Fri Feb 17, 2012 10:45 am
The original quote which started this thread has many flaws as has been seen. It simplyfies way too much and states facts that are not true like
We know now that translocations happen all the time in our cells and each cell can even have their own kind of version of the DNA:
An example of extreme simplyfying is:
At some point, in some cells, the translocated genes can no longer do their job while being located on the wrong chromosome. The "on-off switch" in the cell division machinery in this cell gets stuck on the "on" setting. The cells continue to divide. All the daughter cells of this cell also continue to divide. This creates a mass of tissue, in which all cells are continuing to divide when they shouldn't be dividing. This is a lipoma tumor.
The most important part of the whole post is dodged by an "on-off switch" starting to fail at some point. What causes it to fail? The poster has the impression that the translocation just sits and waits for the perfect time to stop wroking properly.
I have a different view. While this might be true in some cases I'm more prone to believe the translocation happens because of something triggers it and causes the cells to divide from then on.
The DNA are not 100 % similar in each of our body's cells.
So if a translocation is found from lipomatous tissue, it likely doesn't appear in non-lipomatous tissue. Furthermore, the translocation found from one lipoma cell may not be the same found in another lipoma cell of the same person.
Well, not really. Why? Because it doesn't matter what the DNA looks like. What matters is what causes the DNA to alter.
Post by caribou » Mon Feb 27, 2012 12:00 pm
matt wrote: The writer tells us
How does the writer know this? [...] So it is also known that viruses are capable to induce translocations or even mix their own DNA or RNA. So I'm quite puzzled with the quote.
Sorry, I don't have time to read the rest of this thread now, so this might have come up already. However, I'd like to say that translocation mutations do occur after a person has been born, it can happen in every cell at any point due to environmental factors. It's just that the mutation is then localized to that specific cell and its daughter cells only, it doesn't affect the rest of the body (except in the case of a malignant tumour). That type of mutation is not inheritable.
When a translocation mutation occurs in the cells of the germ line (cell lines that produce egg and sperm cells), the mutation will be present in all the cells of the offspring that develop from those gametes, and that's when lipomatosis occurs. The mutation is present in all the cells with 46 chromosomes in a person (autosomal cells), and some of the gametes with 23 chromosomes (depending on how meiosis goes, all in all in around 50% of viable egg and sperm cells anyway). Then the condition is heritable. The author you quoted was talking about a case of a translocation mutation that has been inherited, that has happened in the germ line, is present in all autosomal cells of a person and will be passed on to about 50% of offspring. It's easy to get confused as the author didn't explain this bit, but that's what he/she meant when saying that a translocation mutation can't occur after birth - yes it can, but that probably wouldn't have any symptoms, it could result in one small lipoma at best. The same mutation happening in all the cells of a person that would manifest itself as FML cannot happen after birth, or at least that would be incredibly, incredibly, incredibly unlikely.
Anyway, that original quote was interesting as I hadn't realized the translocation mutation could result in miscarriages and some more difficulty conceiving. That hadn't occurred to me at all, but of course it makes sense. As far as I know my ancestors haven't had any trouble producing offspring though, but it's good to keep in mind.
Edit: now in my understanding (which is probably limited as I haven't looked into this too much), all the cells have the translocation mutation, but the genes still work just fine until around the age of 20 or so years when first lipomas occur. And even then not all fat tissue develops into lipomas, but they appear randomly. Now the question of course is, what happens when the genes stop working and lipomas develop, and could that prevented somehow? I don't know, but it's a fascinating topic and it's great to see people like Matt investigating the subject.
Post by matt » Mon Feb 27, 2012 2:52 pm
Hi there fellow citizen and welcome to the board!
I thank you for your feedback! As you have probably already noticed this board likes to share an alternative view to the medical truths. Some of my views (mostly backed up by a reference) are far from the official medical views.
So I wish you could preserve your broad-mindness since I'm more than happy to share facts and views with a medical expert. I know you were just trying to clarify the content of the quote, so please do not consider my reply as an attack towards you. I just want to point out some things because the subject is not as straightforward as you might expect from the original quote.
I would like to correct you on one thing though:
..and that's when lipomatosis occurs.
I would state ...and that's when lipomatosis is more likely to occur.
And I don't agree - with my current knowlidge - with your statement:
...it could result in one small lipoma at best.
True, we currently think that lipomas do not metastasize. I'm not so convinced any more. I actually suggest nowadays that lipomas can even be infected from person to person but I have no strong evidence for that currently.
And although I do believe the translocation you mentioned can be inherited I'm quite sure it is not the only way how one can get lipomatosis. And I know not everybody with the translocation get lipomas. And the truth is there are multiple different translocations connected with lipomas. So it's not just one certain translocation.
Because of the fact that not everyone with the translocation get lipomas and not everyone who have lipomas have the translocation (read further) I do think that the whole translocation thing is just directional.
I know it's the truth we are told but after researching for some years I now think the translocation is just a part of the whole story. I must admit that the genetics is not easy and I do not claim to understand it very well.
But I'm also quite convinced this whole translocation thing hasn't been thoroughly investigated yet.
Depending on the source 25-60 % of lipomas have a translocation in chromosome 12 (region 12q13-15), most often the translocation happens with the chromosome 3. There are two copies of chromosome 12, one copy inherited from each parent. This region can recombine with a variety of other chromosomal segments. The segments can be from chromosomes 1, 2, 5, 10, 12, 13 and 21; all of which have been associated with lipomas.
But not all lipomas manifest the translocation in the chromosome 12. Some lipoma related translocations happen in chromosomes 6 and 13. About 15-20% of lipomas have no translocation in any of these chromosomes.
Angiolipomas seem to have a normal appearance as shown by chromosome banding meaning that there are no translocations at all.
And you have to remember there many other things which may induce lipomatosis, like alcoholism, some AIDS drugs or a fungus.
For a long time I have eagered to know whether the translocation in the HMGI (high mobility group) subfamily (or any other causative translocation) has been proven to manifest itself in every living cell of each host?
There's an interesting study about the Familial Multiple Lipomatosis. 'Familial' means it runs in the family more than would be expected by chance. The researchers expected to find abnormal chromosomes when they took samples from the lipomas and the blood. Well, they didn't. There were no translocations. They even admitted that this was the very first time anyone had done such an analysis. The year was 2007. I wonder how the lipomas were inherited then?
The studies do state over and over again that these translocations are the ones found in the benign neoplasms but they don't answer whether the translocations are present in every cell of the host and whether the translocations are always inherited (what they are not).
Of course I could change my mind, if I was presented some studies which would show that the DNA from the father, mother and the child is taken both from the tumor and elsewhere. And if these samples would strongly support that it's all about inheritance then I would shut my mouth about the subject forever
Maybe you can enlighten me on this? Do they take the DNA sample always from the blood or from the tumor or both? What is your opinion about it all?
http://atlasgeneticsoncology.org/Tumors/lipoma5050.html
http://www.humangenetik-bremen.de/Lipoma.html12q13-15
http://www.ncbi.nlm.nih.gov/pubmed/17674589
Post by caribou » Mon Feb 27, 2012 4:05 pm
Ehm, right. I was merely correcting what I thought to be a simple misunderstanding, but clearly you are much more well-read on this subject than I am.
And wow, it does seem very complicated.
If there are no translocations or any discernible genetic mutations in those lipoma patients, I wonder why it still seems to run in families and specifically, not skip generations (or are there cases where it has skipped generations?). Because that would point to an autosomal dominant heritance.
Unfortunately I'm too busy with school at the moment to research this much right now (wasted way too much time today already), but it is very interesting if some people with the translocation don't get lipomas whereas others do! Did you deduce this based on the osteoarthritis study you linked to? Could you dumb it down for me, as I didn't quite understand it? They found the same mutation in the synovial joints of patients with ostheoarthritis, so these patients should have lipomatosis as well, but they don't?
Maybe when I'm more experienced and have more time, I could look into this. But alas, I'm only in my first year of studies and have very little medical knowledge at the moment. So I can't answer your question about the DNA samples. They should state what they did in the studies, if you can get the full version, shouldn't they? Obviously they should take DNA samples from both the tumour and then elsewhere in the body (I guess they usually use epithelial cells from the inside of the cheek, but maybe blood as well). I don't know if they've done so or not.
What I've learnt in school, is that technically if the mutation is inherited, you would have it in every single autosomal cell (along with a normal copy of the gene from the other parent). Obviously it could well be that this is proven wrong some day, I'm not denying that possibility and I do think medicine suffers from scientific dogmas, some of which may not true (e.g. current dietary and cholesterol advice). Anyway, that's what I've been taught. There are also cases where only certain cell lines have the mutation (mosaicism), which means that the mutation has occurred in one cell during fetal development and is only present in the daughter cells of the originally mutated cell (e.g. mosaic Down syndrome). Then inheritance depends on whether the germ cell line is affected by the mutation or not. Apparently a person can have a mutation only in the germ cell line as well (a form of mosaicism), in which case he/she is seemingly healthy but e.g. all his/her children have a specific developmental disorder.
In any way, best of luck with your research! Maybe some day we can cure lipomas with those collagenase injections or gene therapy or something else. I certainly hope so!
Post by matt » Tue Feb 28, 2012 5:47 pm
Could you dumb it down for me, as I didn't quite understand it? They found the same mutation in the synovial joints of patients with ostheoarthritis, so these patients should have lipomatosis as well, but they don't?
Yes, something like that. At least they state that it is evident that expression of HMGIC (which is the primary molecular target for tumor inducing aberrations in the chromosome bands 12q13-15) cannot simply be considered a sign of neoplasia (tumor) or an effect of proliferation (tissue growth).
So the patient had the exact same mutation in the joint tissue and it didn't have any tumors in it.
So it's clear it's not just about the mutation or translocation in the DNA. But it could be that lipomas will occur if any of the mutations mentioned before happen in a fat cell.
Now don't get me wrong, I am not dening that it's impossible to inherit lipomatosis. I'm saying it's one way to get it.
My point is, what if there really was a way to cure even one tiny lipoma without any invasive method? Would that mean something happened to the mutated DNA? Or did all the lipoma cells just die? We have people here who say it's possible.
Now if this ever happened would you really care how you got the disease?
Shoot, we even have a scientific medical report which states that lipomatosis was cured without surgery! I wonder what happened to the patients mutations?